Incidental Mutation 'R2120:Ikbkb'
ID 231381
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 040124-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2120 (G1)
Quality Score 206
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: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (86/86)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,259,013 (GRCm39) probably benign Het
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Actrt2 C T 4: 154,751,551 (GRCm39) R195Q probably benign Het
Adamts12 C T 15: 11,310,665 (GRCm39) T974I probably damaging Het
Ankrd65 A G 4: 155,876,530 (GRCm39) T239A probably benign Het
Ano7 G T 1: 93,329,855 (GRCm39) probably benign Het
Apc A T 18: 34,409,654 (GRCm39) E198V probably damaging Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Atp9a A T 2: 168,495,457 (GRCm39) V583E probably damaging Het
Bicral C T 17: 47,135,741 (GRCm39) A490T probably benign Het
C1rl C T 6: 124,485,672 (GRCm39) P348S probably damaging Het
Cog1 T C 11: 113,540,424 (GRCm39) L13P probably damaging Het
Cx3cr1 T A 9: 119,880,749 (GRCm39) T218S probably damaging Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
E2f4 A G 8: 106,026,973 (GRCm39) Y179C probably damaging Het
Ecel1 A G 1: 87,075,997 (GRCm39) S727P probably damaging Het
Endod1 T C 9: 14,268,949 (GRCm39) N179D probably benign Het
Epc2 C T 2: 49,437,621 (GRCm39) probably benign Het
Ets2 G T 16: 95,519,977 (GRCm39) R401L probably benign Het
Fgd4 C T 16: 16,243,692 (GRCm39) C614Y probably benign Het
Fgf18 A C 11: 33,068,003 (GRCm39) F129C probably damaging Het
Frem3 A T 8: 81,342,086 (GRCm39) T1460S probably benign Het
H2-M1 T G 17: 36,980,929 (GRCm39) T336P possibly damaging Het
Ipo7 G T 7: 109,648,838 (GRCm39) D704Y probably damaging Het
Jaml T A 9: 45,012,362 (GRCm39) I283N probably damaging Het
Jarid2 G T 13: 45,059,812 (GRCm39) M681I probably benign Het
Kif4-ps T C 12: 101,113,956 (GRCm39) L695P probably damaging Het
Kmt2d A G 15: 98,737,410 (GRCm39) probably benign Het
Krt25 T C 11: 99,212,023 (GRCm39) T205A probably benign Het
Lif T C 11: 4,219,051 (GRCm39) V110A possibly 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
Man2b1 A G 8: 85,819,653 (GRCm39) probably benign Het
Med16 A T 10: 79,738,916 (GRCm39) M290K possibly damaging Het
Mov10l1 C A 15: 88,891,830 (GRCm39) Q562K probably benign Het
Msantd2 C T 9: 37,434,227 (GRCm39) R357W probably damaging Het
Mtcl2 T C 2: 156,875,245 (GRCm39) E835G probably damaging Het
Mtmr6 T C 14: 60,534,108 (GRCm39) F449L probably damaging Het
Myt1l A T 12: 29,833,618 (GRCm39) probably null Het
Neb A G 2: 52,154,076 (GRCm39) F2345S probably damaging Het
Nlrp6 T C 7: 140,506,357 (GRCm39) V766A probably benign Het
Or11g27 T C 14: 50,771,403 (GRCm39) I178T probably damaging Het
Or4k36 A G 2: 111,145,844 (GRCm39) T7A probably benign Het
Or6d13 A T 6: 116,517,416 (GRCm39) M1L probably null Het
Or8k22 G A 2: 86,163,689 (GRCm39) R4C probably benign Het
Patj T A 4: 98,344,462 (GRCm39) D591E probably benign Het
Pde6d A G 1: 86,473,524 (GRCm39) F91L probably benign Het
Pitpnm2 G A 5: 124,265,332 (GRCm39) P757L probably damaging Het
Plcd4 A G 1: 74,603,584 (GRCm39) T662A probably benign Het
Podn C T 4: 107,880,558 (GRCm39) A31T probably damaging Het
Prss37 G A 6: 40,492,294 (GRCm39) R186* probably null 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
Pum1 C A 4: 130,396,581 (GRCm39) T112K possibly damaging Het
Rab3gap2 A T 1: 184,993,564 (GRCm39) D782V possibly damaging Het
Rasgrp2 T A 19: 6,454,425 (GRCm39) M156K probably benign Het
Reln G A 5: 22,174,083 (GRCm39) H2007Y probably damaging Het
Rhbdl2 T A 4: 123,718,712 (GRCm39) I222K probably damaging Het
Rimbp2 A G 5: 128,865,582 (GRCm39) S582P probably damaging Het
Rpe T C 1: 66,754,387 (GRCm39) M153T probably damaging Het
Sars1 T C 3: 108,341,472 (GRCm39) I114V probably benign Het
Scamp5 C A 9: 57,354,508 (GRCm39) V49F possibly damaging Het
Sec14l1 C T 11: 117,039,358 (GRCm39) probably benign Het
Serpinb8 A G 1: 107,533,617 (GRCm39) E224G probably damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Slco6c1 C T 1: 96,993,808 (GRCm39) R645H possibly damaging Het
Srgn T A 10: 62,343,413 (GRCm39) probably benign Het
Stk40 C T 4: 126,022,640 (GRCm39) T138I probably benign Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Tada3 T C 6: 113,347,976 (GRCm39) I263V possibly damaging Het
Tas2r106 A T 6: 131,655,317 (GRCm39) L178H probably damaging Het
Tas2r115 T A 6: 132,714,470 (GRCm39) R160S possibly damaging Het
Trak1 T A 9: 121,302,063 (GRCm39) *940R probably null Het
Trp53bp2 A G 1: 182,269,204 (GRCm39) M223V probably benign Het
Ttc21b C T 2: 66,057,098 (GRCm39) V625I probably benign Het
Txnrd1 T A 10: 82,723,067 (GRCm39) C421S possibly damaging Het
Unc45a T C 7: 79,989,846 (GRCm39) T8A probably benign Het
Usp6nl T A 2: 6,445,748 (GRCm39) V552E probably damaging Het
Vmn2r115 T G 17: 23,578,297 (GRCm39) L590R probably damaging Het
Vmn2r88 A T 14: 51,650,665 (GRCm39) H126L probably benign Het
Vps13c A G 9: 67,826,616 (GRCm39) D1419G possibly damaging Het
Vwa3a A G 7: 120,391,641 (GRCm39) T776A probably benign Het
Zfp580 T C 7: 5,056,008 (GRCm39) Y123H probably damaging 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
R2118: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'- GAGGACACCTTTCCTTGTCAC -3'
(R):5'- CATGCCTTCTAGCCAGTCAG -3'

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