FlyBase Allele Report: Dmel\TER94[R152H.UAS]

General Information

Symbol

Dmel\TER94^R152H.UAS

Species

D. melanogaster

Name

FlyBase ID

FBal0258033

Feature type

allele

Associated gene

Dmel\TER94

Associated Insertion(s)

Carried in Construct

P{UAS-TER94.R152H.C}

Also Known As

UAS-TER94^R152H

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Chang et al., 2011)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Chang et al., 2011)

Mutagen

in vitro construct

(Chang et al., 2011)

Progenitor genotype

Carried in construct

P{UAS-TER94.R152H.C}

Cytology

Description

UAS regulatory sequences drive expression of an R152H mutant of TER94.

(Chang et al., 2011)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

TER94

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:9,990,994..9,990,994 [+]

Nucleotide change:

G9990994A

Reported nucleotide change:

G?A

Amino acid change:

R152H | TER94-PA; R177H | TER94-PC; R110H | TER94-PD; R177H | TER94-PE

Reported amino acid change:

R152H

Comment:

R152H mutation reported relative to TER94-PA. Analogous mutation in human VCP implicated in IBMPFD1 and ALS14; mutation carried on in vitro construct; specific disease association inferred by FlyBase curator.

(Chang et al., 2011)

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 inclusion body myopathy with Paget disease of bone and frontotemporal dementia

CEA

(Viswanathan et al., 2016, Johnson et al., 2015, Chang et al., 2011)

CEC

(Liang et al., 2014)

model of inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1

CEA

(Zhang et al., 2017)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of inclusion body myopathy with Paget disease of bone and frontotemporal dementia

is ameliorated by Der-1^UAS.cLa

(Liang 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.

(Chang et al., 2011)

VCP:p.Arg155His

(FlyBase curators, 2019-)

Variants Synonym(s)

VCP:p.Arg110His

Associated human disease model(s)

External database links

ClinVar: VCP_8468

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy, with Scer\GAL4^elav-C155

(Chang et al., 2011)

flightless, with Scer\GAL4^Mhc.PW

(Chang et al., 2011)

Phenotype Manifest In

adult heart, with Scer\GAL4^Hand.PU

(Viswanathan et al., 2016)

adult mushroom body, with Scer\GAL4^elav-C155

(Chang et al., 2011)

embryonic dorsal vessel | embryonic stage 16, with Scer\GAL4^how-24B

(Viswanathan et al., 2016)

embryonic heart cardioblast | embryonic stage 16, with Scer\GAL4^how-24B

(Viswanathan et al., 2016)

embryonic somatic muscle cell | embryonic stage 16, with Scer\GAL4^how-24B

(Viswanathan et al., 2016)

eye photoreceptor cell, with Scer\GAL4^GMR.PF, TER94^UAS.cCa

(Chang et al., 2011)

larval somatic muscle cell | third instar larval stage, with Scer\GAL4^C57

(Johnson et al., 2015)

lysosome | third instar larval stage, with Scer\GAL4^C57

(Johnson et al., 2015)

muscle cell | embryonic stage, with Scer\GAL4^how-24B

(Chang et al., 2011)

outer photoreceptor cell, with Scer\GAL4^ninaE.PT

(Chang et al., 2011)

rhabdomere, with Scer\GAL4^GMR.PF

(Chang et al., 2011)

Detailed Description

Statement

Reference

Expression of TER94^{A229E.Scer\UAS} under the control of Scer\GAL4^Hand.PU does not cause any obvious morphological defects in the adult heart although the diastolic diameter and fractional shortening is reduced in both 1 and 5 weeks old flies compared to age-matched controls. Expression under the Scer\GAL4^how-24B disrupts both the cardioblasts organization and the intersegmental somatic muscle pattern and leads to abnormal twisting of the dorsal vessel in stage 16 embryos.

(Viswanathan et al., 2016)

Expression of TER94^{R152H.Scer\UAS} under the control of Scer\GAL4^C57 disrupts lysosomal tubular network in third instar larval muscles.

(Johnson et al., 2015)

Embryos overexpressing TER94^{R152H.Scer\UAS} driven by Scer\GAL4^how-24B display disorganised muscle fibers.

Flies expressing TER94^{R152H.Scer\UAS} under the control of Scer\GAL4^Mhc.PW show impaired flight.

Expression of TER94^{R152H.Scer\UAS} under the control of Scer\GAL4^elav-C155 results in a mushroom body midline-crossing phenotype in mutant brains.

Flies expressing TER94^{R152H.Scer\UAS} under the control of Scer\GAL4^elav-C155 do not exhibit any detectable deficit in olfactory learning.

Rhabdomeres are disorganised in the retinas of flies expressing TER94^{R152H.Scer\UAS} under the control of Scer\GAL4^GMR.PF, although the eyes appear normal externally.

Retinas from flies expressing TER94^{R152H.Scer\UAS} under the control of Scer\GAL4^ninaE.PT show a cell-autonomous progressive degeneration of outer R cells and rhabdomere disorganisation. Dietary restriction ameliorates the photoreceptor cell phenotype. Constant darkness also mitigates photoreceptor degradation.

Heterozygosity for TER94^k15502 ameliorates the rough eye and photoreceptor cell phenotypes resulting from the overexpression of TER94^{R152H.Scer\UAS} under the control of Scer\GAL4^GMR.PF.

Co-expression of TER94^Scer\UAS.cCa and TER94^{R152H.Scer\UAS} under the control of Scer\GAL4^GMR.PF results in rough eye and photoreceptor cell abnormalities.

(Chang et al., 2011)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Scer\GAL4^GMR.PF, TER94^R152H.UAS has visible phenotype, suppressible by Der-1^UAS.cLa, Scer\GAL4^GMR.PF

(Liang et al., 2014)

Phenotype Manifest In

Suppressed by

Statement

Reference

Scer\GAL4^GMR.PF, TER94^R152H.UAS has eye phenotype, suppressible by Der-1^UAS.cLa, Scer\GAL4^GMR.PF

(Liang et al., 2014)

Scer\GAL4^GMR.PF, TER94^R152H.UAS has photoreceptor phenotype, suppressible by Der-1^UAS.cLa, Scer\GAL4^GMR.PF

(Liang et al., 2014)

Additional Comments

Genetic Interactions

Statement

Reference

Expression of Der-1^Scer\UAS.cLa completely suppresses the rough eye phenotype and underlying photoreceptor degeneration seen when TER94^{R152H.Scer\UAS} is expressed under the control of Scer\GAL4^GMR.PF.

(Liang et al., 2014)

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 (3)

Reported As

Symbol Synonym

TER94^{R152H.Scer\UAS}

TER94^R152H.UAS

TER94^R152H

(Chan et al., 2012)

Name Synonyms

Secondary FlyBase IDs

References (7)

Report Sections

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