FB2025_01 , released February 20, 2025
Allele: Dmel\auxDNAJC6m.UAS.Tag:FLAG
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General Information
Symbol
Dmel\auxDNAJC6m.UAS.Tag:FLAG
Species
D. melanogaster
Name
FlyBase ID
FBal0392450
Feature type
allele
Associated gene
Dmel\aux
Associated Insertion(s)
Carried in Construct
P{UAS-aux.DNAJC6m.FLAG}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Zhang et al., 2023)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Zhang et al., 2023)
Mutagen
in vitro construct
(Zhang et al., 2023)
Progenitor genotype
Carried in construct
P{UAS-aux.DNAJC6m.FLAG}
Cytology
Description

UASt regulatory sequences drive expression of aux with the human disease-relevant R1119G mutation; tagged with 3xTag:FLAG at the N-terminal.

(Zhang et al., 2023)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
aux
Tagged with
Tag:FLAG
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:4,226,659..4,226,659 [+]
Nucleotide change:

C4226659G

Amino acid change:

R1119G | aux-PA; R1119G | aux-PB; R1107G | aux-PC; R1111G | aux-PD

Reported amino acid change:

R1119G

Comment:

Analogous mutation in human DNAJC6 implicated in Parkinson disease, susceptibility to, auxilin-related; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Zhang et al., 2023)
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  Parkinson's disease
      CEA
      (Zhang et al., 2023)
      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.
      (Zhang et al., 2023)
      DNAJC6:p.Arg927Gly
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      DNAJC6:p.Arg857Gly
      DNAJC6:p.Arg870Gly
      Associated human disease model(s)
      External database links
      ClinVar: 253094
      Comments concerning this variant
      Phenotypic 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
      Partially rescues

      Scer\GAL4repo.PU/auxDNAJC6m.UAS.Tag:FLAG partially rescues auxGD7187

      (Zhang et al., 2023)
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      auxDNAJC6m.UAS.Tag:FLAG
      Name Synonyms
      Secondary FlyBase IDs
        References (2)