Allele/Variant

Dock2M12Btlr

Species
Mus musculus
Symbol
Dock2M12Btlr
Category
allele
Allele of gene
Dock2
Transgenic Constructs
None
Synonyms
  • Slip
Description
ENU-induced A to G transition at base pair 34,294,286 (v38) on chromosome 11, or base pair 489,624 in the GenBank genomic region NC_000077 for Dock2. The mutation corresponds to residue 3,225 in the mRNA sequence NM_178666 within exon 31 of 52 total exons. The mutation results in a histidine to arginine substitution at position 1,048 (H1048R) in the DOCK2 protein.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

NC_000077.7:g.34244286T>C

Symbol
NC_000077.7:g.34244286T>C
Category
Variant
Variant type
point mutation
Overlaps
Dock2
Location
11:34244286
Nucleotide Change
T>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • 11:g.34244286T>C
  • (GRCm39)11:34244286T>C
HGVS.c name
  • ENSEMBL:ENSMUST00000093193.1:c.3143A>G
  • ENSEMBL:ENSMUST00000101365.1:c.3143A>G
HGVS.p name
  • ENSEMBL:ENSMUSP00000090884:p.His1048Arg
  • ENSEMBL:ENSMUSP00000098916:p.His1048Arg
Synonyms
Not Available
Notes
Not Available
Cross references
Not Available
References
All alleles with this variant

Genome location
Assembly version
GRCm39
Viewer Help
34.20M34.25M34.30M34.35M34.40M34.45M34.50M34.55M34.60M34.65M
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_000077.7:g.34244286T>C

Variant
NC_000077.7:g.34244286T>C
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
    decreased B-1a cell number
    MGI
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    Disease Associations