Incidental Mutation 'R4902:Nfkbib'
ID 377875
Institutional Source Beutler Lab
Gene Symbol Nfkbib
Ensembl Gene ENSMUSG00000030595
Gene Name nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, beta
Synonyms IkB, IKappaBbeta
MMRRC Submission 042505-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # R4902 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 28457676-28466069 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 28461173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 158 (S158*)
Ref Sequence ENSEMBL: ENSMUSP00000083012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032815] [ENSMUST00000085851] [ENSMUST00000122915] [ENSMUST00000137121] [ENSMUST00000178767]
AlphaFold Q60778
Predicted Effect probably null
Transcript: ENSMUST00000032815
AA Change: S158*
SMART Domains Protein: ENSMUSP00000032815
Gene: ENSMUSG00000030595
AA Change: S158*

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 null
Transcript: ENSMUST00000085851
AA Change: S158*
SMART Domains Protein: ENSMUSP00000083012
Gene: ENSMUSG00000030595
AA Change: S158*

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: ENSMUST00000122915
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
Validation Efficiency 100% (84/84)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930488N24Rik T C 17: 14,326,408 (GRCm39) noncoding transcript Het
Adamdec1 T C 14: 68,809,215 (GRCm39) N249S probably damaging Het
Asxl1 T A 2: 153,241,751 (GRCm39) V767E probably benign Het
Atp6v1f T C 6: 29,470,271 (GRCm39) probably benign Het
Brix1 T C 15: 10,483,378 (GRCm39) probably null Het
Cap2 T C 13: 46,684,501 (GRCm39) V2A probably damaging Het
Chrnb2 A G 3: 89,668,248 (GRCm39) C356R probably damaging Het
Chtf8 C T 8: 107,612,424 (GRCm39) G172R probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dact2 T A 17: 14,416,991 (GRCm39) K403M possibly damaging Het
Dhx40 A C 11: 86,662,036 (GRCm39) L674V possibly damaging Het
Dlc1 A G 8: 37,044,285 (GRCm39) V1230A probably damaging Het
Dnah7b T A 1: 46,329,935 (GRCm39) S3260T probably benign Het
Eef1a2 T A 2: 180,789,881 (GRCm39) D428V probably benign Het
Ehd1 T C 19: 6,344,273 (GRCm39) F178L possibly damaging Het
Eif4a3l1 T G 6: 136,306,262 (GRCm39) V241G probably benign Het
F2 A T 2: 91,465,316 (GRCm39) probably benign Het
Fam186a T C 15: 99,844,723 (GRCm39) D507G unknown Het
Fbxo11 G A 17: 88,372,702 (GRCm39) probably benign Het
Fry A T 5: 150,419,168 (GRCm39) M2871L probably benign Het
Gabrr2 A G 4: 33,095,512 (GRCm39) D442G probably damaging Het
Gemin5 A G 11: 58,055,103 (GRCm39) I214T probably benign Het
Gfra2 A G 14: 71,204,455 (GRCm39) N175S probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Jhy C T 9: 40,808,821 (GRCm39) probably benign Het
Krtap5-5 A T 7: 141,783,156 (GRCm39) C165S unknown Het
Lce1k T A 3: 92,714,134 (GRCm39) T17S unknown Het
Map3k1 C T 13: 111,909,146 (GRCm39) R268Q probably damaging Het
Med13l T A 5: 118,883,195 (GRCm39) H1351Q probably damaging Het
Met T C 6: 17,546,995 (GRCm39) V876A probably damaging Het
Mical2 T C 7: 111,936,107 (GRCm39) S903P probably benign Het
Mkks A G 2: 136,718,094 (GRCm39) V396A probably benign Het
Mvk T C 5: 114,594,060 (GRCm39) V305A probably benign Het
Myo5a A G 9: 75,081,360 (GRCm39) T982A probably benign Het
N4bp1 A G 8: 87,588,311 (GRCm39) V209A probably benign Het
Nkx3-1 G A 14: 69,428,367 (GRCm39) G72S probably benign Het
Ogfr A G 2: 180,235,518 (GRCm39) probably benign Het
Or10a3 G A 7: 108,480,624 (GRCm39) T63I probably benign Het
Or2t43 G A 11: 58,457,451 (GRCm39) S240F possibly damaging Het
Or8s8 T C 15: 98,354,796 (GRCm39) S202P probably damaging Het
Pcdhga8 T A 18: 37,948,978 (GRCm39) D131E probably damaging Het
Plch1 A G 3: 63,648,264 (GRCm39) probably benign Het
Polrmt A G 10: 79,582,385 (GRCm39) M1T probably null Het
Ppp1r12a T C 10: 108,066,451 (GRCm39) V214A probably damaging Het
Prr5l A G 2: 101,628,027 (GRCm39) probably benign Het
Prss35 A G 9: 86,638,175 (GRCm39) Q315R probably damaging Het
Psg29 G T 7: 16,945,837 (GRCm39) *469L probably null Het
Psmd4 A G 3: 94,943,170 (GRCm39) V78A probably damaging Het
Rad9a C A 19: 4,251,552 (GRCm39) probably benign Het
Rfx7 G T 9: 72,524,573 (GRCm39) V588F probably benign Het
Rnase13 A C 14: 52,160,052 (GRCm39) I29S probably benign Het
Steap2 T C 5: 5,725,866 (GRCm39) N386S possibly damaging Het
Ston1 A G 17: 88,952,680 (GRCm39) E719G probably damaging Het
Stx4a A G 7: 127,441,934 (GRCm39) probably null Het
Tekt2 A G 4: 126,217,263 (GRCm39) S212P possibly damaging Het
Tex19.2 A T 11: 121,007,782 (GRCm39) L222Q probably damaging Het
Tmem50a A G 4: 134,637,017 (GRCm39) I38T probably damaging Het
Ubr2 A G 17: 47,296,922 (GRCm39) V286A possibly damaging Het
Ugt2b35 T C 5: 87,151,159 (GRCm39) M255T possibly damaging Het
Vmn2r17 T A 5: 109,601,220 (GRCm39) F839L probably benign Het
Wdr36 T C 18: 32,992,314 (GRCm39) V617A possibly damaging Het
Wtip A T 7: 33,818,437 (GRCm39) probably null Het
Yeats2 G A 16: 20,026,418 (GRCm39) G765S probably benign Het
Zbtb3 T C 19: 8,781,331 (GRCm39) S315P probably benign Het
Zdhhc8 T C 16: 18,045,030 (GRCm39) M259V probably benign Het
Zfp120 A G 2: 149,961,440 (GRCm39) probably benign Het
Zfp236 A T 18: 82,627,543 (GRCm39) I1552N possibly damaging 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
IGL02327:Nfkbib APN 7 28,458,568 (GRCm39) missense probably benign 0.14
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
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
Predicted Primers PCR Primer
(F):5'- GCCATTGGCTACAACTCAGG -3'
(R):5'- ATCCTTGGGGAGGCATCTAC -3'

Sequencing Primer
(F):5'- TGGCCAGGAGCTCACATCTTC -3'
(R):5'- CCTTGGGGAGGCATCTACAGTAG -3'
Posted On 2016-04-15