Incidental Mutation 'R7568:Nfkbia'
ID 585597
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 045630-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7568 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 55536195-55539432 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55538546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 82 (I82T)
Ref Sequence ENSEMBL: ENSMUSP00000021413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021413]
AlphaFold Q9Z1E3
Predicted Effect probably damaging
Transcript: ENSMUST00000021413
AA Change: I82T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021413
Gene: ENSMUSG00000021025
AA Change: I82T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 T A 13: 111,391,956 (GRCm39) V97E possibly damaging Het
Actl7a A T 4: 56,744,498 (GRCm39) T342S probably damaging Het
Alcam A G 16: 52,088,749 (GRCm39) S554P probably damaging Het
Ano3 T C 2: 110,780,638 (GRCm39) probably benign Het
Atad2b T A 12: 5,060,390 (GRCm39) probably null Het
Baz2a T C 10: 127,961,139 (GRCm39) S1621P possibly damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 GGTTCTGTGGTCACT GGTTCTGTGGTCACTAGTTCTGTGGTCACT 3: 95,795,484 (GRCm39) probably benign Het
BC028528 GTCACTGGTTCTGTGGTCACTGGTTCTGTG GTCACTGGTTCTGTGATCACTGGTTCTGTGGTCACTGGTTCTGTG 3: 95,795,463 (GRCm39) probably benign Het
Best1 T A 19: 9,966,639 (GRCm39) probably null Het
Catip G T 1: 74,408,089 (GRCm39) E474* probably null Het
Comp A G 8: 70,826,509 (GRCm39) D28G probably benign Het
Crebbp G A 16: 3,944,353 (GRCm39) R600W probably benign Het
Cyfip1 A G 7: 55,521,997 (GRCm39) probably null Het
Ddr1 A G 17: 35,995,174 (GRCm39) S675P probably damaging Het
Dhtkd1 A T 2: 5,926,898 (GRCm39) probably null Het
F2rl1 G A 13: 95,650,522 (GRCm39) A120V probably damaging Het
Fam136a A G 6: 86,342,784 (GRCm39) N24D probably benign Het
Fbxw10 C A 11: 62,765,994 (GRCm39) Q755K probably benign Het
Fbxw16 C A 9: 109,268,657 (GRCm39) Q244H possibly damaging Het
Gabrg2 T C 11: 41,807,119 (GRCm39) K373E probably benign Het
Herc3 G A 6: 58,820,795 (GRCm39) V60I probably benign Het
Igkv19-93 T A 6: 68,713,477 (GRCm39) K51* probably null Het
Krt23 T A 11: 99,383,626 (GRCm39) K89* probably null Het
Mavs A G 2: 131,087,395 (GRCm39) T298A probably benign Het
Mlec T C 5: 115,288,181 (GRCm39) Y198C probably damaging Het
Ncam2 C A 16: 81,386,689 (GRCm39) N689K probably benign Het
Or12d14-ps1 A G 17: 37,673,496 (GRCm39) I163V probably benign Het
Or12j2 A G 7: 139,915,895 (GRCm39) N40S probably damaging Het
Or7a35 A T 10: 78,853,341 (GRCm39) I62F probably benign Het
Or8b43 A G 9: 38,360,942 (GRCm39) Y258C probably damaging Het
Pom121l2 A T 13: 22,166,796 (GRCm39) I356F probably benign Het
Ppip5k1 A T 2: 121,168,096 (GRCm39) L719Q probably damaging Het
Satb1 A T 17: 52,089,752 (GRCm39) V365D possibly damaging Het
Scrn2 T C 11: 96,921,712 (GRCm39) Y61H probably damaging Het
Siglec1 C T 2: 130,914,602 (GRCm39) V1505M probably damaging Het
Slc2a10 A G 2: 165,356,802 (GRCm39) N154S probably damaging Het
Slc39a10 A T 1: 46,874,290 (GRCm39) H337Q probably benign Het
Slc39a12 T A 2: 14,404,939 (GRCm39) probably null Het
Slc6a6 T G 6: 91,701,832 (GRCm39) L80R probably damaging Het
Slit1 T C 19: 41,590,074 (GRCm39) Y1404C probably damaging Het
Sowahc A G 10: 59,059,121 (GRCm39) E419G probably damaging Het
Ssh1 T C 5: 114,095,441 (GRCm39) probably null Het
Stab1 C A 14: 30,874,552 (GRCm39) C952F probably damaging Het
Stat5a T C 11: 100,765,850 (GRCm39) M312T possibly damaging Het
Tex2 A G 11: 106,439,562 (GRCm39) I606T unknown Het
Tex55 T C 16: 38,648,809 (GRCm39) E100G possibly damaging Het
Vmn1r19 A G 6: 57,381,813 (GRCm39) H122R possibly damaging Het
Zfp959 A G 17: 56,204,886 (GRCm39) I308V probably benign 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
R5821:Nfkbia UTSW 12 55,538,005 (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'- GCTGATTTGAATGCAAAAGGCC -3'
(R):5'- TCAGCTCATAATAACCTCGCGG -3'

Sequencing Primer
(F):5'- ATTAATTTAGAAACGCTTTGGGGGC -3'
(R):5'- AGAAACCCCGGCCTTGCGCAATCC -3'
Posted On 2019-10-17