Allele/Variant

Gckm2Btlr

Species
Mus musculus
Symbol
Gckm2Btlr
Category
allele
Allele of gene
Gck
Transgenic Constructs
None
Synonyms
  • tootsie
Description
ENU-induced T to A transversion at base pair 5,909,150 (v38) on chromosome 11, or base pair 40,932 in the GenBank genomic region NC_000077 encoding Gck. The mutation corresponds to residue 898 in the mRNA sequence NM_010292.5 (c.898T>A) within exon 4 of 10 total exons. The mutation results in a methionine to lysine substitution at amino acid 139 (p.M139K) in the GCK protein.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

NC_000077.7:g.5859150A>T

Symbol
NC_000077.7:g.5859150A>T
Category
Variant
Variant type
point mutation
Overlaps
Gck
Location
11:5859150
Nucleotide Change
A>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • 11:g.5859150A>T
  • (GRCm39)11:5859150A>T
HGVS.c name
  • ENSEMBL:ENSMUST00000102920.1:c.416T>A
  • ENSEMBL:ENSMUST00000109822.1:c.416T>A
HGVS.p name
  • ENSEMBL:ENSMUSP00000099984:p.Met139Lys
  • ENSEMBL:ENSMUSP00000105447:p.Met139Lys
Synonyms
Not Available
Notes
Not Available
Cross references
MGI:6197913
References
All alleles with this variant

Genome location
Assembly version
GRCm39
Viewer Help
5.855M5.860M5.865M5.870M5.875M5.880M5.885M5.890M5.895M5.900M
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.5859150A>T

Variant
NC_000077.7:g.5859150A>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
    impaired glucose tolerance
    MGI
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    Disease Associations

    No data available