FB2026_03 , released September 17, 2026
Allele: Hsap\CC2D1AMR.l(2)gd1.Tag:HA
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General Information
Symbol
Hsap\CC2D1AMR.l(2)gd1.Tag:HA
Species
H. sapiens
Name
FlyBase ID
FBal0408409
Feature type
allele
Associated gene
Hsap\CC2D1A
Associated Insertion(s)
Carried in Construct
M{lgd-HA-hCC2D1A.MR}
Key Links
Transgenic product class
frameshift_variant
(Baeumers et al., 2022)
Mutagen
Nature of the Allele
Transgenic product class
frameshift_variant
(Baeumers et al., 2022)
Mutagen
in vitro construct
(Baeumers et al., 2022)
Progenitor genotype
Carried in construct
M{lgd-HA-hCC2D1A.MR}
Cytology
Description

A mutated Hsap\CC2D1A coding sequence that contains a pathogenic variant associated with a form of non-syndromic mental retardation in humans (a frameshift after the third DM14 domain), is expressed under the control of l(2)gd1 regulatory sequences (548bp from upstream of the translational start site and 553bp from downstream of the translational stop site are present). The frameshift results in the expressed protein containing the first 408 residues of Hsap\CC2D1A (this includes 3 of the four DM14 domains) fused to a 30 residue C-terminal nonsense peptide. The coding sequence is tagged at the N-terminal end with Tag:HA.

(Baeumers et al., 2022)
Allele components
Component
Use(s)
Regulatory region(s)
l(2)gd1
Encoded product / tool
Hsap\CC2D1A
Tagged with
Tag:HA
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.
      (Baeumers et al., 2022)
      CC2D1A:p.Gly408fsTer19
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      G408fsX437
      CC2D1A, IVS13-16DEL
      Associated human disease model(s)
      External database links
      ClinVar: 1354
      Comments concerning this variant

      3,590bp deletion that encompasses exons 14-16; results in frameshift and premature termination.

      (FlyBase curators, 2019-)
      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
      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
      Hsap\CC2D1AMR.l(2)gd1.Tag:HA
      Name Synonyms
      Secondary FlyBase IDs
        References (2)