Incidental Mutation 'IGL01019:Nfkbia'
ID 53914
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01019
Quality Score
Status
Chromosome 12
Chromosomal Location 55536195-55539432 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55537327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 254 (Y254F)
Ref Sequence ENSEMBL: ENSMUSP00000021413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021413]
AlphaFold Q9Z1E3
Predicted Effect probably damaging
Transcript: ENSMUST00000021413
AA Change: Y254F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000021413
Gene: ENSMUSG00000021025
AA Change: Y254F

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930022D16Rik T C 11: 109,308,737 (GRCm39) probably benign Het
Aatk T C 11: 119,903,101 (GRCm39) S375G probably benign Het
Abcg8 T C 17: 84,999,423 (GRCm39) M173T probably benign Het
B3galt2 A C 1: 143,522,495 (GRCm39) R210S probably benign Het
Bltp1 G T 3: 37,061,133 (GRCm39) probably null Het
Capn5 C T 7: 97,784,971 (GRCm39) A168T probably damaging Het
Cbx7 C T 15: 79,814,829 (GRCm39) G24D probably damaging Het
Ccdc7a A T 8: 129,788,099 (GRCm39) S77T probably benign Het
Cd200r2 T A 16: 44,729,832 (GRCm39) probably benign Het
Cdh11 T C 8: 103,406,377 (GRCm39) H32R probably benign Het
Chdh A T 14: 29,753,289 (GRCm39) N66I probably benign Het
Clca3a2 G A 3: 144,519,388 (GRCm39) Q263* probably null Het
Dcc T C 18: 71,942,161 (GRCm39) I319V probably benign Het
Depdc5 G T 5: 33,050,745 (GRCm39) M170I probably damaging Het
Dop1b T A 16: 93,607,117 (GRCm39) L2140Q probably benign Het
Frem3 G A 8: 81,341,763 (GRCm39) G1352E probably benign Het
Fsd1l T A 4: 53,694,742 (GRCm39) C389S probably damaging Het
Grin2c C T 11: 115,148,936 (GRCm39) A221T possibly damaging Het
Gstz1 C A 12: 87,210,575 (GRCm39) P153T probably damaging Het
Itgb2 T C 10: 77,378,237 (GRCm39) S22P possibly damaging Het
Krt87 G T 15: 101,336,312 (GRCm39) Q114K possibly damaging Het
Krtap5-4 A C 7: 141,857,647 (GRCm39) S106R unknown Het
Lats1 T C 10: 7,581,435 (GRCm39) V740A probably damaging Het
Mcm9 C A 10: 53,506,041 (GRCm39) G78C probably damaging Het
Mn1 G A 5: 111,569,413 (GRCm39) E1128K possibly damaging Het
Myo1f G A 17: 33,811,977 (GRCm39) R592H possibly damaging Het
Nfat5 G T 8: 108,094,146 (GRCm39) A277S probably damaging Het
Nr3c2 A T 8: 77,635,843 (GRCm39) N315Y probably damaging Het
Otof T C 5: 30,562,560 (GRCm39) M258V probably benign Het
Panx3 C T 9: 37,572,767 (GRCm39) C261Y probably damaging Het
Pdia2 C A 17: 26,417,896 (GRCm39) G38W probably damaging Het
Psg19 G T 7: 18,527,971 (GRCm39) Y257* probably null Het
Ptpre A T 7: 135,280,054 (GRCm39) K586* probably null Het
Reps1 A G 10: 18,000,643 (GRCm39) R752G probably damaging Het
Rpgrip1 T A 14: 52,368,633 (GRCm39) D277E possibly damaging Het
Rpl21-ps6 A G 17: 56,222,671 (GRCm39) noncoding transcript Het
Serpinf2 T A 11: 75,327,333 (GRCm39) E198V possibly damaging Het
Sh3tc1 A G 5: 35,860,719 (GRCm39) L1046P probably damaging Het
Snw1 T C 12: 87,497,711 (GRCm39) E426G probably benign Het
Sord T A 2: 122,094,564 (GRCm39) N317K probably benign Het
Taar3 A T 10: 23,826,330 (GRCm39) D292V probably damaging Het
Tdrd3 C A 14: 87,709,618 (GRCm39) T94K probably damaging Het
Ttn C A 2: 76,687,165 (GRCm39) E736* probably null Het
Usp32 A G 11: 84,930,091 (GRCm39) V562A probably damaging Het
Vmn1r169 T G 7: 23,276,611 (GRCm39) M1R probably null Het
Vmn2r3 C T 3: 64,167,304 (GRCm39) C609Y probably damaging Het
Vmn2r69 T C 7: 85,055,739 (GRCm39) T800A probably benign Het
Vmn2r72 G A 7: 85,387,542 (GRCm39) T674I probably benign Het
Zfp160 T A 17: 21,241,088 (GRCm39) M52K possibly damaging Het
Zfp607a T A 7: 27,578,042 (GRCm39) C371S probably damaging Het
Other mutations in Nfkbia
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-06-28