Incidental Mutation 'IGL02327:Nfkbib'
ID 288516
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfkbib
Ensembl Gene ENSMUSG00000030595
Gene Name nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, beta
Synonyms IkB, IKappaBbeta
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # IGL02327
Quality Score
Status
Chromosome 7
Chromosomal Location 28457676-28466069 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 28458568 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q60778
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: 110,943,849 (GRCm39) C29S probably damaging Het
Ccdc66 G A 14: 27,215,343 (GRCm39) A399V probably damaging Het
Ccl12 A G 11: 81,993,948 (GRCm39) I68M possibly damaging Het
Cd244a T C 1: 171,386,909 (GRCm39) V6A probably benign Het
Cfap97 T A 8: 46,623,179 (GRCm39) S190T probably damaging Het
Chic2 G T 5: 75,187,741 (GRCm39) C106* probably null Het
Ctdsp2 G A 10: 126,832,251 (GRCm39) D237N probably benign Het
Cyp2a22 A T 7: 26,634,206 (GRCm39) M316K probably damaging Het
Cyp3a25 A G 5: 145,923,731 (GRCm39) F304S possibly damaging Het
Ddc A T 11: 11,813,739 (GRCm39) V209D probably damaging Het
Dhx16 A G 17: 36,194,717 (GRCm39) K446R probably benign Het
Fgd3 T C 13: 49,439,274 (GRCm39) K241E probably damaging Het
Hps1 G T 19: 42,744,784 (GRCm39) probably benign Het
Inpp4b C T 8: 82,768,591 (GRCm39) T700I probably benign Het
Kremen2 T A 17: 23,962,543 (GRCm39) M157L probably benign Het
Lrwd1 T C 5: 136,152,318 (GRCm39) Y582C probably damaging Het
Macf1 T A 4: 123,365,523 (GRCm39) R1514S probably benign Het
Mex3c T A 18: 73,723,781 (GRCm39) C625S probably damaging Het
Mical1 G A 10: 41,362,660 (GRCm39) E932K possibly damaging Het
Ncf2 A T 1: 152,692,744 (GRCm39) Y87F possibly damaging Het
Neo1 T C 9: 58,810,371 (GRCm39) T1027A probably benign Het
Nr1h2 G A 7: 44,200,924 (GRCm39) probably benign Het
Or1e25 A T 11: 73,493,981 (GRCm39) T192S probably damaging Het
Or2t43 T A 11: 58,457,761 (GRCm39) R137W probably damaging Het
Or9m2 A T 2: 87,820,601 (GRCm39) I49F probably damaging Het
Oxct1 A G 15: 4,066,571 (GRCm39) probably null Het
Pak1ip1 T G 13: 41,165,893 (GRCm39) N308K probably benign Het
Prpf38a T C 4: 108,425,607 (GRCm39) R224G unknown Het
Scfd1 T C 12: 51,436,100 (GRCm39) V83A possibly damaging Het
Tmem131 C T 1: 36,838,103 (GRCm39) G1545D probably damaging Het
Trav13n-4 A T 14: 53,601,567 (GRCm39) probably benign Het
Ttc3 A G 16: 94,248,967 (GRCm39) D1155G probably damaging Het
Unc80 G A 1: 66,680,832 (GRCm39) V2143I probably benign Het
Vmn2r16 T C 5: 109,487,987 (GRCm39) Y287H probably benign Het
Vmn2r59 A G 7: 41,661,655 (GRCm39) V720A probably benign Het
Wars1 T A 12: 108,832,227 (GRCm39) probably null Het
Wdcp A G 12: 4,901,115 (GRCm39) K324E possibly damaging Het
Wdfy3 A T 5: 102,036,058 (GRCm39) L2105H probably damaging Het
Xirp2 A T 2: 67,340,444 (GRCm39) D895V probably damaging Het
Zscan10 A T 17: 23,826,546 (GRCm39) probably benign Het
Other mutations in Nfkbib
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01822:Nfkbib APN 7 28,461,134 (GRCm39) missense probably benign 0.00
IGL02006:Nfkbib APN 7 28,465,667 (GRCm39) critical splice donor site probably null
IGL02342:Nfkbib APN 7 28,461,528 (GRCm39) missense probably damaging 1.00
IGL02610:Nfkbib APN 7 28,459,274 (GRCm39) missense probably damaging 0.99
R0574:Nfkbib UTSW 7 28,461,213 (GRCm39) missense probably benign 0.28
R1470:Nfkbib UTSW 7 28,461,447 (GRCm39) splice site probably null
R1730:Nfkbib UTSW 7 28,461,480 (GRCm39) missense probably damaging 1.00
R1783:Nfkbib UTSW 7 28,461,480 (GRCm39) missense probably damaging 1.00
R4902:Nfkbib UTSW 7 28,461,173 (GRCm39) nonsense probably null
R7291:Nfkbib UTSW 7 28,458,628 (GRCm39) missense possibly damaging 0.62
R7297:Nfkbib UTSW 7 28,465,768 (GRCm39) missense probably benign 0.07
R7890:Nfkbib UTSW 7 28,461,512 (GRCm39) missense probably damaging 1.00
R7923:Nfkbib UTSW 7 28,465,688 (GRCm39) missense probably damaging 0.99
R9436:Nfkbib UTSW 7 28,465,800 (GRCm39) missense probably damaging 1.00
R9438:Nfkbib UTSW 7 28,459,654 (GRCm39) missense probably damaging 1.00
R9630:Nfkbib UTSW 7 28,461,304 (GRCm39) nonsense probably null
Posted On 2015-04-16