FB2025_01 , released February 20, 2025
Allele: Dmel\TER94L195W.sfGFP
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General Information
Symbol
Dmel\TER94L195W.sfGFP
Species
D. melanogaster
Name
FlyBase ID
FBal0369086
Feature type
allele
Associated gene
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Progenitor genotype
Associated Insertion(s)
Cytology
Description

Amino acid replacement: L195W.

The endogenous TER94 gene has been replaced with a sequence containing a L195W mutation (equivalent to L198W in human VCP, which is pathogenic), together with a C-terminal sfGFP tag incorporated before the stop codon and a "3xP3-DsRed" selectable marker.

Allele components
Component
Use(s)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Nucleotide change:

CTA9991122TGG

Amino acid change:

L195W | TER94-PA; L220W | TER94-PC; L153W | TER94-PD; L220W | TER94-PE

Reported amino acid change:

L195W

Comment:

Analogous L198W mutation in human VCP implicated in FTDALS6 and/or IBMPFD1 (MSP-1) disease; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

Variant Molecular Consequences
Associated Sequence Data
DNA sequence
Protein sequence
 
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 )
Modifiers Based on Experimental Evidence ( 0 )
Disease
Interaction
References
Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
 
Disease-implicated variant(s)
 
This allele represents a human variant implicated in disease.
VCP:p.Leu198Trp
Variants Synonym(s)
VCP:p.Leu143Trp
Comments concerning this variant
Phenotypic Data
Phenotypic Class
Phenotype Manifest In
Detailed Description
Statement
Reference

TER94L195W.sfGFP heterozygotes show a progressive decrease in climbing ability in males only. Their larval body wall muscles are disorganized and show smaller nuclei with disorganized lamina, and show lysosomal defects.

External Data
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)
Notes on Origin
Discoverer
External Crossreferences and Linkouts ( 0 )
Synonyms and Secondary IDs (1)
Reported As
Symbol Synonym
TER94L195W.sfGFP
Name Synonyms
Secondary FlyBase IDs
    References (2)