FB2025_01 , released February 20, 2025
Allele: Dmel\TER94R152H.UAS.cRa
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General Information
Symbol
Dmel\TER94R152H.UAS.cRa
Species
D. melanogaster
Name
FlyBase ID
FBal0282576
Feature type
allele
Associated gene
Dmel\TER94
Associated Insertion(s)
Carried in Construct
P{UAS-VCP.R152H}
Also Known As
UAS-VCPR152H
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Rumpf et al., 2011)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Rumpf et al., 2011)
Mutagen
in vitro construct
(Rumpf et al., 2011)
Progenitor genotype
Carried in construct
P{UAS-VCP.R152H}
Cytology
Description

Amino acid replacement: R152H.

(Rumpf et al., 2011)

UAS regulatory sequences drive expression of constitutively active TER94 coding sequences.

(Rumpf et al., 2011)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
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

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; site of nucleotide substitution in fly gene and specific disease association inferred by FlyBase curator.

(Rumpf 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 ( 0 )
      Disease
      Evidence
      References
      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.
      (Rumpf 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
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of TER94R152H.UAS.cRa under the control of Scer\GAL4Mef2.PR results in defects in mitochondrial morphology (swollen mitochondria) in adult indirect flight muscles.

      (Wang et al., 2016)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Suppressed by
      Additional Comments
      Genetic Interactions
      Statement
      Reference

      The abnormal swollen mitochondria phenotype observed in indirect flight muscles of adult flies expressing TER94R152H.UAS.cRa under the control of Scer\GAL4Mef2.PR can be suppressed by co-expression of cluUAS.Tag:MYC.

      (Wang et al., 2016)
      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 (2)
      Reported As
      Symbol Synonym
      TER94R152H.Scer\UAS.cRa
      TER94R152H.UAS.cRa
      Name Synonyms
      Secondary FlyBase IDs
        References (3)