Incidental Mutation 'IGL01331:Nfkbie'
ID 74522
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfkbie
Ensembl Gene ENSMUSG00000023947
Gene Name nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, epsilon
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.399) question?
Stock # IGL01331
Quality Score
Status
Chromosome 17
Chromosomal Location 45866629-45874095 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45869495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 150 (V150A)
Ref Sequence ENSEMBL: ENSMUSP00000024742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024742]
AlphaFold O54910
Predicted Effect probably benign
Transcript: ENSMUST00000024742
AA Change: V150A

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000024742
Gene: ENSMUSG00000023947
AA Change: V150A

DomainStartEndE-ValueType
low complexity region 36 48 N/A INTRINSIC
low complexity region 93 110 N/A INTRINSIC
ANK 122 152 1.14e2 SMART
ANK 157 187 2.15e0 SMART
ANK 190 219 6.81e-3 SMART
ANK 233 262 5.09e-2 SMART
ANK 267 296 1.12e-3 SMART
ANK 300 329 1e0 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds to components of NF-kappa-B, trapping the complex in the cytoplasm and preventing it from activating genes in the nucleus. Phosphorylation of the encoded protein targets it for destruction by the ubiquitin pathway, which activates NF-kappa-B by making it available to translocate to the nucleus. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for disruptions of this gene display an essentially normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clca3a1 G A 3: 144,453,273 (GRCm39) T517M probably damaging Het
Clec4g T C 8: 3,767,190 (GRCm39) probably benign Het
Cmya5 C T 13: 93,233,454 (GRCm39) E545K possibly damaging Het
Cntn6 A T 6: 104,751,484 (GRCm39) D380V probably damaging Het
Col9a2 C T 4: 120,902,389 (GRCm39) P209S possibly damaging Het
Cyp2b9 T C 7: 25,887,140 (GRCm39) V183A probably damaging Het
Dpt T C 1: 164,624,379 (GRCm39) Y27H unknown Het
Dusp16 T C 6: 134,695,067 (GRCm39) Q588R possibly damaging Het
Emg1 A G 6: 124,682,033 (GRCm39) S164P probably benign Het
Foxk1 G A 5: 142,439,344 (GRCm39) R428Q probably damaging Het
Frmd4a T A 2: 4,607,036 (GRCm39) M667K probably benign Het
Gpr55 T A 1: 85,868,915 (GRCm39) probably benign Het
Gtpbp8 A G 16: 44,560,494 (GRCm39) I162T probably benign Het
Ighv1-59 C T 12: 115,298,992 (GRCm39) V21I possibly damaging Het
Ipo11 T A 13: 106,932,254 (GRCm39) Y938F possibly damaging Het
Map4 G T 9: 109,863,869 (GRCm39) V365L probably benign Het
Mboat1 C A 13: 30,403,684 (GRCm39) probably benign Het
Med12 A G X: 100,324,360 (GRCm39) E649G possibly damaging Het
Or51ai2 A G 7: 103,586,782 (GRCm39) Y65C possibly damaging Het
Or8k22 A C 2: 86,163,048 (GRCm39) Y217* probably null Het
Prdm1 T A 10: 44,317,970 (GRCm39) K299N possibly damaging Het
Ribc1 T C X: 150,788,102 (GRCm39) T291A probably benign Het
Rps6kc1 G T 1: 190,532,549 (GRCm39) N484K possibly damaging Het
Serpina3k C A 12: 104,309,369 (GRCm39) A271D probably benign Het
Spata18 G T 5: 73,827,024 (GRCm39) R321L probably damaging Het
Styxl2 C A 1: 165,935,749 (GRCm39) V150L probably damaging Het
Syne2 C A 12: 75,976,027 (GRCm39) probably benign Het
Syt17 T A 7: 118,007,389 (GRCm39) I302F probably damaging Het
Tgm6 A G 2: 129,985,538 (GRCm39) probably null Het
Tmc2 A G 2: 130,074,276 (GRCm39) Y323C probably damaging Het
Tnc T C 4: 63,901,112 (GRCm39) D1452G probably damaging Het
Ttn A G 2: 76,620,022 (GRCm39) I7555T probably damaging Het
Ugt2b36 A T 5: 87,238,801 (GRCm39) W131R probably damaging Het
Vmn2r75 A T 7: 85,820,870 (GRCm39) C21* probably null Het
Zfp592 T A 7: 80,691,296 (GRCm39) C1158* probably null Het
Other mutations in Nfkbie
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Nfkbie APN 17 45,871,139 (GRCm39) critical splice donor site probably null
IGL01787:Nfkbie APN 17 45,867,189 (GRCm39) missense probably damaging 1.00
IGL02162:Nfkbie APN 17 45,867,242 (GRCm39) critical splice donor site probably null
R2092:Nfkbie UTSW 17 45,869,465 (GRCm39) missense probably benign 0.06
R4289:Nfkbie UTSW 17 45,869,516 (GRCm39) missense probably damaging 1.00
R4512:Nfkbie UTSW 17 45,867,165 (GRCm39) missense probably benign 0.00
R4609:Nfkbie UTSW 17 45,869,510 (GRCm39) missense probably damaging 1.00
R4720:Nfkbie UTSW 17 45,867,232 (GRCm39) missense probably benign 0.19
R5420:Nfkbie UTSW 17 45,871,132 (GRCm39) missense probably benign 0.01
R7226:Nfkbie UTSW 17 45,870,153 (GRCm39) missense possibly damaging 0.85
R7304:Nfkbie UTSW 17 45,871,067 (GRCm39) missense possibly damaging 0.95
R7472:Nfkbie UTSW 17 45,870,233 (GRCm39) missense probably damaging 0.97
R8326:Nfkbie UTSW 17 45,870,234 (GRCm39) missense probably damaging 1.00
R8915:Nfkbie UTSW 17 45,871,067 (GRCm39) missense probably benign 0.01
R9038:Nfkbie UTSW 17 45,870,183 (GRCm39) missense probably damaging 0.99
R9045:Nfkbie UTSW 17 45,872,959 (GRCm39) missense probably damaging 1.00
R9485:Nfkbie UTSW 17 45,871,353 (GRCm39) missense probably damaging 1.00
Z1177:Nfkbie UTSW 17 45,871,434 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07