Incidental Mutation 'R2179:Ikbkb'
ID 237054
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 040181-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2179 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 23149228-23196605 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) C to T at 23171769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000064235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033939] [ENSMUST00000033939] [ENSMUST00000063401] [ENSMUST00000063401] [ENSMUST00000063401] [ENSMUST00000063401] [ENSMUST00000125314] [ENSMUST00000125314] [ENSMUST00000135326] [ENSMUST00000135326]
AlphaFold no structure available at present
Predicted Effect probably null
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 null
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 null
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 null
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 null
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 null
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 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 probably benign
Transcript: ENSMUST00000131767
SMART Domains Protein: ENSMUSP00000120916
Gene: ENSMUSG00000031537

DomainStartEndE-ValueType
Pfam:Pkinase 7 100 5.5e-16 PFAM
Pfam:Pkinase_Tyr 11 100 1.4e-13 PFAM
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 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: ENSMUST00000143638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144583
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146212
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150259
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
Validation Efficiency
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,271,018 (GRCm39) D849G possibly damaging Het
Amz2 A G 11: 109,320,658 (GRCm39) H155R probably damaging Het
Cfhr4 G T 1: 139,659,279 (GRCm39) P679Q probably damaging Het
Chuk C A 19: 44,092,160 (GRCm39) C46F possibly damaging Het
Cp A T 3: 20,042,151 (GRCm39) D973V probably damaging Het
Cpm T A 10: 117,519,266 (GRCm39) D391E probably benign Het
Creb3 T C 4: 43,566,306 (GRCm39) S271P probably damaging Het
Cubn T A 2: 13,323,053 (GRCm39) H2838L possibly damaging Het
Dennd2d A G 3: 106,399,776 (GRCm39) H233R probably benign Het
Dnaaf2 C A 12: 69,245,071 (GRCm39) probably benign Het
Enpp3 T A 10: 24,681,793 (GRCm39) Q304H probably benign Het
Fermt3 C A 19: 6,991,782 (GRCm39) R143L probably benign Het
Fndc8 A C 11: 82,789,580 (GRCm39) K246T probably damaging Het
Gaa A G 11: 119,165,884 (GRCm39) probably null Het
Gucy2e A T 11: 69,119,404 (GRCm39) probably null Het
Igf1r A G 7: 67,653,698 (GRCm39) T79A probably damaging Het
Il16 A T 7: 83,337,287 (GRCm39) probably null Het
Irs1 T A 1: 82,267,940 (GRCm39) H92L possibly damaging Het
Itpr2 A G 6: 146,277,464 (GRCm39) M315T probably benign Het
Lrba T G 3: 86,261,588 (GRCm39) L1514R probably damaging Het
Mcpt2 A G 14: 56,279,573 (GRCm39) probably benign Het
Metap1d A G 2: 71,283,715 (GRCm39) I5V probably benign Het
Mga T A 2: 119,790,923 (GRCm39) S2479T probably damaging Het
Mllt10 T C 2: 18,215,604 (GRCm39) V1063A probably damaging Het
Mroh2b G A 15: 4,950,928 (GRCm39) probably null Het
Mtfr1 C T 3: 19,254,308 (GRCm39) R15* probably null Het
Npm2 A G 14: 70,885,749 (GRCm39) V152A probably benign Het
Nrxn3 T A 12: 89,221,448 (GRCm39) V409D probably damaging Het
Ogdhl A G 14: 32,057,302 (GRCm39) N303D probably damaging Het
Or10g9 T C 9: 39,912,220 (GRCm39) Y101C probably benign Het
Or10q1b T C 19: 13,682,758 (GRCm39) V189A probably damaging Het
Or4d11 T C 19: 12,013,452 (GRCm39) Y218C probably damaging Het
Or6s1 A G 14: 51,308,238 (GRCm39) V204A probably benign Het
Pah T C 10: 87,403,197 (GRCm39) F191L probably damaging Het
Paics A T 5: 77,109,291 (GRCm39) I209F probably damaging Het
Pcare T C 17: 72,059,521 (GRCm39) D52G probably damaging Het
Pld6 A G 11: 59,678,184 (GRCm39) L93P probably damaging Het
Plod3 T C 5: 137,019,862 (GRCm39) F431L possibly damaging Het
Ppm1b T A 17: 85,301,862 (GRCm39) D247E probably damaging Het
Prx A G 7: 27,217,410 (GRCm39) D637G probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,116 (GRCm39) probably benign Het
Ryr2 A T 13: 11,720,679 (GRCm39) Y2656* probably null Het
Setd2 T A 9: 110,423,756 (GRCm39) Y492* probably null Het
Shmt1 A G 11: 60,697,825 (GRCm39) W9R possibly damaging Het
Slc25a17 A G 15: 81,222,151 (GRCm39) V107A probably benign Het
Sptlc1 A T 13: 53,505,675 (GRCm39) Y248N probably damaging Het
Stam2 T C 2: 52,584,936 (GRCm39) T453A probably benign Het
Tango2 G T 16: 18,128,762 (GRCm39) N77K probably damaging Het
Tas2r121 A T 6: 132,677,831 (GRCm39) I47N probably damaging Het
Terb1 A T 8: 105,179,347 (GRCm39) C614S probably damaging Het
Terb1 T C 8: 105,199,369 (GRCm39) N525S probably benign Het
Ttc6 A G 12: 57,719,904 (GRCm39) D825G possibly damaging Het
U90926 A T 5: 92,357,838 (GRCm39) H104Q probably benign Het
Zfand4 G A 6: 116,291,742 (GRCm39) A559T possibly damaging Het
Zfp462 T C 4: 55,009,524 (GRCm39) S497P possibly 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
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
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'- GGGCACAAGACATTCACAAG -3'
(R):5'- GTGCCCCAAATCTACTATGCTG -3'

Sequencing Primer
(F):5'- TTCTAAATATCCATGGAGCCGGC -3'
(R):5'- CCAAATCTACTATGCTGAGGGTACTC -3'
Posted On 2014-10-02