FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Ube3atC941A
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General Information
Symbol
Dmel\Ube3atC941A
Species
D. melanogaster
Name
FlyBase ID
FBal0244608
Feature type
allele
Associated gene
Dmel\Ube3a
Associated Insertion(s)
Carried in Construct
P{Ube3a.C941A}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Wu et al., 2008)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Wu et al., 2008)
Mutagen
in vitro construct
(Wu et al., 2008)
Progenitor genotype
Carried in construct
P{Ube3a.C941A}
Cytology
Description

13kb genomic DNA fragment spanning Ube3a, carrying a C941A substitution.

(Wu et al., 2008)
Allele components
Component
Use(s)
Regulatory region(s)
Ube3a
Encoded product / tool
Ube3a
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3L:11,206,897..11,206,898 [-]
Comment:

C941A (TGC to GCC) mutation Analogous mutation in human UBE3A implicated in Angelman syndrome; mutation carried on in vitro construct.

(Wu et al., 2008)
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.
      (Wu et al., 2008)
      UBE3A:p.Cys843Ala
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      UBE3A:p.Cys820Ala
      UBE3A:p.Cys840Ala
      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
      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
      Fails to rescue

      Ube3atC941A fails to rescue Ube3a35

      (Li et al., 2016)

      Ube3atC941A fails to rescue Ube3a15B

      (Wu et al., 2008)
      Comments

      Ube3atC941A fails to restore total bouton number and satellite boutons to wild type levels at the neuromuscular junction in Ube3a35/Ube3a35 third instar larvae.

      (Li et al., 2016)

      Ube3atC941A does not rescue the climbing-defects observed in Ube3a15B mutant flies.

      (Wu et al., 2008)
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      Ube3atC941A
      ube3aC941A
      (Li et al., 2016)
      Name Synonyms
      Secondary FlyBase IDs
        References (4)