FB2026_02 , released June 18, 2026
FB2026_02 , released June 18, 2026
Allele: Dmel\sxcL283F
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General Information
Symbol
Dmel\sxcL283F
Species
D. melanogaster
Name
FlyBase ID
FBal0375028
Feature type
allele
Associated gene
Dmel\sxc
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Fenckova et al., 2022)
gene targeting by homologous recombination
(Fenckova et al., 2022)
Progenitor genotype
Cytology
Description

Amino acid replacement L283F. This change is equivalent to a L254F change in the orthologous human OGT gene, a variant associated with intellectual disability.

(Fenckova et al., 2022)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
delins
2R:5,325,835..5,325,855 [+]
Comment:

Six nucleotide changes affecting five codons results in an L283F amino acid change (CTA to TTC in L283 codon). The other changes are silent substitutions. Analogous mutation in human Hsap/OGT implicated in intellectual disability, X-linked.

Inserted_sequence:

TTCTCTCCGAACAACGCCGTG

(Fenckova et al., 2022)
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 )
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  non-syndromic X-linked intellectual disability 106
      is ameliorated by OgaKO
      (Fenckova et al., 2022)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Fenckova et al., 2022)
      OGT:p.Leu254Phe
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      OGT:p.Leu244Phe
      Associated human disease model(s)
      External database links
      ClinVar: 428570
      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
      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
      sxcL283F
      (Fenckova et al., 2022)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)