Incidental Mutation 'R2118:Ikbkb'
ID 231200
Institutional Source Beutler Lab
Gene Symbol Ikbkb
Ensembl Gene ENSMUSG00000031537
Gene Name inhibitor of kappaB kinase beta
Synonyms IKK[b], IKK-beta, IKK-2, IKK2, IKKbeta
MMRRC Submission 040122-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2118 (G1)
Quality Score 197
Status Validated
Chromosome 8
Chromosomal Location 23149228-23196605 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 23157233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033939] [ENSMUST00000063401] [ENSMUST00000125314] [ENSMUST00000135326]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000033939
SMART Domains Protein: ENSMUSP00000033939
Gene: ENSMUSG00000031537

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 15 247 1.2e-38 PFAM
Pfam:Pkinase 15 296 1.2e-54 PFAM
Pfam:Kdo 31 176 1.3e-7 PFAM
IKKbetaNEMObind 705 742 4.71e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000063401
SMART Domains Protein: ENSMUSP00000064235
Gene: ENSMUSG00000031537

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 15 247 7.3e-39 PFAM
Pfam:Pkinase 15 296 6.9e-56 PFAM
Pfam:Kdo 44 177 3e-8 PFAM
IKKbetaNEMObind 705 737 1.83e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125314
SMART Domains Protein: ENSMUSP00000138156
Gene: ENSMUSG00000031537

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 15 248 2.8e-38 PFAM
Pfam:Pkinase 15 296 2.5e-55 PFAM
Pfam:Kdo 43 177 1.4e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126496
Predicted Effect probably benign
Transcript: ENSMUST00000135326
SMART Domains Protein: ENSMUSP00000138378
Gene: ENSMUSG00000031537

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 15 248 2.8e-38 PFAM
Pfam:Pkinase 15 296 2.5e-55 PFAM
Pfam:Kdo 43 177 1.4e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146212
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (90/90)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene phosphorylates the inhibitor in the inhibitor/NF-kappa-B complex, causing dissociation of the inhibitor and activation of NF-kappa-B. The encoded protein itself is found in a complex of proteins. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit liver degeneration and die in midgestation. Conditional mutations that lack gene expression in lymphoid cells or epidermal keratinocytes exhibit B and T cell deficits and skin inflammation, respectively. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik T C 11: 83,331,190 (GRCm39) S31P possibly damaging Het
4933430I17Rik T A 4: 62,457,109 (GRCm39) L143M possibly damaging Het
Abca13 T C 11: 9,259,013 (GRCm39) probably benign Het
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Abi3bp T C 16: 56,298,227 (GRCm39) probably benign Het
Adamts8 T C 9: 30,854,359 (GRCm39) F76S probably damaging Het
Agpat3 T C 10: 78,113,918 (GRCm39) R257G probably damaging Het
Ahctf1 C A 1: 179,597,017 (GRCm39) R43L probably damaging Het
AI593442 T C 9: 52,588,993 (GRCm39) T195A probably benign Het
Aipl1 A T 11: 71,920,195 (GRCm39) L291Q possibly damaging Het
Ambn T A 5: 88,608,617 (GRCm39) probably benign Het
Arap2 G A 5: 62,864,028 (GRCm39) T532I probably damaging Het
Arg1 T C 10: 24,796,621 (GRCm39) N69D possibly damaging Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Arhgef38 T C 3: 132,866,514 (GRCm39) K208E probably benign Het
Asb4 A T 6: 5,390,687 (GRCm39) T27S probably benign Het
Ash1l C G 3: 88,892,602 (GRCm39) Q1494E possibly damaging Het
Car12 T C 9: 66,621,174 (GRCm39) V15A probably benign Het
Cdc20b A G 13: 113,215,232 (GRCm39) I267V probably benign Het
Cdh1 A G 8: 107,390,842 (GRCm39) I653V probably benign Het
Cenpe T A 3: 134,952,645 (GRCm39) M1445K possibly damaging Het
Cfap43 T C 19: 47,758,877 (GRCm39) E932G probably damaging Het
Cfhr1 G C 1: 139,478,642 (GRCm39) Q243E probably benign Het
Cnih2 C A 19: 5,148,276 (GRCm39) A6S possibly damaging Het
Cntnap1 G T 11: 101,079,483 (GRCm39) M1240I probably benign Het
Cntrl T C 2: 35,051,977 (GRCm39) S1050P probably benign Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Dbx2 A C 15: 95,522,681 (GRCm39) L342R probably damaging Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
Dnajb2 T C 1: 75,214,121 (GRCm39) W30R probably damaging Het
Ecel1 A G 1: 87,075,997 (GRCm39) S727P probably damaging Het
Ednrb T A 14: 104,059,204 (GRCm39) D274V probably benign Het
Fam78b G A 1: 166,906,278 (GRCm39) V146M probably damaging Het
Fancd2 A G 6: 113,537,035 (GRCm39) probably benign Het
Fbxw14 T C 9: 109,103,692 (GRCm39) probably benign Het
Gimap4 G T 6: 48,667,905 (GRCm39) C92F probably benign Het
Gm10033 A C 8: 69,824,942 (GRCm39) noncoding transcript Het
Gm5828 A G 1: 16,840,199 (GRCm39) noncoding transcript Het
Gnpat T C 8: 125,603,680 (GRCm39) V186A probably damaging Het
Gnptab T C 10: 88,272,260 (GRCm39) S967P probably benign Het
Il1rap A T 16: 26,529,315 (GRCm39) H379L probably damaging Het
Ints12 T C 3: 132,814,921 (GRCm39) V376A probably damaging Het
Kalrn C T 16: 34,152,600 (GRCm39) S309N possibly damaging Het
Kel T A 6: 41,666,234 (GRCm39) I471L probably benign Het
Klhl25 T C 7: 75,516,480 (GRCm39) V462A probably damaging Het
Ksr1 A T 11: 78,936,019 (GRCm39) M77K probably benign Het
Leo1 T A 9: 75,353,094 (GRCm39) N212K probably damaging Het
Ltbp1 T A 17: 75,617,154 (GRCm39) V1031E possibly damaging Het
Ltbr A G 6: 125,286,440 (GRCm39) S249P probably benign Het
Mast4 A G 13: 102,890,713 (GRCm39) V855A probably damaging Het
Mdga2 T A 12: 66,915,526 (GRCm39) E43V probably damaging Het
Mmaa A T 8: 79,994,588 (GRCm39) L406* probably null Het
Mtcl2 T C 2: 156,875,245 (GRCm39) E835G probably damaging Het
Nlrp12 A T 7: 3,290,079 (GRCm39) N144K probably damaging Het
Nlrp6 T C 7: 140,506,357 (GRCm39) V766A probably benign Het
Or4f61 C A 2: 111,922,675 (GRCm39) V124L probably benign Het
Or5h18 A G 16: 58,848,178 (GRCm39) F31L possibly damaging Het
Pabpc4l T C 3: 46,401,276 (GRCm39) T123A probably benign Het
Pappa2 T C 1: 158,684,836 (GRCm39) T768A probably damaging Het
Pde6d A G 1: 86,473,524 (GRCm39) F91L probably benign Het
Ppp1r13l A G 7: 19,105,346 (GRCm39) M373V possibly damaging Het
Prss37 G A 6: 40,492,294 (GRCm39) R186* probably null Het
Psg16 C A 7: 16,824,548 (GRCm39) H111N probably benign Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Psmd1 T A 1: 86,006,422 (GRCm39) S263T possibly damaging Het
Rai14 A G 15: 10,575,252 (GRCm39) F569L probably benign Het
Rbpms2 T A 9: 65,558,229 (GRCm39) D116E probably damaging Het
Rgs20 A G 1: 4,987,113 (GRCm39) probably benign Het
Rnf114 T C 2: 167,352,803 (GRCm39) L101P probably damaging Het
Rnf168 T G 16: 32,097,036 (GRCm39) L37R probably damaging Het
Rpe T C 1: 66,754,387 (GRCm39) M153T probably damaging Het
Sap18 T A 14: 58,036,011 (GRCm39) S66T probably damaging Het
Slc2a13 A G 15: 91,400,679 (GRCm39) V181A probably damaging Het
Spag17 A G 3: 99,956,556 (GRCm39) E884G possibly damaging Het
Sycn T C 7: 28,240,713 (GRCm39) S127P probably damaging Het
Tas2r106 A T 6: 131,655,317 (GRCm39) L178H probably damaging Het
Tas2r117 T A 6: 132,780,129 (GRCm39) I89K probably damaging Het
Tep1 C A 14: 51,093,029 (GRCm39) probably null Het
Tex14 T C 11: 87,410,569 (GRCm39) probably benign Het
Tll1 T C 8: 64,538,591 (GRCm39) E351G probably benign Het
Tmem44 T A 16: 30,366,262 (GRCm39) K55* probably null Het
Trak1 T A 9: 121,302,063 (GRCm39) *940R probably null Het
Vmn1r200 C T 13: 22,579,353 (GRCm39) T43I probably damaging Het
Wars2 T C 3: 99,123,883 (GRCm39) V248A probably benign Het
Wfdc6b C T 2: 164,459,363 (GRCm39) R142C probably benign Het
Zfp729a A T 13: 67,769,613 (GRCm39) probably null Het
Zfp759 C A 13: 67,287,578 (GRCm39) probably benign Het
Other mutations in Ikbkb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Ikbkb APN 8 23,196,127 (GRCm39) missense probably damaging 0.99
IGL00899:Ikbkb APN 8 23,150,463 (GRCm39) missense possibly damaging 0.84
IGL02271:Ikbkb APN 8 23,155,919 (GRCm39) missense probably benign 0.00
IGL02569:Ikbkb APN 8 23,183,899 (GRCm39) missense probably damaging 1.00
IGL02610:Ikbkb APN 8 23,165,088 (GRCm39) critical splice acceptor site probably null
IGL03085:Ikbkb APN 8 23,172,802 (GRCm39) missense probably benign 0.03
Baby UTSW 8 23,165,052 (GRCm39) missense probably damaging 1.00
Impaired UTSW 8 23,156,036 (GRCm39) missense probably damaging 1.00
Kiki UTSW 8 23,161,658 (GRCm39) missense possibly damaging 0.95
R0110:Ikbkb UTSW 8 23,161,651 (GRCm39) nonsense probably null
R0366:Ikbkb UTSW 8 23,185,276 (GRCm39) splice site probably benign
R0469:Ikbkb UTSW 8 23,161,651 (GRCm39) nonsense probably null
R0510:Ikbkb UTSW 8 23,161,651 (GRCm39) nonsense probably null
R1386:Ikbkb UTSW 8 23,155,633 (GRCm39) missense possibly damaging 0.69
R1436:Ikbkb UTSW 8 23,163,419 (GRCm39) missense probably benign 0.24
R1645:Ikbkb UTSW 8 23,181,082 (GRCm39) missense probably damaging 0.98
R1695:Ikbkb UTSW 8 23,163,496 (GRCm39) missense probably benign 0.00
R2120:Ikbkb UTSW 8 23,157,233 (GRCm39) splice site probably benign
R2121:Ikbkb UTSW 8 23,157,233 (GRCm39) splice site probably benign
R2124:Ikbkb UTSW 8 23,157,233 (GRCm39) splice site probably benign
R2124:Ikbkb UTSW 8 23,156,036 (GRCm39) missense probably damaging 1.00
R2148:Ikbkb UTSW 8 23,172,761 (GRCm39) missense probably damaging 1.00
R2179:Ikbkb UTSW 8 23,171,769 (GRCm39) critical splice acceptor site probably null
R2897:Ikbkb UTSW 8 23,159,693 (GRCm39) missense possibly damaging 0.71
R3861:Ikbkb UTSW 8 23,168,852 (GRCm39) missense possibly damaging 0.94
R4019:Ikbkb UTSW 8 23,161,728 (GRCm39) missense probably benign 0.03
R4723:Ikbkb UTSW 8 23,159,623 (GRCm39) missense probably benign 0.24
R4962:Ikbkb UTSW 8 23,171,693 (GRCm39) missense probably damaging 1.00
R5715:Ikbkb UTSW 8 23,168,866 (GRCm39) missense probably damaging 1.00
R6738:Ikbkb UTSW 8 23,165,052 (GRCm39) missense probably damaging 1.00
R6875:Ikbkb UTSW 8 23,155,909 (GRCm39) missense probably damaging 0.99
R7054:Ikbkb UTSW 8 23,161,658 (GRCm39) missense possibly damaging 0.95
R7284:Ikbkb UTSW 8 23,158,976 (GRCm39) missense probably benign 0.32
R7383:Ikbkb UTSW 8 23,159,066 (GRCm39) missense probably benign
R7633:Ikbkb UTSW 8 23,161,757 (GRCm39) missense probably benign 0.08
R7768:Ikbkb UTSW 8 23,185,252 (GRCm39) missense probably damaging 0.99
R7819:Ikbkb UTSW 8 23,161,742 (GRCm39) missense probably benign 0.05
R8332:Ikbkb UTSW 8 23,155,641 (GRCm39) missense possibly damaging 0.79
R8369:Ikbkb UTSW 8 23,181,097 (GRCm39) missense probably benign 0.32
R8421:Ikbkb UTSW 8 23,168,804 (GRCm39) critical splice donor site probably null
R8934:Ikbkb UTSW 8 23,150,407 (GRCm39) makesense probably null
R9249:Ikbkb UTSW 8 23,171,735 (GRCm39) nonsense probably null
R9352:Ikbkb UTSW 8 23,150,444 (GRCm39) missense probably benign
R9367:Ikbkb UTSW 8 23,171,711 (GRCm39) missense probably damaging 1.00
R9524:Ikbkb UTSW 8 23,172,740 (GRCm39) critical splice donor site probably null
R9581:Ikbkb UTSW 8 23,155,575 (GRCm39) missense probably damaging 0.99
R9588:Ikbkb UTSW 8 23,151,410 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GGAGGACACCTTTCCTTGTCAC -3'
(R):5'- CACATGCCTTCTAGCCAGTC -3'

Sequencing Primer
(F):5'- CTTCACAGGGACAAGGCTC -3'
(R):5'- TTCTAGCCAGTCAGCTGAGG -3'
Posted On 2014-09-18