Incidental Mutation 'R5821:Nfkbia'
ID 449947
Institutional Source Beutler Lab
Gene Symbol Nfkbia
Ensembl Gene ENSMUSG00000021025
Gene Name nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha
Synonyms Nfkbi, I(Kappa)B(alpha), I-kappaBalpha, IkappaBalpha
MMRRC Submission 043401-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5821 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 55536195-55539432 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55538005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 149 (H149Q)
Ref Sequence ENSEMBL: ENSMUSP00000021413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021413]
AlphaFold Q9Z1E3
Predicted Effect probably damaging
Transcript: ENSMUST00000021413
AA Change: H149Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021413
Gene: ENSMUSG00000021025
AA Change: H149Q

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency 100% (55/55)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,686,458 (GRCm39) V278D possibly damaging Het
Acacb A G 5: 114,322,167 (GRCm39) D227G possibly damaging Het
Akap9 A G 5: 4,096,064 (GRCm39) E2313G probably benign Het
Cchcr1 A T 17: 35,839,745 (GRCm39) E564D probably damaging Het
Cers2 G A 3: 95,229,008 (GRCm39) probably benign Het
Cfap161 A G 7: 83,425,188 (GRCm39) I301T probably benign Het
Ciita A T 16: 10,329,669 (GRCm39) E648V possibly damaging Het
Cir1 C T 2: 73,142,804 (GRCm39) C10Y probably damaging Het
Clasp1 T A 1: 118,518,214 (GRCm39) F1087I probably damaging Het
Cped1 C A 6: 22,138,681 (GRCm39) F415L probably benign Het
Dnah7b A G 1: 46,181,292 (GRCm39) T1060A possibly damaging Het
Epha5 G T 5: 84,232,587 (GRCm39) P809H probably damaging Het
Fuca1 T A 4: 135,650,273 (GRCm39) probably null Het
Galnt2l A T 8: 123,627,372 (GRCm39) *98R probably null Het
Gm26796 G A 12: 80,805,564 (GRCm39) R237C unknown Het
Idua A G 5: 108,827,600 (GRCm39) Y138C probably benign Het
Ighd A T 12: 113,373,253 (GRCm39) L240H probably benign Het
Ing2 C G 8: 48,121,861 (GRCm39) C229S probably benign Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kctd8 A T 5: 69,267,828 (GRCm39) N427K probably benign Het
Kif16b T C 2: 142,544,586 (GRCm39) E1147G probably damaging Het
Kif18a G A 2: 109,120,190 (GRCm39) probably benign Het
Krt82 T A 15: 101,456,820 (GRCm39) R187* probably null Het
Lrrk2 T C 15: 91,593,593 (GRCm39) probably null Het
M1ap T C 6: 82,945,083 (GRCm39) Y126H probably benign Het
Mmel1 A G 4: 154,970,044 (GRCm39) N226D possibly damaging Het
Mtmr11 A G 3: 96,075,185 (GRCm39) D353G possibly damaging Het
Nr5a1 A T 2: 38,598,511 (GRCm39) F95L probably damaging Het
Nutm2 A G 13: 50,623,891 (GRCm39) Y196C probably benign Het
Oxtr A G 6: 112,466,457 (GRCm39) I101T probably damaging Het
Pcsk2 T A 2: 143,591,035 (GRCm39) probably null Het
Pde5a T C 3: 122,611,604 (GRCm39) I514T probably benign Het
Pign A G 1: 105,516,788 (GRCm39) W585R possibly damaging Het
Pomgnt1 A G 4: 116,012,933 (GRCm39) S407G probably benign Het
Ppfia3 G A 7: 45,003,040 (GRCm39) T372I probably damaging Het
Prrc2b A T 2: 32,102,144 (GRCm39) E739V probably damaging Het
Ro60 A G 1: 143,642,503 (GRCm39) V209A probably benign Het
Scn7a T C 2: 66,574,047 (GRCm39) E192G probably damaging Het
Slmap T C 14: 26,183,435 (GRCm39) D316G probably damaging Het
Smim8 GGTTTAATGAAGAG GG 4: 34,771,259 (GRCm39) probably benign Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 (GRCm39) probably benign Het
Tgm2 T A 2: 157,984,974 (GRCm39) Y44F possibly damaging Het
Tmc8 C A 11: 117,683,455 (GRCm39) S670* probably null Het
Tmem145 A G 7: 25,014,946 (GRCm39) D523G probably benign Het
Vmn2r115 G A 17: 23,566,937 (GRCm39) G483E probably damaging Het
Other mutations in Nfkbia
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01019:Nfkbia APN 12 55,537,327 (GRCm39) missense probably damaging 1.00
IGL01517:Nfkbia APN 12 55,537,430 (GRCm39) missense probably damaging 0.99
IGL02636:Nfkbia APN 12 55,537,958 (GRCm39) missense possibly damaging 0.48
Fulfilling UTSW 12 55,537,455 (GRCm39) splice site probably benign
Promising UTSW 12 55,539,083 (GRCm39) critical splice donor site probably benign
R0836:Nfkbia UTSW 12 55,537,561 (GRCm39) missense probably damaging 1.00
R2031:Nfkbia UTSW 12 55,537,937 (GRCm39) missense probably damaging 1.00
R2393:Nfkbia UTSW 12 55,537,455 (GRCm39) splice site probably benign
R7568:Nfkbia UTSW 12 55,538,546 (GRCm39) missense probably damaging 1.00
R8235:Nfkbia UTSW 12 55,537,608 (GRCm39) missense probably damaging 1.00
R8799:Nfkbia UTSW 12 55,539,083 (GRCm39) critical splice donor site probably benign
R8843:Nfkbia UTSW 12 55,539,196 (GRCm39) missense possibly damaging 0.92
R8921:Nfkbia UTSW 12 55,537,340 (GRCm39) missense probably damaging 1.00
R9188:Nfkbia UTSW 12 55,537,258 (GRCm39) missense probably damaging 1.00
X0061:Nfkbia UTSW 12 55,537,372 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- CACAGTGTCTGAACTTTGTATACG -3'
(R):5'- ATTCCATAGCGGGAGGTGTCTG -3'

Sequencing Primer
(F):5'- CTGAACTTTGTATACGTTCGGAG -3'
(R):5'- GTCTGGGGTTCAGGAAACTC -3'
Posted On 2016-12-20