Allele/Variant

Siglecgm2Btlr

Species
Mus musculus
Symbol
Siglecgm2Btlr
Category
allele
Allele of gene
Siglecg
Transgenic Constructs
None
Synonyms
  • shenandoah2
Description
ENU-induced C to A transversion at base pair 43,412,017 (v38) on chromosome 7, or base pair 3,825 in the GenBank genomic region NC_000073. The mutation corresponds to residue 1,588 in the mRNA sequence NM_172900 within exon 9 of 12 total exons. The mutation results in an asparagine to lysine substitution at position 481 (N481K) in the Siglec-G protein.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

NC_000073.7:g.43061441C>A

Symbol
NC_000073.7:g.43061441C>A
Category
Variant
Variant type
point mutation
Overlaps
Siglecg
Location
7:43061441
Nucleotide Change
C>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000073.7:g.43061441C>A
  • 7:g.43061441C>A
HGVS.c name
  • ENSEMBL:ENSMUST00000005592.1:c.1443C>A
  • RefSeq:NM_001382486.1:c.1395C>A
HGVS.p name
  • ENSEMBL:ENSMUSP00000005592:p.Asn481Lys
  • RefSeq:NP_001369415.1:p.Asn465Lys
Synonyms
Not Available
Notes
Not Available
Cross references
MGI:6200066
References
All alleles with this variant

Genome location
Assembly version
GRCm39
Viewer Help
43.058M43.059M43.060M43.061M43.062M43.063M43.064M43.065M43.066M43.067M
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_000073.7:g.43061441C>A

Variant
NC_000073.7:g.43061441C>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
    decreased CD8-positive, alpha-beta memory T cell number
    MGI
    increased B-1 B cell number
    MGI
    increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number
    MGI
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    Disease Associations

    No data available