FB2024_03 , released June 25, 2024
Allele: Dmel\E(z)A691G.αTub84B.EGFP
Open Close
General Information
Symbol
Dmel\E(z)A691G.αTub84B.EGFP
Species
D. melanogaster
Name
FlyBase ID
FBal0392952
Feature type
allele
Associated gene
Dmel\E(z)
Associated Insertion(s)
Carried in Construct
PBac{αTub84B-EGFP-E(z).A691G}
Key Links
Genomic Maps

Transgenic product class
gain_of_function_variant
(Jangam et al., 2023)
missense_variant
(Jangam et al., 2023)
Mutagen
Nature of the Allele
Transgenic product class
gain_of_function_variant
(Jangam et al., 2023)
missense_variant
(Jangam et al., 2023)
Mutagen
in vitro construct
(Jangam et al., 2023)
Progenitor genotype
Carried in construct
PBac{αTub84B-EGFP-E(z).A691G}
Cytology
Description

An αTub84B promoter drives expression of E(z) which is tagged at the N-terminal end with EGFP. The coding sequence has been mutated to carry a A691G amino acid substitution. This change is equivalent to a A678G change in the orthologous human EZH1 gene, a variant identified in an individual with a neurodevelopmental disorder.

(Jangam et al., 2023)
Allele components
Component
Use(s)
Regulatory region(s)
αTub84B
Encoded product / tool
E(z)
Tagged with
EGFP
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3L:10,634,849..10,634,849 [-]
Nucleotide change:

C10634849G

Reported nucleotide change:

C?G

Amino acid change:

A691G | E(z)-PA; A691G | E(z)-PB; A696G | E(z)-PC

Reported amino acid change:

A691G

Comment:

Analogous mutation in human EZH1 implicated in syndromic intellectual disability; mutation carried on in vitro construct.

(Jangam et al., 2023)
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
      (Jangam 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.
      (Jangam et al., 2023)
      EZH1:p.Ala678Gly
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      EZH1:p.Ala638Gly
      EZH1:p.Ala669Gly
      EZH1:p.Ala684Gly
      Associated human disease model(s)
      External database links
      ClinVar: 977755
      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

      m

      (Jangam et al., 2023)
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      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
      E(z)A691G.αTub84B.EGFP
      Name Synonyms
      Secondary FlyBase IDs
        References (2)