FlyBase Allele Report: Dmel\Vap33[P58S.cRa.UAS]

General Information

Symbol

Dmel\Vap33^P58S.cRa.UAS

Species

D. melanogaster

Name

FlyBase ID

FBal0243927

Feature type

allele

Associated gene

Dmel\Vap33

Associated Insertion(s)

Carried in Construct

P{UAS-Vap-33-1.P58S.R}

Also Known As

UAS-VAP^P58S, UAS-VAP(P58S)

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Ratnaparkhi et al., 2008)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Ratnaparkhi et al., 2008)

Mutagen

in vitro construct

(Ratnaparkhi et al., 2008)

Progenitor genotype

Carried in construct

P{UAS-Vap-33-1.P58S.R}

Cytology

Description

UAS regulatory sequences drive expression of a mutant form of Vap33 which contains the amino acid replacement P58S.

(Ratnaparkhi et al., 2008)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Vap33

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:3,951,522..3,951,522 [+]

Nucleotide change:

C3951522T

Amino acid change:

P58S | Vap33-PA; P58S | Vap33-PB; P58S | Vap33-PC; P58S | Vap33-PE

Reported amino acid change:

P58S

Comment:

Analogous mutation in human VAPB implicated in amyotrophic lateral sclerosis 8 and spinal muscular atrophy, late onset, Finkel type; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator.

(Ratnaparkhi et al., 2008)

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Expression Data

Reporter Expression

Additional Information

Statement

Reference

Marker for

Reflects expression of

Reporter construct used in assay

Human Disease Associations

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 1 )

Disease

Evidence

References

model of amyotrophic lateral sclerosis

CEA

(Ratnaparkhi et al., 2008)

model of amyotrophic lateral sclerosis type 8

CEA

(Chaplot et al., 2019)

CEA with Vap33^Δ166

(Tendulkar et al., 2022)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of amyotrophic lateral sclerosis type 8

is ameliorated by Cat^HMS00990

(Chaplot et al., 2019)

is exacerbated by Cat^UAS.cAa

(Chaplot et al., 2019)

is ameliorated by Sod1^GL01016

(Chaplot et al., 2019)

is ameliorated by Sod1^JF03321

(Chaplot et al., 2019)

is ameliorated by Sod2^JF01989

(Chaplot et al., 2019)

is ameliorated by mTor^GL00156

(Chaplot et al., 2019)

is ameliorated by Vap33^JF02621

(Chaplot et al., 2019)

model of amyotrophic lateral sclerosis

is ameliorated by ND-20^NIG.9172R

(Deivasigamani et al., 2014)

is ameliorated by mTor^HMS00904

(Deivasigamani et al., 2014)

is ameliorated by mTor^TED.UAS

(Deivasigamani et al., 2014)

is ameliorated by Tsc1^UAS.cTa

(Deivasigamani et al., 2014)

is ameliorated by Nup75^NIG.5733R

(Deivasigamani et al., 2014)

is ameliorated by ppk30^NIG.18110R

(Deivasigamani et al., 2014)

is ameliorated by Atg1^UAS.cCa

(Deivasigamani et al., 2014)

is ameliorated by NaPi-T^NIG.10207R

(Deivasigamani et al., 2014)

is ameliorated by Ada2b^NIG.9638R

(Deivasigamani et al., 2014)

is ameliorated by ssh^NIG.6238R

(Deivasigamani et al., 2014)

is ameliorated by CG6048^NIG.6048R

(Deivasigamani et al., 2014)

is ameliorated by S6k^KQ.UAS

(Deivasigamani et al., 2014)

is ameliorated by gig^UAS.cTa

(Deivasigamani et al., 2014)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Ratnaparkhi et al., 2008)

VAPB:p.Pro56Ser

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

External database links

ClinVar: VAPB_4806

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

NMJ bouton, with Scer\GAL4^elav.PLu

(Ratnaparkhi et al., 2008)

NMJ bouton, with Scer\GAL4^RapGAP1-OK6

(Ratnaparkhi et al., 2008)

terminal bouton, with Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Detailed Description

Statement

Reference

Expression of Vap-33A^{P58S.cRa.Scer\UAS} under the control of Scer\GAL4^elav-C155 leads to enlarged boutons, without any change in bouton number. This phenotype can be rescued by feeding the larvae rapamycin.

(Deivasigamani et al., 2014)

Expression of Vap-33-1^{P58S.cRa.Scer\UAS} under the control of Scer\GAL4^how-24B or Scer\GAL4^tub does not cause lethality at 25[o]C, but does result in lethality at 30[o]C.

Expression of Vap-33-1^{P58S.cRa.Scer\UAS} under the control of either Scer\GAL4^elav.PLu or Scer\GAL4^OK6 results in an increase in bouton diameter at the neuromuscular junction in third instar larvae. Animals expressing Vap-33-1^{P58S.cRa.Scer\UAS} under the control of Scer\GAL4^elav.PLu show a significant increase in "floating T-bars" (electron dense structures attached to neurotransmitter vesicles floating within the cytoplasmic space) compared to controls.

Expression of Vap-33-1^{P58S.cRa.Scer\UAS} under the control of Scer\GAL4^sca.PU has no effect on the development of the adult thoracic bristles. Co-expression of Vap-33-1^{P58S.cRa.Scer\UAS} suppresses the thoracic bristle defects seen in animals expressing Vap-33-1^Scer\UAS.cRa under the control of Scer\GAL4^sca.PU.

(Ratnaparkhi et al., 2008)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, suppressible by Ada2b^NIG.9638R, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, suppressible by Scer\GAL4^elav-C155/ppk30^NIG.18110R

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, suppressible by CG6048^NIG.6048R, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, suppressible by NaPi-T^NIG.10207R, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, suppressible by Nup75^NIG.5733R, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, suppressible by ND-20^NIG.9172R, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, suppressible by Scer\GAL4^elav-C155/ssh^NIG.6238R

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, suppressible by Scer\GAL4^elav-C155/TBPH^NIG.10327R

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, suppressible by Scer\GAL4^elav-C155/mTor^HMS00904

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, suppressible by CG7564^NIG.7564R, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, suppressible by Scer\GAL4^elav-C155/mTor^TED.UAS

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, suppressible by S6k^KQ.UAS, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, suppressible by Atg1^UAS.cCa, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, suppressible by gig^UAS.cTa/Scer\GAL4^elav-C155/Tsc1^UAS.cTa

(Deivasigamani et al., 2014)

NOT suppressed by

Statement

Reference

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, non-suppressible by Droj2^NIG.8863R, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, non-suppressible by Prx5^NIG.7217R, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, non-suppressible by Karyβ3^NIG.1059R, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, non-suppressible by Scer\GAL4^elav-C155/snama^NIG.3231R

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, non-suppressible by Ars2^NIG.7843R, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, non-suppressible by S6k^STDETE.UAS, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, non-suppressible by Scer\GAL4^elav-C155/Thor^LL.UAS

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, non-suppressible by Rheb^UAS.cPa, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, non-suppressible by Rheb^HMS00923, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has abnormal neuroanatomy phenotype, non-suppressible by Scer\GAL4^elav-C155/Tsc1^JF01262

(Deivasigamani et al., 2014)

Phenotype Manifest In

Suppressed by

Statement

Reference

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has terminal bouton phenotype, suppressible by Ada2b^NIG.9638R, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has terminal bouton phenotype, suppressible by Scer\GAL4^elav-C155/ppk30^NIG.18110R

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has terminal bouton phenotype, suppressible by CG6048^NIG.6048R, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has terminal bouton phenotype, suppressible by NaPi-T^NIG.10207R, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has terminal bouton phenotype, suppressible by Nup75^NIG.5733R, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has terminal bouton phenotype, suppressible by ND-20^NIG.9172R, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has terminal bouton phenotype, suppressible by Scer\GAL4^elav-C155/ssh^NIG.6238R

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has terminal bouton phenotype, suppressible by Scer\GAL4^elav-C155/TBPH^NIG.10327R

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has terminal bouton phenotype, suppressible by Scer\GAL4^elav-C155/mTor^HMS00904

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has terminal bouton phenotype, suppressible by Scer\GAL4^elav-C155/mTor^TED.UAS

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has terminal bouton phenotype, suppressible by S6k^KQ.UAS, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has terminal bouton phenotype, suppressible by Atg1^UAS.cCa, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has terminal bouton phenotype, suppressible by gig^UAS.cTa/Scer\GAL4^elav-C155/Tsc1^UAS.cTa

(Deivasigamani et al., 2014)

NOT suppressed by

Statement

Reference

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has terminal bouton phenotype, non-suppressible by Droj2^NIG.8863R, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has terminal bouton phenotype, non-suppressible by Prx5^NIG.7217R, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has terminal bouton phenotype, non-suppressible by Karyβ3^NIG.1059R, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has terminal bouton phenotype, non-suppressible by Scer\GAL4^elav-C155/snama^NIG.3231R

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has terminal bouton phenotype, non-suppressible by Ars2^NIG.7843R, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has terminal bouton phenotype, non-suppressible by S6k^STDETE.UAS, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has terminal bouton phenotype, non-suppressible by Scer\GAL4^elav-C155/Thor^LL.UAS

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has terminal bouton phenotype, non-suppressible by Rheb^UAS.cPa, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has terminal bouton phenotype, non-suppressible by Rheb^HMS00923, Scer\GAL4^elav-C155

(Deivasigamani et al., 2014)

Scer\GAL4^elav-C155, Vap33^P58S.cRa.UAS has terminal bouton phenotype, non-suppressible by Scer\GAL4^elav-C155/Tsc1^JF01262

(Deivasigamani et al., 2014)

Additional Comments

Genetic Interactions

Statement

Reference

Expression of Ada2b^NIG.9638R suppresses the enlarged bouton phenotype seen when Vap-33A^{P58S.cRa.Scer\UAS} is expressed under the control of Scer\GAL4^elav-C155.

Expression of ppk30^NIG.18110R suppresses the enlarged bouton phenotype seen when Vap-33A^{P58S.cRa.Scer\UAS} is expressed under the control of Scer\GAL4^elav-C155.

Expression of CG6048^NIG.6048R suppresses the enlarged bouton phenotype seen when Vap-33A^{P58S.cRa.Scer\UAS} is expressed under the control of Scer\GAL4^elav-C155.

Expression of ND-20^NIG.9172R suppresses the enlarged bouton phenotype seen when Vap-33A^{P58S.cRa.Scer\UAS} is expressed under the control of Scer\GAL4^elav-C155.

Expression of NaPi-T^NIG.10207R suppresses the enlarged bouton phenotype seen when Vap-33A^{P58S.cRa.Scer\UAS} is expressed under the control of Scer\GAL4^elav-C155.

Expression of Nup75^NIG.5733R suppresses the enlarged bouton phenotype seen when Vap-33A^{P58S.cRa.Scer\UAS} is expressed under the control of Scer\GAL4^elav-C155.

Expression of ssh^NIG.6238R suppresses the enlarged bouton phenotype seen when Vap-33A^{P58S.cRa.Scer\UAS} is expressed under the control of Scer\GAL4^elav-C155.

Expression of TBPH^NIG.10327R suppresses the enlarged bouton phenotype seen when Vap-33A^{P58S.cRa.Scer\UAS} is expressed under the control of Scer\GAL4^elav-C155.

Expression of Tor^HMS00904 suppresses the enlarged bouton phenotype seen when Vap-33A^{P58S.cRa.Scer\UAS} is expressed under the control of Scer\GAL4^elav-C155.

Expression of Droj2^NIG.8863R does not suppress the enlarged bouton phenotype seen when Vap-33A^{P58S.cRa.Scer\UAS} is expressed under the control of Scer\GAL4^elav-C155.

Expression of Prx5^NIG.7217R does not suppress the enlarged bouton phenotype seen when Vap-33A^{P58S.cRa.Scer\UAS} is expressed under the control of Scer\GAL4^elav-C155.

Expression of Karyβ3^NIG.1059R does not suppress the enlarged bouton phenotype seen when Vap-33A^{P58S.cRa.Scer\UAS} is expressed under the control of Scer\GAL4^elav-C155.

Expression of snama^NIG.3231R does not suppress the enlarged bouton phenotype seen when Vap-33A^{P58S.cRa.Scer\UAS} is expressed under the control of Scer\GAL4^elav-C155.

Expression of Ars2^NIG.7843R does not suppress the enlarged bouton phenotype seen when Vap-33A^{P58S.cRa.Scer\UAS} is expressed under the control of Scer\GAL4^elav-C155.

Expression of Tor^TED.Scer\UAS suppresses the enlarged bouton phenotype seen when Vap-33A^{P58S.cRa.Scer\UAS} is expressed under the control of Scer\GAL4^elav-C155.

Expression of S6k^{STDETE.Scer\UAS} does not suppress the enlarged bouton phenotype seen when Vap-33A^{P58S.cRa.Scer\UAS} is expressed under the control of Scer\GAL4^elav-C155.

Expression of S6k^KQ.Scer\UAS suppresses the enlarged bouton phenotype seen when Vap-33A^{P58S.cRa.Scer\UAS} is expressed under the control of Scer\GAL4^elav-C155.

Expression of Thor^LL.Scer\UAS does not suppress the enlarged bouton phenotype seen when Vap-33A^{P58S.cRa.Scer\UAS} is expressed under the control of Scer\GAL4^elav-C155.

Expression of Atg1^Scer\UAS.cCa suppresses the enlarged bouton phenotype seen when Vap-33A^{P58S.cRa.Scer\UAS} is expressed under the control of Scer\GAL4^elav-C155.

Expression of Rheb^Scer\UAS.cPa does not suppress the enlarged bouton phenotype seen when Vap-33A^{P58S.cRa.Scer\UAS} is expressed under the control of Scer\GAL4^elav-C155.

Expression of Rheb^HMS00923 does not suppress the enlarged bouton phenotype seen when Vap-33A^{P58S.cRa.Scer\UAS} is expressed under the control of Scer\GAL4^elav-C155.

Co-expression of Tsc1^Scer\UAS.cTa and gig^Scer\UAS.cTa suppresses the enlarged bouton phenotype seen when Vap-33A^{P58S.cRa.Scer\UAS} is expressed under the control of Scer\GAL4^elav-C155.

Expression of Tsc1^JF01262 does not suppress the enlarged bouton phenotype seen when Vap-33A^{P58S.cRa.Scer\UAS} is expressed under the control of Scer\GAL4^elav-C155.

(Deivasigamani et al., 2014)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Partially rescues

Vap33^P58S.cRa.UAS/Scer\GAL4^elav.PLu partially rescues Vap33^Δ166

(Ratnaparkhi et al., 2008)

Vap33^P58S.cRa.UAS/Scer\GAL4^elav.PLu partially rescues Vap33^Δ20

(Ratnaparkhi et al., 2008)

Comments

Expression of Vap-33-1^{P58S.cRa.Scer\UAS} under the control of Scer\GAL4^elav.PLu does not rescue the enlarged bouton phenotype seen at the neuromuscular junction of Vap-33-1^Δ166 third instar larvae.

The lethality of hemizygous Vap-33-1^Δ166 and Vap-33-1^Δ20 males is partially rescued by expression of Vap-33-1^{P58S.cRa.Scer\UAS} under the control of Scer\GAL4^elav.PLu.

(Ratnaparkhi et al., 2008)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (4)

Reported As

Symbol Synonym

Vap-33-1^{P58S.cRa.Scer\UAS}

Vap-33A^{P58S.cRa.Scer\UAS}

Vap33^{P58S.cRa.Scer\UAS}

Vap33^P58S.cRa.UAS

Name Synonyms

Secondary FlyBase IDs

References (7)

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