Incidental Mutation 'IGL02636:Nfkbia'
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ID301526
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfkbia
Ensembl Gene ENSMUSG00000021025
Gene Namenuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha
SynonymsI-kappaBalpha, I(Kappa)B(alpha), Nfkbi, IkappaBalpha
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02636
Quality Score
Status
Chromosome12
Chromosomal Location55489410-55492647 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55491173 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 165 (Q165R)
Ref Sequence ENSEMBL: ENSMUSP00000021413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021413]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021413
AA Change: Q165R

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021413
Gene: ENSMUSG00000021025
AA Change: Q165R

DomainStartEndE-ValueType
ANK 73 103 1.39e3 SMART
ANK 110 139 5.93e-3 SMART
ANK 143 172 3.04e0 SMART
ANK 182 211 4.39e-6 SMART
ANK 216 245 9.41e-6 SMART
low complexity region 282 299 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219869
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 C A 6: 85,628,654 Q1960K probably benign Het
Arhgef40 T A 14: 51,997,408 V1056E probably damaging Het
Cdh26 T A 2: 178,449,962 F105I probably damaging Het
Cep162 A T 9: 87,248,379 D59E possibly damaging Het
Cngb3 A T 4: 19,396,690 T348S probably damaging Het
Eci3 A T 13: 34,946,980 probably null Het
Gapvd1 A G 2: 34,725,404 I409T probably benign Het
Golga2 T C 2: 32,296,723 probably null Het
Hoxd3 G A 2: 74,746,954 A393T probably benign Het
Htr5a T C 5: 27,842,660 F71S probably damaging Het
Hyou1 T C 9: 44,381,410 probably null Het
Igsf6 C A 7: 121,067,280 probably benign Het
Klrb1c C A 6: 128,788,552 C25F probably benign Het
Lrguk C A 6: 34,090,188 T483K probably damaging Het
Lrpprc A T 17: 84,753,104 probably benign Het
Lrrk1 A T 7: 66,308,659 probably null Het
Megf8 G A 7: 25,358,432 G2098D probably damaging Het
Nipsnap2 A G 5: 129,745,290 probably benign Het
Phykpl C T 11: 51,598,713 T382I probably damaging Het
Prdm10 A G 9: 31,329,681 D206G possibly damaging Het
Rab26 T C 17: 24,533,559 S9G probably benign Het
Sema3e C A 5: 14,225,656 N258K probably benign Het
Slfn10-ps T A 11: 83,030,145 noncoding transcript Het
Tgm5 A T 2: 121,076,796 C149S probably damaging Het
Timp4 C T 6: 115,249,824 probably null Het
Traf7 T C 17: 24,512,990 K251E probably benign Het
Ugcg G T 4: 59,207,763 R34L possibly damaging Het
Unc13d T C 11: 116,073,618 H300R probably damaging Het
Vmn1r20 G T 6: 57,431,761 C24F probably benign Het
Vmn2r13 T C 5: 109,192,017 R31G probably damaging Het
Vsig10l A G 7: 43,463,578 T87A possibly damaging Het
Zfp353-ps T A 8: 42,082,440 noncoding transcript Het
Other mutations in Nfkbia
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01019:Nfkbia APN 12 55490542 missense probably damaging 1.00
IGL01517:Nfkbia APN 12 55490645 missense probably damaging 0.99
R0836:Nfkbia UTSW 12 55490776 missense probably damaging 1.00
R2031:Nfkbia UTSW 12 55491152 missense probably damaging 1.00
R2393:Nfkbia UTSW 12 55490670 splice site probably benign
R5821:Nfkbia UTSW 12 55491220 missense probably damaging 1.00
R7568:Nfkbia UTSW 12 55491761 missense probably damaging 1.00
X0061:Nfkbia UTSW 12 55490587 missense possibly damaging 0.81
Posted On2015-04-16