FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\escT2A-H238Y
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General Information
Symbol
Dmel\escT2A-H238Y
Species
D. melanogaster
Name
FlyBase ID
FBal0410195
Feature type
allele
Associated gene
Dmel\esc
Associated Insertion(s)
TI{TI}escT2A-H238Y
Carried in Construct
Key Links
Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
phiC31 integrase
(Cyrus et al., 2025)
Progenitor genotype
TI{CRIMIC.TG4.0}escCR00712-TG4.0
(Cyrus et al., 2025)
Associated Insertion(s)
TI{TI}escT2A-H238Y
Cytology
Description

The RMCE cassette of the TI{CRIMIC.TG4.0}escCR00712-TG4.0 insertion in the third intron of esc has been replaced by a sequence cassette containing a splice acceptor, mutated esc exon 4 sequence, a polyadenylation signal and a Disc\RFPDsRed.3xP3.cUa marker, resulting in the expression of the mutant esc protein under the control of endogenous regulatory sequence. The mutated esc sequence contains a H238Y amino acid replacement, which is equivalent to a H258Y change in the orthologous human EED gene, a variant that is associated with Cohen-Gibson syndrome.

(Cyrus et al., 2025)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
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.
      (Cyrus et al., 2025)
      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
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      escT2A-H238Y
      Name Synonyms
      Secondary FlyBase IDs
        References (1)