Allele/Variant

Vav1M3Btlr

Species
Mus musculus
Symbol
Vav1M3Btlr
Category
allele
Allele of gene
Vav1
Transgenic Constructs
None
Synonyms
  • Belated
Description
ENU-induced A to T transversion at base pair 57,301,214 (v38) on chromosome 17, or base pair 22,136 in the GenBank genomic region NC_000083. The mutation corresponds to residue 1,059 in the mRNA sequence NM_011691 within exon 10 of 27 total exons. The mutation results in a threonine to serine substitution at amino acid 321 (R321S) in the VAV1 protein.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

NC_000083.7:g.57608214A>T

Symbol
NC_000083.7:g.57608214A>T
Category
Variant
Variant type
point mutation
Overlaps
Vav1
Location
17:57608214
Nucleotide Change
A>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • 17:g.57608214A>T
  • NC_000083.7:g.57608214A>T
HGVS.c name
  • ENSEMBL:ENSMUST00000005889.1:c.961A>T
  • ENSEMBL:ENSMUST00000112870.1:c.961A>T
HGVS.p name
  • ENSEMBL:ENSMUSP00000005889:p.Thr321Ser
  • ENSEMBL:ENSMUSP00000108491:p.Thr321Ser
Synonyms
Not Available
Notes
Not Available
Cross references
MGI:6285507
References
All alleles with this variant

Genome location
Assembly version
GRCm39
Viewer Help
Data currently unavailable; sequence viewer under construction

Variant Molecular Consequences

Predicted effect of NC_000083.7:g.57608214A>T

Variant
NC_000083.7:g.57608214A>T
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 IgG level
    MGI
    impaired humoral immune response
    MGI
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    Disease Associations

    No data available