Incidental Mutation 'R1645:Ikbkb'
ID 173820
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 039681-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1645 (G1)
Quality Score 219
Status Not validated
Chromosome 8
Chromosomal Location 23149228-23196605 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 23181082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 127 (S127I)
Ref Sequence ENSEMBL: ENSMUSP00000064235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033939] [ENSMUST00000063401] [ENSMUST00000125314] [ENSMUST00000135326]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000033939
AA Change: S127I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033939
Gene: ENSMUSG00000031537
AA Change: S127I

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 damaging
Transcript: ENSMUST00000063401
AA Change: S127I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000064235
Gene: ENSMUSG00000031537
AA Change: S127I

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 possibly damaging
Transcript: ENSMUST00000125314
AA Change: S127I

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000138156
Gene: ENSMUSG00000031537
AA Change: S127I

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: ENSMUST00000126439
Predicted Effect unknown
Transcript: ENSMUST00000131767
AA Change: S78I
SMART Domains Protein: ENSMUSP00000120916
Gene: ENSMUSG00000031537
AA Change: S78I

DomainStartEndE-ValueType
Pfam:Pkinase 7 100 5.5e-16 PFAM
Pfam:Pkinase_Tyr 11 100 1.4e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000135326
AA Change: S127I

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000138378
Gene: ENSMUSG00000031537
AA Change: S127I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144583
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150259
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.3%
  • 20x: 89.2%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,948,926 (GRCm39) M1732V probably benign Het
Acvr1 A T 2: 58,352,911 (GRCm39) C350S probably damaging Het
Adgrl2 A T 3: 148,571,244 (GRCm39) V130D probably damaging Het
Anapc1 A G 2: 128,500,166 (GRCm39) probably null Het
Asap1 A T 15: 63,961,324 (GRCm39) V1116E probably damaging Het
Bcas1 T A 2: 170,229,087 (GRCm39) D308V probably damaging Het
Brca1 G A 11: 101,400,879 (GRCm39) H1468Y probably benign Het
C2cd5 A G 6: 142,995,852 (GRCm39) C421R probably damaging Het
C4b A G 17: 34,959,571 (GRCm39) S363P probably damaging Het
Camk2b A T 11: 5,922,719 (GRCm39) C484S probably damaging Het
Cby2 C A 14: 75,821,089 (GRCm39) R212L probably benign Het
Ccny T C 18: 9,345,199 (GRCm39) T192A probably damaging Het
Chl1 G T 6: 103,660,141 (GRCm39) A356S probably benign Het
Dst T A 1: 34,264,803 (GRCm39) Y4850N probably damaging Het
Dyrk4 C A 6: 126,871,756 (GRCm39) E171* probably null Het
Entrep3 C A 3: 89,094,154 (GRCm39) D322E possibly damaging Het
Ephb1 A G 9: 101,804,758 (GRCm39) Y928H probably damaging Het
Fam114a2 A T 11: 57,390,621 (GRCm39) N304K probably benign Het
Fras1 A T 5: 96,848,445 (GRCm39) D1820V possibly damaging Het
Gabbr2 A T 4: 46,664,963 (GRCm39) probably null Het
Gm6358 T C 16: 88,937,967 (GRCm39) W69R unknown Het
Impa1 A T 3: 10,393,501 (GRCm39) M48K possibly damaging Het
Klra2 A T 6: 131,220,857 (GRCm39) probably null Het
Lama1 A T 17: 68,044,677 (GRCm39) Y192F probably benign Het
Lama2 T A 10: 27,244,981 (GRCm39) T267S probably damaging Het
Mroh7 G A 4: 106,577,865 (GRCm39) T271I probably benign Het
Myo9b A G 8: 71,775,622 (GRCm39) E348G probably damaging Het
Nrp2 C T 1: 62,824,283 (GRCm39) P796L probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Or10al4 A T 17: 38,037,229 (GRCm39) T114S probably benign Het
Or51i1 A G 7: 103,671,210 (GRCm39) F105S probably damaging Het
Or9k7 T A 10: 130,046,081 (GRCm39) D306V probably damaging Het
P3h2 T A 16: 25,815,982 (GRCm39) H177L probably damaging Het
Pcdhb16 T C 18: 37,612,423 (GRCm39) I461T probably benign Het
Pdlim3 A G 8: 46,349,785 (GRCm39) I32V probably benign Het
Pigu A C 2: 155,170,598 (GRCm39) Y143* probably null Het
Prkd3 A C 17: 79,263,949 (GRCm39) probably null Het
Psrc1 C T 3: 108,292,554 (GRCm39) R116W probably damaging Het
Rab5b A G 10: 128,522,695 (GRCm39) S29P possibly damaging Het
Rbm26 A G 14: 105,388,253 (GRCm39) V403A probably damaging Het
Rbm47 G T 5: 66,184,481 (GRCm39) R41S probably benign Het
Rngtt A G 4: 33,362,939 (GRCm39) I364M probably damaging Het
Ryr2 A T 13: 11,733,368 (GRCm39) C2271* probably null Het
Shcbp1 T A 8: 4,799,645 (GRCm39) Q277L probably benign Het
Sntg1 T C 1: 8,874,155 (GRCm39) T5A probably benign Het
Snx24 T C 18: 53,522,634 (GRCm39) F163S probably benign Het
Srp72 T C 5: 77,146,125 (GRCm39) V581A probably benign Het
Srrt T A 5: 137,300,401 (GRCm39) K59* probably null Het
Tnrc6b A G 15: 80,767,159 (GRCm39) T975A probably damaging Het
Vmn1r174 G A 7: 23,453,777 (GRCm39) V148I possibly damaging Het
Vmn2r115 T A 17: 23,565,192 (GRCm39) C360S possibly damaging Het
Vwa8 A T 14: 79,420,427 (GRCm39) Q1709H probably damaging Het
Wdr11 A G 7: 129,215,613 (GRCm39) T526A probably benign Het
Zfp532 C A 18: 65,820,335 (GRCm39) N973K 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
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
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'- CATGACCCCAGCGTATTAACAGGAG -3'
(R):5'- TCACTGACTGACCCAGGAGCAATC -3'

Sequencing Primer
(F):5'- CATTCCTACTGTGACTTAGAGAGG -3'
(R):5'- TGCCAGTACAACTGCTCCAG -3'
Posted On 2014-04-24