Incidental Mutation 'IGL00392:Nfkbie'
ID5757
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfkbie
Ensembl Gene ENSMUSG00000023947
Gene Namenuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, epsilon
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.364) question?
Stock #IGL00392
Quality Score
Status
Chromosome17
Chromosomal Location45555716-45563169 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 45560213 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000024742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024742] [ENSMUST00000041353] [ENSMUST00000223987] [ENSMUST00000224905] [ENSMUST00000226086]
Predicted Effect probably null
Transcript: ENSMUST00000024742
SMART Domains Protein: ENSMUSP00000024742
Gene: ENSMUSG00000023947

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
Predicted Effect probably benign
Transcript: ENSMUST00000041353
SMART Domains Protein: ENSMUSP00000037834
Gene: ENSMUSG00000037089

DomainStartEndE-ValueType
Pfam:UAA 62 363 5.1e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223987
Predicted Effect probably benign
Transcript: ENSMUST00000224341
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224559
Predicted Effect probably benign
Transcript: ENSMUST00000224905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225226
Predicted Effect probably benign
Transcript: ENSMUST00000226086
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik T G 19: 45,940,488 H389P probably benign Het
Alpk3 T C 7: 81,078,009 Y296H possibly damaging Het
Brca2 A G 5: 150,541,240 T1490A probably benign Het
Btaf1 A T 19: 37,009,702 D1732V probably damaging Het
Capzb T C 4: 139,288,947 I273T probably benign Het
Carmil1 G A 13: 24,094,491 T165I probably damaging Het
Cc2d2a A G 5: 43,724,380 probably benign Het
Ccdc173 T C 2: 69,771,984 H361R probably benign Het
Cdh22 A G 2: 165,112,601 Y667H possibly damaging Het
Celsr1 T A 15: 85,931,345 Q1823L probably benign Het
Cntrl T C 2: 35,137,814 probably benign Het
Dhx15 A T 5: 52,157,582 probably benign Het
Dip2c A T 13: 9,493,108 D30V probably damaging Het
Dyrk2 T C 10: 118,859,844 D503G probably damaging Het
Enpp1 T A 10: 24,645,427 I801F possibly damaging Het
Fnbp4 A C 2: 90,751,622 probably benign Het
Klk1b5 T A 7: 44,216,504 W2R probably benign Het
Lama2 T C 10: 27,188,265 K1240R probably benign Het
Matn2 A G 15: 34,402,856 N409S probably benign Het
Mep1b A T 18: 21,084,186 K121* probably null Het
Mettl26 T C 17: 25,876,124 probably null Het
Myh7 T C 14: 54,987,388 E574G probably damaging Het
Nlrc4 T C 17: 74,446,534 R285G probably benign Het
Pax8 T C 2: 24,443,132 Y66C probably damaging Het
Plxna2 A G 1: 194,800,568 D1523G probably damaging Het
Pou2f1 A G 1: 165,896,590 probably benign Het
Prom1 A G 5: 44,007,021 probably null Het
Ptk6 T C 2: 181,195,818 D436G probably benign Het
Robo4 T A 9: 37,408,229 F592I probably damaging Het
Sec24c C A 14: 20,693,203 S964R probably benign Het
Sgcb G T 5: 73,635,678 N260K possibly damaging Het
Smarcd2 T C 11: 106,265,904 D221G probably damaging Het
Unc13b C T 4: 43,240,285 R3569W probably damaging Het
Zfpl1 C A 19: 6,081,107 R285L possibly damaging Het
Other mutations in Nfkbie
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01331:Nfkbie APN 17 45558569 missense probably benign 0.41
IGL01787:Nfkbie APN 17 45556263 missense probably damaging 1.00
IGL02162:Nfkbie APN 17 45556316 critical splice donor site probably null
R2092:Nfkbie UTSW 17 45558539 missense probably benign 0.06
R4289:Nfkbie UTSW 17 45558590 missense probably damaging 1.00
R4512:Nfkbie UTSW 17 45556239 missense probably benign 0.00
R4609:Nfkbie UTSW 17 45558584 missense probably damaging 1.00
R4720:Nfkbie UTSW 17 45556306 missense probably benign 0.19
R5420:Nfkbie UTSW 17 45560206 missense probably benign 0.01
R7226:Nfkbie UTSW 17 45559227 missense possibly damaging 0.85
R7304:Nfkbie UTSW 17 45560141 missense possibly damaging 0.95
Posted On2012-04-20