Incidental Mutation 'IGL00095:Ikbkb'
ID 1409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ikbkb
Ensembl Gene ENSMUSG00000031537
Gene Name inhibitor of kappaB kinase beta
Synonyms IKK[b], IKK-beta, IKK-2, IKK2, IKKbeta
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00095
Quality Score
Status
Chromosome 8
Chromosomal Location 23149228-23196605 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23196127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 26 (F26I)
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 possibly damaging
Transcript: ENSMUST00000033939
AA Change: F26I

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033939
Gene: ENSMUSG00000031537
AA Change: F26I

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 possibly damaging
Transcript: ENSMUST00000063401
AA Change: F26I

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000064235
Gene: ENSMUSG00000031537
AA Change: F26I

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 damaging
Transcript: ENSMUST00000125314
AA Change: F26I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138156
Gene: ENSMUSG00000031537
AA Change: F26I

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 probably damaging
Transcript: ENSMUST00000135326
AA Change: F26I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138378
Gene: ENSMUSG00000031537
AA Change: F26I

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: ENSMUST00000144583
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146212
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149093
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150214
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cadm2 A T 16: 66,679,639 (GRCm39) Y65N probably damaging Het
Catsperg2 C A 7: 29,397,483 (GRCm39) C1042F possibly damaging Het
Cluh T C 11: 74,554,890 (GRCm39) V776A probably benign Het
Crxos T A 7: 15,632,543 (GRCm39) C116* probably null Het
Csmd1 A G 8: 16,059,297 (GRCm39) probably benign Het
Cubn C A 2: 13,496,631 (GRCm39) probably benign Het
Exoc2 A G 13: 31,004,609 (GRCm39) I858T probably benign Het
Frmpd1 C A 4: 45,279,456 (GRCm39) T727K possibly damaging Het
Hapln3 T C 7: 78,771,731 (GRCm39) T53A probably damaging Het
Hnrnpul1 T A 7: 25,425,579 (GRCm39) Q584L possibly damaging Het
Il31ra A T 13: 112,684,012 (GRCm39) I120N possibly damaging Het
Itih1 C T 14: 30,651,778 (GRCm39) V855M probably benign Het
Krtap4-16 A G 11: 99,742,032 (GRCm39) S123P possibly damaging Het
Large1 C T 8: 73,564,125 (GRCm39) R547Q probably damaging Het
Madd A G 2: 91,006,111 (GRCm39) probably benign Het
Mark1 A G 1: 184,630,800 (GRCm39) V770A probably damaging Het
Mpeg1 T C 19: 12,440,074 (GRCm39) F511L probably benign Het
Mrgpra9 A G 7: 46,884,839 (GRCm39) V276A possibly damaging Het
Nav3 T C 10: 109,677,594 (GRCm39) T666A probably damaging Het
Ndufa8 T C 2: 35,934,467 (GRCm39) D37G probably damaging Het
Nlrx1 A G 9: 44,164,576 (GRCm39) L956P probably damaging Het
Nr5a1 T C 2: 38,598,353 (GRCm39) E148G probably benign Het
Or10ab5 A T 7: 108,245,043 (GRCm39) F247I possibly damaging Het
Or14c46 T C 7: 85,918,877 (GRCm39) N40S probably damaging Het
Otulinl A G 15: 27,658,202 (GRCm39) S273P possibly damaging Het
Patj A C 4: 98,423,799 (GRCm39) Q1184P possibly damaging Het
Phf20l1 A G 15: 66,500,884 (GRCm39) T619A probably benign Het
Pla2g6 T C 15: 79,173,441 (GRCm39) T643A probably damaging Het
Pramel42 T C 5: 94,685,663 (GRCm39) L441P probably damaging Het
Radil A G 5: 142,483,677 (GRCm39) S510P probably damaging Het
Spock1 A G 13: 57,735,552 (GRCm39) probably benign Het
Stag3 C T 5: 138,297,400 (GRCm39) T577M probably damaging Het
Tap2 C T 17: 34,434,352 (GRCm39) R613C probably benign Het
Tnn A G 1: 159,953,021 (GRCm39) V673A possibly damaging Het
Trrap T C 5: 144,716,784 (GRCm39) probably benign Het
Vmn2r28 T C 7: 5,491,068 (GRCm39) D393G probably benign Het
Zbtb48 T C 4: 152,105,851 (GRCm39) H418R probably damaging Het
Zc3h12d T C 10: 7,738,231 (GRCm39) V179A probably damaging Het
Other mutations in Ikbkb
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2011-07-12