FB2024_03 , released June 25, 2024
Allele: Dmel\FIG4D53Y.UAS.Tag:MYC
Open Close
General Information
Symbol
Dmel\FIG4D53Y.UAS.Tag:MYC
Species
D. melanogaster
Name
FlyBase ID
FBal0322835
Feature type
allele
Associated gene
Dmel\FIG4
Associated Insertion(s)
Carried in Construct
P{UAS-Myc-FIG4.D53Y}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Bharadwaj et al., 2016)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Bharadwaj et al., 2016)
Mutagen
in vitro construct
(Bharadwaj et al., 2016)
Progenitor genotype
Carried in construct
P{UAS-Myc-FIG4.D53Y}
Cytology
Description

UAS regulatory sequences drive expression of a mutated form of FIG4 that carries the amino acid replacement D53Y (this mutation is equivalent to a pathogenic mutation associated with disease in the orthologous human gene). The protein is tagged at the N-terminal end with Tag:MYC.

(Bharadwaj et al., 2016)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
FIG4
Tagged with
Tag:MYC
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2L:4,465,467..4,465,469 [+]
Reported amino acid change:

E58Y

Comment:

Analagous codon mutation in human FIG4 implicated in ALS11; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Bharadwaj et al., 2016)
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.
      (Bharadwaj et al., 2016)
      FIG4:p.Asp53Tyr
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: FIG4_1728
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      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
      Partially rescues

      FIG4D53Y.UAS.Tag:MYC/Scer\GAL4Mef2.PU partially rescues FIG4Δ1

      (Bharadwaj et al., 2016)
      Comments

      Expression of FIG4D53Y.Scer\UAS.T:Hsap\MYC under the control of Scer\GAL4Mef2.PU partially rescues the lysosome expansion phenotype in somatic muscles of FIG4Δ1 homozygous third instar larvae.

      (Bharadwaj et al., 2016)
      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
      FIG4D53Y.Scer\UAS.T:Hsap\MYC
      FIG4D53Y.UAS.Tag:MYC
      Name Synonyms
      Secondary FlyBase IDs
        References (2)