Allele/Variant

Ccdc39b2b2025.1Clo

Species
Mus musculus
Symbol
Ccdc39b2b2025.1Clo
Category
allele
Allele of gene
Ccdc39
Transgenic Constructs
None
Synonyms
None
Description
This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b2025Clo. The molecular lesion for this subline is attributed to a G-to-T substitution at coding nucleotide position 445 (c.445G>T) in exon 4 of the cDNA (c.445G>T). This changes the glutamic acid residue to a stop at position 149 of the expressed protein (p.E149*).
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

NC_000069.7:g.33892026C>A

Symbol
NC_000069.7:g.33892026C>A
Category
Variant
Variant type
point mutation
Overlaps
Ccdc39
Location
3:33892026
Nucleotide Change
C>A
Most Severe Consequence
  • stop gained
See all consequences
HGVS.g name
  • NC_000069.7:g.33892026C>A
  • 3:g.33892026C>A
HGVS.c name
  • ENSEMBL:ENSMUST00000029222.1:c.445G>T
  • RefSeq:NM_026222.3:c.445G>T
HGVS.p name
  • ENSEMBL:ENSMUSP00000029222:p.Glu149Ter
  • RefSeq:NP_080498.1:p.Glu149Ter
Synonyms
Not Available
Notes
Not Available
Cross references
MGI:5554444
References
All alleles with this variant

Genome location
Assembly version
GRCm39
Viewer Help
33.870M33.875M33.880M33.885M33.890M33.895M
Variant Types and ConsequencesOnly variants associated to alleles are shown in the graphics above. See all variants in JBrowse.

Variant Molecular Consequences

Predicted effect of NC_000069.7:g.33892026C>A

Variant
NC_000069.7:g.33892026C>A
Variant type:
point_mutation
Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
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    Phenotypes

    Phenotype
    Annotation details
    Source
    References
    abnormal aortic arch morphologyMGI
    abnormal inferior vena cava morphologyMGI
    abnormal liver morphologyMGI
    absent spleenMGI
    atrioventricular septal defectMGI
    dextrocardiaMGI
    double outlet right ventricleMGI
    double outlet right ventricle with atrioventricular septal defectMGI
    double outlet right ventricle, Taussig bing typeMGI
    dual inferior vena cavaMGI
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
    Source
    References
    is implicated inprimary ciliary dyskinesia 14
    • TAS
    is implicated invisceral heterotaxy
    • TAS
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