FB2025_01 , released February 20, 2025
Allele: Dmel\TER94L195W.sfGFP
Open Close
General Information
Symbol
Dmel\TER94L195W.sfGFP
Species
D. melanogaster
Name
FlyBase ID
FBal0369086
Feature type
allele
Associated gene
Dmel\TER94
Associated Insertion(s)
TI{TI}TER94L195W.sfGFP
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Wall et al., 2021)
Progenitor genotype
Associated Insertion(s)
TI{TI}TER94L195W.sfGFP
Cytology
Description

Amino acid replacement: L195W.

(Wall et al., 2021)

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.

(Wall et al., 2021)
Allele components
Component
Use(s)
Tagged with
sfGFP
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
MNV
2R:9,991,122..9,991,124 [+]
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.

(Wall et al., 2021)
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 )
      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.
      (Wall et al., 2021)
      VCP:p.Leu198Trp
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      VCP:p.Leu143Trp
      Associated human disease model(s)
      External database links
      UniProtKB/Swiss-Prot variant: VAR_076468.html
      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.

      (Wall et al., 2021)
      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)