|Institutional Source||Beutler Lab|
|Gene Name||nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha|
|Synonyms||I-kappaBalpha, I(Kappa)B(alpha), Nfkbi, IkappaBalpha|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2031 (G1)|
|Chromosomal Location||55489410-55492647 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 55491152 bp|
|Amino Acid Change||Leucine to Proline at position 172 (L172P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021413 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021413]|
|Predicted Effect||probably damaging
AA Change: L172P
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: L172P
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.6638|
|Coding Region Coverage||
|Validation Efficiency||98% (55/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene die at about 1 week of age experiencing abnormalities in the immune system. Mice homozygous for an allele disrupting the N-terminal nuclear export signal exhibit impaired B cell maturation, decreased CD4+ memory T cells, and decreased regulatory T cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nfkbia||
(F):5'- CAACTCATGTCTATTGTCTTGAGGAC -3'
(R):5'- CTTGGCTGTGATCACCAACC -3'
(F):5'- CAGTTTTGAAGAACTCAGAATCTGGG -3'
(R):5'- ACCAGCCAGGAATTGCTG -3'