FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\TER94P134L.sfGFP
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General Information
Symbol
Dmel\TER94P134L.sfGFP
Species
D. melanogaster
Name
FlyBase ID
FBal0367213
Feature type
allele
Associated gene
Dmel\TER94
Associated Insertion(s)
TI{TI}TER94P134L.sfGFP
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Johnson et al., 2021)
gene targeting by homologous recombination
(Johnson et al., 2021)
Progenitor genotype
Associated Insertion(s)
TI{TI}TER94P134L.sfGFP
Cytology
Description

A P134L amino acid substitution has been introduced into the endogenous TER94 locus. This change is equivalent to a P137L change in the orthologous human VCP gene, a pathogenic variant.

(Johnson et al., 2021)

A sfGFP tag has also been inserted.

(Johnson et al., 2021)
Allele components
Component
Use(s)
Tagged with
sfGFP
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:9,990,940..9,990,940 [+]
Nucleotide change:

C9990940T

Reported nucleotide change:

C>T

Amino acid change:

P134L | TER94-PA; P159L | TER94-PC; P92L | TER94-PD; P159L | TER94-PE

Reported amino acid change:

P134L

Comment:

Analogous P137L mutation in human VCP implicated in inclusion body myopathy with early-onset Paget disease.

(Johnson 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.
      (Johnson et al., 2021)
      VCP:p.Pro137Leu
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      VCP:p.Pro92Leu
      Associated human disease model(s)
      External database links
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      TER94P134L.sfGFP heterozygosity leads to fragmentation of the lysosome tubule network in muscles: decreased number of junctions per tubule and decreased tubule length and density.

      TER94P134L.sfGFP heterozygous adults show a progressive decrease in climbing ability. DLM motoneuron neuromuscular junction recordings in aged adults show failure. Neuromuscular junctions show a decrease in active zones (with some boutons without active zones).

      (Johnson et al., 2021)

      TER94P134L.sfGFP heterozygotes show decreased short-term memory in phototaxic suppression assay. Their larval body wall muscles are disorganized 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
      TER94P134L.sfGFP
      Name Synonyms
      Secondary FlyBase IDs
        References (3)