Incidental Mutation 'IGL02327:Nfkbib'
ID288516
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfkbib
Ensembl Gene ENSMUSG00000030595
Gene Namenuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, beta
SynonymsIKappaBbeta, IkB
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.113) question?
Stock #IGL02327
Quality Score
Status
Chromosome7
Chromosomal Location28758251-28767512 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 28759143 bp
ZygosityHeterozygous
Amino Acid Change Proline to Glutamine at position 347 (P347Q)
Ref Sequence ENSEMBL: ENSMUSP00000083012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032815] [ENSMUST00000085851] [ENSMUST00000137121] [ENSMUST00000178767]
Predicted Effect probably benign
Transcript: ENSMUST00000032815
AA Change: P347Q

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000032815
Gene: ENSMUSG00000030595
AA Change: P347Q

DomainStartEndE-ValueType
low complexity region 19 45 N/A INTRINSIC
ANK 57 86 4.13e-2 SMART
ANK 93 122 1.6e1 SMART
ANK 126 155 5.98e1 SMART
low complexity region 183 191 N/A INTRINSIC
ANK 206 235 5.12e-7 SMART
ANK 240 269 1.76e-5 SMART
ANK 273 303 1.37e2 SMART
low complexity region 305 327 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000085851
AA Change: P347Q

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000083012
Gene: ENSMUSG00000030595
AA Change: P347Q

DomainStartEndE-ValueType
low complexity region 19 45 N/A INTRINSIC
ANK 57 86 4.13e-2 SMART
ANK 93 122 1.6e1 SMART
ANK 126 155 5.98e1 SMART
low complexity region 183 191 N/A INTRINSIC
ANK 206 235 5.12e-7 SMART
ANK 240 269 1.76e-5 SMART
ANK 273 303 1.37e2 SMART
low complexity region 305 327 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137121
SMART Domains Protein: ENSMUSP00000117769
Gene: ENSMUSG00000030595

DomainStartEndE-ValueType
low complexity region 19 45 N/A INTRINSIC
ANK 57 86 4.13e-2 SMART
ANK 93 122 1.6e1 SMART
ANK 126 151 2.15e3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178767
SMART Domains Protein: ENSMUSP00000137487
Gene: ENSMUSG00000096257

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 105 117 N/A INTRINSIC
coiled coil region 129 151 N/A INTRINSIC
low complexity region 206 215 N/A INTRINSIC
coiled coil region 228 270 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes an inhibitor of nuclear factor kappa-light-chain-enhancer of activated B cells (NF-kappaB). The encoded protein prevents NF-kappaB-mediated transcription activation by sequestering it in the cytosol. In response to signals that induce NF-kappaB, such as cytokines and growth factors, the encoded protein undergoes phosphorylation, triggering its rapid ubiquitination and proteasomal degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for one knock-out allele exhibit decreased susceptibility to endotoxin shock and induced arthritis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd9 A T 12: 110,977,415 C29S probably damaging Het
Ccdc66 G A 14: 27,493,386 A399V probably damaging Het
Ccl12 A G 11: 82,103,122 I68M possibly damaging Het
Cd244 T C 1: 171,559,341 V6A probably benign Het
Cfap97 T A 8: 46,170,142 S190T probably damaging Het
Chic2 G T 5: 75,027,080 C106* probably null Het
Ctdsp2 G A 10: 126,996,382 D237N probably benign Het
Cyp2a22 A T 7: 26,934,781 M316K probably damaging Het
Cyp3a25 A G 5: 145,986,921 F304S possibly damaging Het
Ddc A T 11: 11,863,739 V209D probably damaging Het
Dhx16 A G 17: 35,883,825 K446R probably benign Het
Fgd3 T C 13: 49,285,798 K241E probably damaging Het
Hps1 G T 19: 42,756,345 probably benign Het
Inpp4b C T 8: 82,041,962 T700I probably benign Het
Kremen2 T A 17: 23,743,569 M157L probably benign Het
Lrwd1 T C 5: 136,123,464 Y582C probably damaging Het
Macf1 T A 4: 123,471,730 R1514S probably benign Het
Mex3c T A 18: 73,590,710 C625S probably damaging Het
Mical1 G A 10: 41,486,664 E932K possibly damaging Het
Ncf2 A T 1: 152,816,993 Y87F possibly damaging Het
Neo1 T C 9: 58,903,088 T1027A probably benign Het
Nr1h2 G A 7: 44,551,500 probably benign Het
Olfr1158 A T 2: 87,990,257 I49F probably damaging Het
Olfr224 T A 11: 58,566,935 R137W probably damaging Het
Olfr384 A T 11: 73,603,155 T192S probably damaging Het
Oxct1 A G 15: 4,037,089 probably null Het
Pak1ip1 T G 13: 41,012,417 N308K probably benign Het
Prpf38a T C 4: 108,568,410 R224G unknown Het
Scfd1 T C 12: 51,389,317 V83A possibly damaging Het
Tmem131 C T 1: 36,799,022 G1545D probably damaging Het
Trav13n-4 A T 14: 53,364,110 probably benign Het
Ttc3 A G 16: 94,448,108 D1155G probably damaging Het
Unc80 G A 1: 66,641,673 V2143I probably benign Het
Vmn2r16 T C 5: 109,340,121 Y287H probably benign Het
Vmn2r59 A G 7: 42,012,231 V720A probably benign Het
Wars T A 12: 108,866,301 probably null Het
Wdcp A G 12: 4,851,115 K324E possibly damaging Het
Wdfy3 A T 5: 101,888,192 L2105H probably damaging Het
Xirp2 A T 2: 67,510,100 D895V probably damaging Het
Zscan10 A T 17: 23,607,572 probably benign Het
Other mutations in Nfkbib
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01822:Nfkbib APN 7 28761709 missense probably benign 0.00
IGL02006:Nfkbib APN 7 28766242 critical splice donor site probably null
IGL02342:Nfkbib APN 7 28762103 missense probably damaging 1.00
IGL02610:Nfkbib APN 7 28759849 missense probably damaging 0.99
R0574:Nfkbib UTSW 7 28761788 missense probably benign 0.28
R1470:Nfkbib UTSW 7 28762022 splice site probably null
R1730:Nfkbib UTSW 7 28762055 missense probably damaging 1.00
R1783:Nfkbib UTSW 7 28762055 missense probably damaging 1.00
R4902:Nfkbib UTSW 7 28761748 nonsense probably null
Posted On2015-04-16