FB2025_01 , released February 20, 2025
Allele: Hsap\DOT1LE129K.UAS.Tag:HA
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General Information
Symbol
Hsap\DOT1LE129K.UAS.Tag:HA
Species
H. sapiens
Name
FlyBase ID
FBal0397207
Feature type
allele
Associated gene
Hsap\DOT1L
Associated Insertion(s)
Carried in Construct
PBac{UAS-hDOT1L.E129K.HA}
Key Links
Transgenic product class
gain_of_function_variant
(Nil et al., 2023)
missense_variant
(Nil et al., 2023)
Mutagen
Nature of the Allele
Transgenic product class
gain_of_function_variant
(Nil et al., 2023)
missense_variant
(Nil et al., 2023)
Mutagen
in vitro construct
(Nil et al., 2023)
Progenitor genotype
Carried in construct
PBac{UAS-hDOT1L.E129K.HA}
Cytology
Description

UASt regulatory sequences drive expression of the full-length Hsap\DOT1L open reading frame (corresponds to GB:NM_032482.3), mutated to carry a p.Glu129Lys change (variant identified in a patient with global developmental delay). The coding sequence is tagged at the C-terminal end with three copies of Tag:HA. The human ORF is flanked by a pair of incompatible FRT sites (FRT5 and FRT2), which allows for future in vivo exchange of either the promoter or tag sequence.

(Nil et al., 2023)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\DOT1L
Tagged with
Tag:HA
Also carries
FRT2
FRT5
loxP
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 ( 1 )
      Disease
      Evidence
      References
      model of  syndromic intellectual disability
      CEA
      (Nil et al., 2023)
      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.
      (Nil et al., 2023)
      DOT1L:p.Glu129Lys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      DOT1L:Glu129Lys
      Associated human disease model(s)
      External database links
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      External Data
      Interactions
      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
      Hsap\DOT1LE129K.UAS.Tag:HA
      Name Synonyms
      Secondary FlyBase IDs
        References (2)