Incidental Mutation 'IGL01517:Nfkbia'
ID90424
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 #IGL01517
Quality Score
Status
Chromosome12
Chromosomal Location55489410-55492647 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 55490645 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 220 (A220T)
Ref Sequence ENSEMBL: ENSMUSP00000021413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021413]
Predicted Effect probably damaging
Transcript: ENSMUST00000021413
AA Change: A220T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021413
Gene: ENSMUSG00000021025
AA Change: A220T

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 A T 13: 104,390,192 probably benign Het
Arpc1b A G 5: 145,127,869 probably benign Het
Ccdc54 G A 16: 50,589,917 L329F possibly damaging Het
Cdc42bpg G A 19: 6,318,437 R1055H probably damaging Het
Cylc1 A G X: 111,119,030 T29A possibly damaging Het
Ddx50 T C 10: 62,647,132 T53A probably benign Het
Dmap1 G A 4: 117,676,009 R283C probably damaging Het
Extl3 A T 14: 65,076,707 L342H probably damaging Het
Gjb3 A C 4: 127,326,121 I206S probably damaging Het
Gphn T A 12: 78,376,374 I53K probably damaging Het
Gpr22 C T 12: 31,708,710 probably benign Het
Inpp5b T A 4: 124,782,436 C362S probably benign Het
Iqgap3 C A 3: 88,109,396 Q1062K probably benign Het
Kdm2a A G 19: 4,362,061 probably benign Het
Ltbp3 A G 19: 5,757,732 D1167G possibly damaging Het
Mpo A G 11: 87,795,821 N65D possibly damaging Het
Mrpl2 A G 17: 46,649,983 R268G probably damaging Het
Nlrc3 T A 16: 3,947,487 I1091F probably damaging Het
Notch2 T A 3: 98,138,655 S1674R probably benign Het
Olfr298 T C 7: 86,489,557 probably benign Het
Olfr63 T A 17: 33,269,655 N310K probably benign Het
Pde8b A G 13: 95,100,887 probably null Het
Pla2r1 A G 2: 60,504,253 Y392H probably damaging Het
Plekhm1 A T 11: 103,394,783 N275K possibly damaging Het
Prdm16 T C 4: 154,328,425 H1041R probably damaging Het
Rapsn C A 2: 91,036,618 N88K probably damaging Het
Rasef T A 4: 73,769,822 Q31H probably benign Het
Rpl28-ps4 T C 6: 117,213,852 noncoding transcript Het
Trpc7 T C 13: 56,861,065 Y263C probably damaging Het
Ttn T C 2: 76,747,596 T24318A probably damaging Het
Vmn1r35 T C 6: 66,679,450 T79A probably benign Het
Vmn2r100 T A 17: 19,521,963 S200T probably benign Het
Wnt9b A G 11: 103,731,081 V250A probably benign Het
Zyg11a T A 4: 108,201,194 K383M probably null Het
Other mutations in Nfkbia
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01019:Nfkbia APN 12 55490542 missense probably damaging 1.00
IGL02636:Nfkbia APN 12 55491173 missense possibly damaging 0.48
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 On2013-12-09