Incidental Mutation 'R2031:Nfkbia'
ID 221271
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 040038-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2031 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 55536195-55539432 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55537937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 172 (L172P)
Ref Sequence ENSEMBL: ENSMUSP00000021413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021413]
AlphaFold Q9Z1E3
Predicted Effect probably damaging
Transcript: ENSMUST00000021413
AA Change: L172P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000021413
Gene: ENSMUSG00000021025
AA Change: L172P

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 0.6638 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 98% (55/56)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b G T 5: 121,639,118 (GRCm39) N642K possibly damaging Het
Akap11 T A 14: 78,747,477 (GRCm39) I1637L possibly damaging Het
Aoc1l1 T C 6: 48,952,789 (GRCm39) V238A probably damaging Het
Arhgap28 G T 17: 68,203,111 (GRCm39) T114N probably damaging Het
Arid5b A G 10: 68,114,518 (GRCm39) probably null Het
Atp10a T A 7: 58,477,678 (GRCm39) C1292* probably null Het
Casp4 A G 9: 5,321,401 (GRCm39) S51G probably benign Het
Cast T C 13: 74,946,771 (GRCm39) probably null Het
Ccdc87 T C 19: 4,891,715 (GRCm39) F736L probably damaging Het
Cdon T C 9: 35,415,370 (GRCm39) S1203P probably damaging Het
Cep290 G A 10: 100,348,262 (GRCm39) probably null Het
Cep85 A G 4: 133,859,761 (GRCm39) V634A probably benign Het
Cpeb3 C T 19: 37,022,079 (GRCm39) R589H probably damaging Het
Crebrf T G 17: 26,961,895 (GRCm39) S331A probably damaging Het
Cul5 A G 9: 53,578,480 (GRCm39) V36A probably benign Het
Dock2 T A 11: 34,618,297 (GRCm39) probably benign Het
Dstyk G A 1: 132,380,929 (GRCm39) A475T probably damaging Het
Enpp6 C A 8: 47,506,649 (GRCm39) P151Q probably damaging Het
Fan1 A G 7: 64,004,172 (GRCm39) Y765H probably damaging Het
Hsfy2 A T 1: 56,675,476 (GRCm39) S354T probably benign Het
Ifi204 A C 1: 173,580,343 (GRCm39) F389C probably damaging Het
Ikbip T C 10: 90,932,474 (GRCm39) Y373H probably benign Het
Kbtbd11 C A 8: 15,078,021 (GRCm39) P207T possibly damaging Het
Krt73 A C 15: 101,707,199 (GRCm39) probably benign Het
Mfsd6 T A 1: 52,748,013 (GRCm39) Q284L probably benign Het
Mmp1b T A 9: 7,368,607 (GRCm39) D415V possibly damaging Het
Mrc1 A T 2: 14,326,584 (GRCm39) T1161S probably damaging Het
Ms4a18 A G 19: 10,991,014 (GRCm39) S27P probably benign Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Mycbp2 G T 14: 103,426,028 (GRCm39) R2366S probably damaging Het
Nrros C T 16: 31,962,975 (GRCm39) W311* probably null Het
Or1d2 A G 11: 74,255,777 (GRCm39) Y94C probably damaging Het
Or2ag15 A G 7: 106,341,105 (GRCm39) F12S probably damaging Het
Or4c107 A G 2: 88,789,643 (GRCm39) T278A probably benign Het
Or51f1e A G 7: 102,747,371 (GRCm39) Y141C probably damaging Het
Or5an10 A T 19: 12,275,740 (GRCm39) V252D probably damaging Het
Or5b112 T C 19: 13,319,770 (GRCm39) L216S probably benign Het
Parvb A T 15: 84,167,036 (GRCm39) Y117F probably benign Het
Plch2 A G 4: 155,127,484 (GRCm39) probably benign Het
Plxnb2 A T 15: 89,047,013 (GRCm39) C769* probably null Het
Plxnc1 G T 10: 94,779,529 (GRCm39) D304E probably benign Het
Prkg2 T C 5: 99,172,310 (GRCm39) D135G possibly damaging Het
Ptprb A G 10: 116,153,448 (GRCm39) D635G probably benign Het
Rapgef6 T G 11: 54,443,684 (GRCm39) V89G probably benign Het
Ror2 T A 13: 53,271,366 (GRCm39) T330S probably benign Het
Ros1 A G 10: 51,943,164 (GRCm39) V2050A possibly damaging Het
Serpinb6e T C 13: 34,021,733 (GRCm39) probably benign Het
Skp2 C A 15: 9,113,786 (GRCm39) G376C probably damaging Het
Smarca4 T C 9: 21,597,358 (GRCm39) V1371A possibly damaging Het
Syvn1 G A 19: 6,100,560 (GRCm39) R317H probably damaging Het
Tdo2 T A 3: 81,876,812 (GRCm39) D139V probably damaging Het
Tmem130 A G 5: 144,689,236 (GRCm39) V135A possibly damaging Het
Tpr A T 1: 150,317,870 (GRCm39) Q2126L probably benign Het
Txlnb A G 10: 17,706,062 (GRCm39) M324V possibly damaging Het
Ubxn10 A G 4: 138,448,574 (GRCm39) M34T possibly damaging Het
Vmn2r95 T C 17: 18,659,717 (GRCm39) W154R possibly 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
R2393:Nfkbia UTSW 12 55,537,455 (GRCm39) splice site probably benign
R5821:Nfkbia UTSW 12 55,538,005 (GRCm39) missense probably damaging 1.00
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'- CAACTCATGTCTATTGTCTTGAGGAC -3'
(R):5'- CTTGGCTGTGATCACCAACC -3'

Sequencing Primer
(F):5'- CAGTTTTGAAGAACTCAGAATCTGGG -3'
(R):5'- ACCAGCCAGGAATTGCTG -3'
Posted On 2014-08-25