FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\skyR281C.UAS.GFP
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General Information
Symbol
Dmel\skyR281C.UAS.GFP
Species
D. melanogaster
Name
FlyBase ID
FBal0325136
Feature type
allele
Associated gene
Dmel\sky
Associated Insertion(s)
Carried in Construct
PBac{UAS-sky.R281C.GFP}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Fischer et al., 2016)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Fischer et al., 2016)
Mutagen
in vitro construct
(Fischer et al., 2016)
Progenitor genotype
Carried in construct
PBac{UAS-sky.R281C.GFP}
Cytology
Description

UAS regulatory sequences drive expression of sky cDNA (BDGP clone LD10117) with a mutation (R281C) that affects phosphoinositide binding, tagged at the N-terminal with GFP.

(Fischer et al., 2016)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
sky
Tagged with
GFP
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2L:20,877,321..20,877,321 [-]
Nucleotide change:

C20877321T

Amino acid change:

R281C | sky-PA; R281C | sky-PB; R286C | sky-PC; R281C | sky-PD; R281C | sky-PE; R286C | sky-PF; R281C | sky-PG; R281C | sky-PH; R286C | sky-PI; R281C | sky-PJ; R281C | sky-PK; R281C | sky-PL

Reported amino acid change:

R281C

Comment:

Analogous R242C mutation in human TBC1D24 implicated in DOORS syndrome; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Fischer 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.
      (Fischer et al., 2016)
      TBC1D24:p.Arg242Cys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: TBC1D24_91395
      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
      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
      skyR281C.Scer\UAS.T:Avic\GFP
      skyR281C.UAS.GFP
      Name Synonyms
      Secondary FlyBase IDs
        References (2)