FlyBase Allele Report: Dmel\TER94[A229E.UAS.R]

General Information

Symbol

Dmel\TER94^A229E.UAS.R

Species

D. melanogaster

Name

FlyBase ID

FBal0261044

Feature type

allele

Associated gene

Dmel\TER94

Associated Insertion(s)

Carried in Construct

P{UAS-TER94.A229E}

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Ritson et al., 2010)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Ritson et al., 2010)

Mutagen

in vitro construct

(Ritson et al., 2010)

Progenitor genotype

Carried in construct

P{UAS-TER94.A229E}

Cytology

Description

Amino acid replacement: A229E.

(Ritson et al., 2010)

UAS regulatory sequences drive expression of mutated TER94 coding sequences.

(Ritson et al., 2010)

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:9,991,225..9,991,226 [+]

Comment:

GCC to GAA/G mutation. Analogous mutation in human VCP implicated in inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Ritson et al., 2010)

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 neurodegenerative disease

CEA

(Ritson et al., 2010)

model of frontotemporal dementia and/or amyotrophic lateral sclerosis 6

CEA

(Tendulkar et al., 2022)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 2 )

Eye degeneration used to model disease. Point mutation in TER94^{A229E.Scer\UAS.R} models that associated with the most severe form of Inclusion Body Myopathy associated with Paget’s Disease of Bone

(Ritson et al., 2010)

and Frontotemporal Dementia.

(Ritson et al., 2010)

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Ritson et al., 2010)

VCP:p.Ala232Glu

(FlyBase curators, 2019-)

Variants Synonym(s)

VCP:p.Ala187Glu

Associated human disease model(s)

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

External database links

ClinVar: VCP_8470

Comments concerning this variant

Phenotypic Data

Phenotypic Class

increased cell death, with Scer\GAL4^GMR.PF

(Ritson et al., 2010)

Phenotype Manifest In

eye, with Scer\GAL4^GMR.PF

(Ritson et al., 2010)

ommatidium, with Scer\GAL4^GMR.PF

(Ritson et al., 2010)

Detailed Description

Statement

Reference

Expression of TER94^{A229E.Scer\UAS.R} in the developing eye under the control of Scer\GAL4^GMR.PF generates a severe rough eye phenotype with necrotic patches and histologically evident marked vacuolar degeneration.

(Ritson et al., 2010)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

95267

w¹¹¹⁸; P{UAS-TER94.A229E}2/CyO

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

TER94^{A229E.Scer\UAS.R}

TER94^A229E.UAS.R

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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