Allele/Variant

IkbkbM2Btlr

Species
Mus musculus
Symbol
IkbkbM2Btlr
Category
allele
Allele of gene
Ikbkb
Transgenic Constructs
None
Synonyms
  • Baby
Description
ENU-induced A to C transversion at base pair 22,675,036 (v38) on chromosome 8, or base pair 31,556 in the GenBank genomic region NC_000074. The mutation corresponds to residue 859 in the mRNA sequence NM_001159774 (variant 1) within exon 9 of 22 total exons. The mutation results in an isoleucine to leucine substitution at position 243 (I243L) in both isoforms of the inhibitor of kappa-B kinase- (IKK-; alternatively, IKK-2) protein.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

NC_000074.7:g.23165052T>G

Symbol
NC_000074.7:g.23165052T>G
Category
Variant
Variant type
point mutation
Overlaps
Ikbkb
Location
8:23165052
Nucleotide Change
T>G
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCm39)8:23165052T>G
  • 8:g.23165052T>G
HGVS.c name
  • ENSEMBL:ENSMUST00000033939.1:c.727A>C
  • ENSEMBL:ENSMUST00000063401.1:c.727A>C
HGVS.p name
  • ENSEMBL:ENSMUSP00000033939:p.Ile243Leu
Synonyms
Not Available
Notes
Not Available
Cross references
MGI:6304916
References
All alleles with this variant

Genome location
Assembly version
GRCm39
Viewer Help
23.150M23.155M23.160M23.165M23.170M23.175M23.180M23.185M23.190M23.195M
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_000074.7:g.23165052T>G

Variant
NC_000074.7:g.23165052T>G
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 central memory CD4-positive, alpha-beta T cell number
    MGI
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    Disease Associations

    No data available