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

General Information

Symbol

Dmel\Vap33^{P58S.UAS.Tag:FLAG}

Species

D. melanogaster

Name

FlyBase ID

FBal0290514

Feature type

allele

Associated gene

Dmel\Vap33

Associated Insertion(s)

Carried in Construct

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

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Forrest et al., 2013)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Forrest et al., 2013)

Mutagen

in vitro construct

(Forrest et al., 2013)

Progenitor genotype

Carried in construct

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

Cytology

Description

UAS regulatory sequences drive expression of a mutant form of Vap33 in which the proline at amino acid 58 has been replaced by serine. The construct is tagged with Tag:FLAG.

(Forrest et al., 2013)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Vap33

Tagged with

Tag:FLAG

epitope tag

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.

(Forrest et al., 2013)

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

(Forrest et al., 2013)

model of amyotrophic lateral sclerosis type 8

CEA

(Sanhueza et al., 2015)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of amyotrophic lateral sclerosis

is ameliorated by Pi4KIIIα^VDRC.cUa

(Forrest et al., 2013)

is ameliorated by fwd^VDRC.cUa

(Forrest et al., 2013)

model of amyotrophic lateral sclerosis type 8

is ameliorated by 14-3-3ζ^EY06147

(Sanhueza et al., 2015)

is exacerbated by 14-3-3ζ^GD16467

(Sanhueza et al., 2015)

is ameliorated by CaBP1^GD4938

(Sanhueza et al., 2015)

is ameliorated by Cdk4^EY09330

(Sanhueza et al., 2015)

is ameliorated by Acsl^EY07112

(Sanhueza et al., 2015)

is exacerbated by Cdk4^GD11525

(Sanhueza et al., 2015)

is ameliorated by Charon^EY18569

(Sanhueza et al., 2015)

is ameliorated by Cul2^EY09124

(Sanhueza et al., 2015)

is exacerbated by CycB^GD10993

(Sanhueza et al., 2015)

is ameliorated by Dap160^EP2543

(Sanhueza et al., 2015)

is exacerbated by Acsl^GD1638

(Sanhueza et al., 2015)

is ameliorated by Act42A^EY05608

(Sanhueza et al., 2015)

is exacerbated by Act42A^GD1350

(Sanhueza et al., 2015)

is ameliorated by Akap200^EP2254

(Sanhueza et al., 2015)

is ameliorated by AlaRS^EY01137b

(Sanhueza et al., 2015)

is ameliorated by Diap2^G2326

(Sanhueza et al., 2015)

is exacerbated by Hr39^GD4462

(Sanhueza et al., 2015)

is ameliorated by Diap2^UAS.cUa

(Sanhueza et al., 2015)

is ameliorated by EP3104^EP3104

(Sanhueza et al., 2015)

is ameliorated by Eno^EY23161

(Sanhueza et al., 2015)

is ameliorated by Ero1L^G18511

(Sanhueza et al., 2015)

is exacerbated by Ero1L^GD3577

(Sanhueza et al., 2015)

is ameliorated by Fs(2)Ket^EY06666

(Sanhueza et al., 2015)

is ameliorated by HSPC300^G19021

(Sanhueza et al., 2015)

is exacerbated by Atg7^GD11671

(Sanhueza et al., 2015)

is ameliorated by CG10492^EY10125

(Sanhueza et al., 2015)

is exacerbated by CG10492^GD5326

(Sanhueza et al., 2015)

is ameliorated by CG10809^G4564

(Sanhueza et al., 2015)

is exacerbated by CG10809^GD7097

(Sanhueza et al., 2015)

is ameliorated by CG11125^G18969

(Sanhueza et al., 2015)

is exacerbated by CG11125^GD7205

(Sanhueza et al., 2015)

is ameliorated by CG12299^EY01579

(Sanhueza et al., 2015)

is exacerbated by CG12299^KK110913

(Sanhueza et al., 2015)

is ameliorated by HSPC300^HMS01465

(Sanhueza et al., 2015)

is ameliorated by Herc4^GD2240

(Sanhueza et al., 2015)

is ameliorated by CG13192^EY07746

(Sanhueza et al., 2015)

is ameliorated by IP3K1^UY530

(Sanhueza et al., 2015)

is exacerbated by CG13192^GD7958

(Sanhueza et al., 2015)

is ameliorated by CG13204^EY11838

(Sanhueza et al., 2015)

is ameliorated by Hr39^EY04579

(Sanhueza et al., 2015)

is ameliorated by Mef2^GD5039

(Sanhueza et al., 2015)

is exacerbated by CG13204^JF02209

(Sanhueza et al., 2015)

is ameliorated by CG18870^EY06926

(Sanhueza et al., 2015)

is ameliorated by Rab5^EY10619

(Sanhueza et al., 2015)

is ameliorated by Orai^EY01467

(Sanhueza et al., 2015)

is ameliorated by Pcl^EY08457

(Sanhueza et al., 2015)

is exacerbated by Rab5^HMS00147

(Sanhueza et al., 2015)

is exacerbated by CG18870^GD2129

(Sanhueza et al., 2015)

is ameliorated by CG3625^EY07089

(Sanhueza et al., 2015)

is ameliorated by RapGAP1^EY01137a

(Sanhueza et al., 2015)

is ameliorated by Pcl^GE15295

(Sanhueza et al., 2015)

is exacerbated by RapGAP1^LA00889

(Sanhueza et al., 2015)

is exacerbated by CG3625^GD780

(Sanhueza et al., 2015)

is exacerbated by Prosβ5^GD7568

(Sanhueza et al., 2015)

is ameliorated by CG4502^EY07938

(Sanhueza et al., 2015)

is ameliorated by Ric^G2693

(Sanhueza et al., 2015)

is exacerbated by Rab32^KK107695

(Sanhueza et al., 2015)

is ameliorated by Ric^UAS.cUa

(Sanhueza et al., 2015)

is ameliorated by CG46491^GD10091

(Sanhueza et al., 2015)

is ameliorated by CG4896^EY01431

(Sanhueza et al., 2015)

is ameliorated by CG8520^EY09481

(Sanhueza et al., 2015)

is exacerbated by CG8520^GD14805

(Sanhueza et al., 2015)

is ameliorated by CG9643^EY07345

(Sanhueza et al., 2015)

is ameliorated by Sec6^EY10058

(Sanhueza et al., 2015)

is ameliorated by Sgt^EY02712

(Sanhueza et al., 2015)

is exacerbated by Sgt^GD11532

(Sanhueza et al., 2015)

is exacerbated by Upf3^GD7228

(Sanhueza et al., 2015)

is ameliorated by Sirt1^EP2300

(Sanhueza et al., 2015)

is ameliorated by Sirt1^UAS.cUa

(Sanhueza et al., 2015)

is ameliorated by Snx17^EY05560

(Sanhueza et al., 2015)

is exacerbated by Snx17^GD11752

(Sanhueza et al., 2015)

is ameliorated by Spc105R^G4635

(Sanhueza et al., 2015)

is exacerbated by Spc105R^GL00392

(Sanhueza et al., 2015)

is ameliorated by Spp^G2086

(Sanhueza et al., 2015)

is exacerbated by Spp^GD786

(Sanhueza et al., 2015)

is exacerbated by Src42A^GD8338

(Sanhueza et al., 2015)

is ameliorated by Su(var)2-10^EY01453

(Sanhueza et al., 2015)

is exacerbated by Su(var)2-10^GD5048

(Sanhueza et al., 2015)

is ameliorated by Swim^EY09931

(Sanhueza et al., 2015)

is exacerbated by Swim^GD2147

(Sanhueza et al., 2015)

is exacerbated by Vps35^GD11710

(Sanhueza et al., 2015)

is ameliorated by ab^EY09709

(Sanhueza et al., 2015)

is ameliorated by aux^G6787

(Sanhueza et al., 2015)

is ameliorated by cos^EY08735

(Sanhueza et al., 2015)

is exacerbated by cos^k16101

(Sanhueza et al., 2015)

is ameliorated by crq^EY14489

(Sanhueza et al., 2015)

is exacerbated by crq^GD784

(Sanhueza et al., 2015)

is ameliorated by dock^GD4034

(Sanhueza et al., 2015)

is ameliorated by Syx6^EY14508

(Sanhueza et al., 2015)

is ameliorated by Syx7^G6457

(Sanhueza et al., 2015)

is ameliorated by T3dh^EY09338

(Sanhueza et al., 2015)

is exacerbated by T3dh^MB09825

(Sanhueza et al., 2015)

is ameliorated by Trap1^EY10238

(Sanhueza et al., 2015)

is ameliorated by dpa^EY04015

(Sanhueza et al., 2015)

is exacerbated by dpa^GD4445

(Sanhueza et al., 2015)

is ameliorated by drpr^UAS.cUa

(Sanhueza et al., 2015)

is ameliorated by fipi^EY20668

(Sanhueza et al., 2015)

is ameliorated by hpo^G3315

(Sanhueza et al., 2015)

is ameliorated by hpo^JF02740

(Sanhueza et al., 2015)

is ameliorated by Upf3^EY03241

(Sanhueza et al., 2015)

is ameliorated by Vamp7^G7738

(Sanhueza et al., 2015)

is exacerbated by hrg^GD14701

(Sanhueza et al., 2015)

is exacerbated by kis^GD16331

(Sanhueza et al., 2015)

is exacerbated by Vamp7^GD4531

(Sanhueza et al., 2015)

is ameliorated by Vps35^EY14200

(Sanhueza et al., 2015)

is ameliorated by klar^YG3

(Sanhueza et al., 2015)

is ameliorated by l(2)k05819^EY03384

(Sanhueza et al., 2015)

is exacerbated by l(2)k05819^GD521

(Sanhueza et al., 2015)

is exacerbated by milt^GD8116

(Sanhueza et al., 2015)

is ameliorated by milt^LA00951

(Sanhueza et al., 2015)

is ameliorated by qkr58E-3^EY02038

(Sanhueza et al., 2015)

is exacerbated by qkr58E-3^GD11020

(Sanhueza et al., 2015)

is ameliorated by rdgBβ^EP2360

(Sanhueza et al., 2015)

is ameliorated by rdgBβ^G8057

(Sanhueza et al., 2015)

is ameliorated by rho^EP3704

(Sanhueza et al., 2015)

is ameliorated by rho^UAS.cUa

(Sanhueza et al., 2015)

is ameliorated by robo2^EP2582

(Sanhueza et al., 2015)

is exacerbated by robo2^GD109

(Sanhueza et al., 2015)

is ameliorated by sca^GD1965

(Sanhueza et al., 2015)

is ameliorated by sm^GD12545

(Sanhueza et al., 2015)

is ameliorated by spag^EY11196

(Sanhueza et al., 2015)

is ameliorated by tej^EY20088

(Sanhueza et al., 2015)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Forrest et al., 2013)

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

abnormal neuroanatomy, with Scer\GAL4^RapGAP1-OK6

(Forrest et al., 2013)

visible, with Scer\GAL4^ey.PU

(Forrest et al., 2013)

Phenotype Manifest In

eye, with Scer\GAL4^ey.PU

(Forrest et al., 2013)

interommatidial bristle, with Scer\GAL4^ey.PU

(Forrest et al., 2013)

interommatidial bristle | increased number, with Scer\GAL4^ey.PU

(Forrest et al., 2013)

NMJ bouton, with Scer\GAL4^RapGAP1-OK6

(Forrest et al., 2013)

ommatidium, with Scer\GAL4^ey.PU

(Forrest et al., 2013)

Detailed Description

Statement

Reference

Flies expressing Vap-33-1^{P58S.Scer\UAS.T:Zzzz\FLAG} under the control of Scer\GAL4^ey.PU exhibit eye neurodegeneration and a 50% reduction in eye size. Interommatidial bristles are missing or supernumerary and ommatidia are occasionally fused.

Flies expressing Vap-33-1^{P58S.Scer\UAS.T:Zzzz\FLAG} under the control of Scer\GAL4^RapGAP1-OK6 show a reduction in the number of boutons and increase in their size.

(Forrest et al., 2013)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Scer\GAL4^ey.PU, Vap33^{P58S.UAS.Tag:FLAG} has visible phenotype, suppressible by fwd^VDRC.cUa/Scer\GAL4^ey.PU

(Forrest et al., 2013)

Scer\GAL4^ey.PU, Vap33^{P58S.UAS.Tag:FLAG} has abnormal neuroanatomy phenotype, suppressible by fwd^VDRC.cUa/Scer\GAL4^ey.PU

(Forrest et al., 2013)

Scer\GAL4^elav.PU, Vap33^{P58S.UAS.Tag:FLAG} has visible phenotype, suppressible by Pi4KIIIα^VDRC.cUa, Scer\GAL4^elav.PU

(Forrest et al., 2013)

Scer\GAL4^ey.PU, Vap33^{P58S.UAS.Tag:FLAG} has abnormal neuroanatomy phenotype, suppressible by Pi4KIIIα^VDRC.cUa, Scer\GAL4^ey.PU

(Forrest et al., 2013)

Scer\GAL4^RapGAP1-OK6, Vap33^{P58S.UAS.Tag:FLAG} has abnormal neuroanatomy phenotype, suppressible by Scer\GAL4^RapGAP1-OK6/fwd^VDRC.cUa

(Forrest et al., 2013)

Phenotype Manifest In

Suppressed by

Statement

Reference

Scer\GAL4^ey.PU, Vap33^{P58S.UAS.Tag:FLAG} has eye phenotype, suppressible by fwd^VDRC.cUa/Scer\GAL4^ey.PU

(Forrest et al., 2013)

Scer\GAL4^ey.PU, Vap33^{P58S.UAS.Tag:FLAG} has eye phenotype, suppressible by Pi4KIIIα^VDRC.cUa/Scer\GAL4^elav.PU

(Forrest et al., 2013)

Scer\GAL4^RapGAP1-OK6, Vap33^{P58S.UAS.Tag:FLAG} has NMJ bouton phenotype, suppressible by Scer\GAL4^RapGAP1-OK6/fwd^VDRC.cUa

(Forrest et al., 2013)

Additional Comments

Genetic Interactions

Statement

Reference

Expression of fwd^VDRC.cUa significantly suppresses the neurodegenerative eye phenotype and reduction in eye size seen when Vap-33-1^{P58S.Scer\UAS.T:Zzzz\FLAG} is expressed under the control of Scer\GAL4^ey.PU.

Expression of PI4KIIIalpha^VDRC.cUa significantly suppresses the neurodegenerative eye phenotype and reduction in eye size seen when Vap-33-1^{P58S.Scer\UAS.T:Zzzz\FLAG} is expressed under the control of Scer\GAL4^ey.PU.

Expression of fwd^VDRC.cUa significantly suppresses the reduction in the number of boutons and increase in their size seen when Vap-33-1^{P58S.Scer\UAS.T:Zzzz\FLAG} is expressed under the control of Scer\GAL4^RapGAP1-OK6.

(Forrest et al., 2013)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

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.Scer\UAS.T:Zzzz\FLAG}

Vap-33A^{P58S.Scer\UAS.T:Zzzz\FLAG}

Vap33^{P58S.Scer\UAS.T:Zzzz\FLAG}

Vap33^{P58S.UAS.Tag:FLAG}

Name Synonyms

Secondary FlyBase IDs

References (3)

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