FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Gcn5F304S.UAS.Tag:FLAG
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General Information
Symbol
Dmel\Gcn5F304S.UAS.Tag:FLAG
Species
D. melanogaster
Name
FlyBase ID
FBal0344779
Feature type
allele
Associated gene
Dmel\Gcn5
Associated Insertion(s)
Carried in Construct
P{UAS-Gcn5.F304S.FLAG}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Gonçalves et al., 2018)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Gonçalves et al., 2018)
Mutagen
in vitro construct
(Gonçalves et al., 2018)
Progenitor genotype
Carried in construct
P{UAS-Gcn5.F304S.FLAG}
Cytology
Description

UASt regulatory sequences drive expression of Gcn5 that has been mutated to contain the F304S amino acid replacement (this is equivalent to the F307S mutation in the human Hsap\KAT2B ortholog; F307S is a potentially damaging mutation found to be segregating with the disease phenotype in a family with intellectual disability, microcephaly, cardiomyopathy and steroid-resistant nephrotic syndrome). The coding sequence is tagged at the C-terminal end with Tag:FLAG.

(Gonçalves et al., 2018)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Gcn5
Tagged with
Tag:FLAG
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3L:12,522,993..12,522,993 [-]
Nucleotide change:

T12522993C

Amino acid change:

F304S | Gcn5-PA

Comment:

Analogous F307S mutation in human KAT2B implicated in intellectual disability, syndromic, with renal and cardiac dysfunction; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Gonçalves et al., 2018)
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  cardiomyopathy
      CEA
      (Gonçalves et al., 2018)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      The disease model involves expression of Gcn5F304S.UAS.Tag:FLAG in a Gcn5E333st/Y hemizygous background.

      (Gonçalves et al., 2018)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Gonçalves et al., 2018)
      KAT2B:p.Phe307Ser
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Gcn5E333st/Df(3L)sex204 transheterozygotes rescued to adulthood by the expression of Gcn5F304S.UAS.Tag:FLAG under the control of Scer\GAL4da.G32 are flightless and exhibit fully penetrant blistered wing and small, mildly rough eye phenotypes, and exhibit frequent leg morphology defects. They show cardiac defects: significant decreases in cardiac output, diastolic diameter and fractional shortening, and significant increases in heart period and arrhythmia index. They also show abnormally-shaped pericardial nephrocytes.

      (Gonçalves et al., 2018)
      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

      Gcn5F304S.UAS.Tag:FLAG/Scer\GAL4da.G32 partially rescues Df(3L)sex204/Gcn5E333st

      (Gonçalves et al., 2018)

      Gcn5F304S.UAS.Tag:FLAG/Scer\GAL4αTub84B.PL partially rescues Df(3L)sex204/Gcn5E333st

      (Gonçalves et al., 2018)
      Comments

      Expressing Gcn5F304S.UAS.Tag:FLAG under the control of either Scer\GAL4da.G32 or Scer\GAL4αTub84B.PL partially rescues the full lethality of Gcn5E333st/Df(3L)sex204, giving rise to only a few adults that die a few days after eclosion (Scer\GAL4da.G32), or to nearly half of the expected adult progeny (Scer\GAL4αTub84B.PL).

      (Gonçalves et al., 2018)
      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
      Gcn5F304S.UAS.Tag:FLAG
      Name Synonyms
      Secondary FlyBase IDs
        References (2)