Allele/Variant

Ptpn6m4Btlr

Species
Mus musculus
Symbol
Ptpn6m4Btlr
Category
allele
Allele of gene
Ptpn6
Transgenic Constructs
None
Synonyms
  • farfalla_norttuna
Description
ENU-induced A to G transition at base pair 124,732,435 (v38) on chromosome 6, or base pair 6,275 in the GenBank genomic region NC_000072. The mutation corresponds to residue 392 in the mRNA sequence NM_013545 within exon 3 of 16 total exons. The mutation results in a tyrosine to cysteine substitution at position 64 (Y64C) in variant 1 of the SHP1 protein.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

NC_000072.7:g.124709398T>C

Symbol
NC_000072.7:g.124709398T>C
Category
Variant
Variant type
point mutation
Overlaps
Ptpn6
Location
6:124709398
Nucleotide Change
T>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • 6:g.124709398T>C
  • NC_000072.7:g.124709398T>C
HGVS.c name
  • ENSEMBL:ENSMUST00000004377.1:c.197A>G
  • ENSEMBL:ENSMUST00000112484.1:c.191A>G
HGVS.p name
  • ENSEMBL:ENSMUSP00000004377:p.Tyr66Cys
  • ENSEMBL:ENSMUSP00000108103:p.Tyr64Cys
Synonyms
Not Available
Notes
Not Available
Cross references
Not Available
References
Not Available
All alleles with this variant

Genome location
Assembly version
GRCm39
Viewer Help
124.698M124.700M124.702M124.704M124.706M124.708M124.710M124.712M124.714M
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_000072.7:g.124709398T>C

Variant
NC_000072.7:g.124709398T>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 CD4-positive, CD25-positive, alpha-beta regulatory T cell number
    MGI
    decreased CD8-positive, naive alpha-beta T cell number
    MGI
    increased B-1 B cell number
    MGI
    increased CD8-positive, alpha-beta memory T cell number
    MGI
    increased central memory CD8 positive, alpha-beta T cell number
    MGI
    increased effector memory CD4-positive, alpha-beta T cell number
    MGI
    increased effector memory CD8-positive, alpha-beta T cell number
    MGI
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    Disease Associations

    No data available