Incidental Mutation 'R6875:Ikbkb'
ID 536378
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 044971-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6875 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 23149228-23196605 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23155909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 586 (D586G)
Ref Sequence ENSEMBL: ENSMUSP00000064235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033939] [ENSMUST00000063401] [ENSMUST00000125314] [ENSMUST00000132279] [ENSMUST00000135326]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000033939
AA Change: D586G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000033939
Gene: ENSMUSG00000031537
AA Change: D586G

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: D586G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000064235
Gene: ENSMUSG00000031537
AA Change: D586G

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: ENSMUST00000132279
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
Meta Mutation Damage Score 0.3859 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 98% (58/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik T C 15: 12,812,154 (GRCm39) H270R probably damaging Het
Abcb1a T C 5: 8,751,628 (GRCm39) I336T probably benign Het
Adam19 T A 11: 46,003,702 (GRCm39) F177I probably benign Het
Ankrd53 T C 6: 83,745,155 (GRCm39) V455A probably damaging Het
Arrdc1 A G 2: 24,815,677 (GRCm39) S415P probably benign Het
Atp10a T C 7: 58,447,100 (GRCm39) L614P probably benign Het
Catsper1 G T 19: 5,393,991 (GRCm39) V668F probably damaging Het
Cluh T A 11: 74,552,744 (GRCm39) D596E probably damaging Het
Cnot10 A G 9: 114,444,175 (GRCm39) S407P probably benign Het
Commd6 T C 14: 101,871,786 (GRCm39) T86A probably damaging Het
D5Ertd579e A T 5: 36,762,001 (GRCm39) probably null Het
Eif3l A G 15: 78,969,760 (GRCm39) D252G probably damaging Het
Epha2 A T 4: 141,055,779 (GRCm39) S962C probably damaging Het
Fcho1 C A 8: 72,167,069 (GRCm39) probably null Het
Fgf23 G T 6: 127,050,179 (GRCm39) G63C probably damaging Het
Flnc A T 6: 29,445,748 (GRCm39) Y834F probably damaging Het
Gcn1 T C 5: 115,726,169 (GRCm39) L608P probably damaging Het
Hdac5 T A 11: 102,093,102 (GRCm39) E545V probably damaging Het
Hecw2 A T 1: 53,976,291 (GRCm39) M166K probably benign Het
Il36g G C 2: 24,078,633 (GRCm39) probably null Het
Ipo13 A T 4: 117,762,108 (GRCm39) I422N possibly damaging Het
Iqgap3 GGAGAG GGAG 3: 88,020,078 (GRCm39) probably null Het
Kat6a G A 8: 23,422,377 (GRCm39) A896T probably benign Het
Kif28 A G 1: 179,563,559 (GRCm39) I139T probably damaging Het
Klhl25 A G 7: 75,516,090 (GRCm39) E332G probably damaging Het
Krt8 C T 15: 101,906,343 (GRCm39) A389T probably benign Het
Msrb3 T C 10: 120,620,011 (GRCm39) S175G probably benign Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Myo10 T C 15: 25,805,745 (GRCm39) Y1709H probably benign Het
Nckap5 A G 1: 125,950,931 (GRCm39) S1519P probably benign Het
Npnt T A 3: 132,615,671 (GRCm39) D124V probably damaging Het
Nr1d1 A T 11: 98,661,662 (GRCm39) probably null Het
Ogdh A G 11: 6,290,477 (GRCm39) Y365C probably benign Het
Or4f56 A T 2: 111,703,306 (GRCm39) I298N possibly damaging Het
Phf21b A T 15: 84,671,647 (GRCm39) C416S probably damaging Het
Prpsap1 A G 11: 116,362,264 (GRCm39) S373P probably damaging Het
Qrfprl A T 6: 65,433,320 (GRCm39) N380I probably benign Het
Rab28 T C 5: 41,860,877 (GRCm39) T26A probably damaging Het
Rbbp8nl A G 2: 179,921,019 (GRCm39) I455T probably benign Het
Rnft2 G A 5: 118,366,883 (GRCm39) A285V possibly damaging Het
Rrp36 G T 17: 46,983,297 (GRCm39) Q106K probably benign Het
Rsf1 CG CGACGGCGGAG 7: 97,229,115 (GRCm39) probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Scn5a A G 9: 119,315,710 (GRCm39) L1666P probably damaging Het
Siglecf A C 7: 43,004,624 (GRCm39) T318P probably benign Het
Slc22a1 C T 17: 12,886,192 (GRCm39) W147* probably null Het
Smchd1 T C 17: 71,660,501 (GRCm39) I1868V probably damaging Het
Snx21 A G 2: 164,633,822 (GRCm39) S203G probably damaging Het
Srl T C 16: 4,300,695 (GRCm39) K792R probably benign Het
Srrt A G 5: 137,296,935 (GRCm39) F100S probably benign Het
Stard9 G T 2: 120,527,917 (GRCm39) M1391I probably benign Het
Syne2 A G 12: 76,082,404 (GRCm39) E119G probably damaging Het
Syt11 G T 3: 88,669,462 (GRCm39) S143R possibly damaging Het
Tiparp T A 3: 65,439,063 (GRCm39) H126Q probably benign Het
Tulp2 C A 7: 45,168,038 (GRCm39) T150K probably benign Het
Ugt2b37 T A 5: 87,390,288 (GRCm39) Y386F probably benign Het
Usp31 C T 7: 121,248,863 (GRCm39) W860* probably null Het
Zfp317 A G 9: 19,554,961 (GRCm39) R30G probably damaging Het
Zfp709 C A 8: 72,642,851 (GRCm39) N93K 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
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
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'- CGGTTCTTCACTGTGTAGGCAAG -3'
(R):5'- AAGAGTTAGCAGGCTGGTGC -3'

Sequencing Primer
(F):5'- TTCACTGTGTAGGCAAGGCAGAG -3'
(R):5'- CAGGCTGGTGCTTAAATGTCC -3'
Posted On 2018-10-18