Incidental Mutation 'IGL02859:Ikbke'
ID 362071
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ikbke
Ensembl Gene ENSMUSG00000042349
Gene Name inhibitor of kappaB kinase epsilon
Synonyms IKKepsilon, IKK-i
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02859
Quality Score
Status
Chromosome 1
Chromosomal Location 131182337-131207339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 131197934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 391 (S391C)
Ref Sequence ENSEMBL: ENSMUSP00000124190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062108] [ENSMUST00000159195] [ENSMUST00000161764]
AlphaFold Q9R0T8
Predicted Effect probably damaging
Transcript: ENSMUST00000062108
AA Change: S415C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054126
Gene: ENSMUSG00000042349
AA Change: S415C

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 9 249 1.1e-29 PFAM
Pfam:Pkinase 9 301 6.7e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159195
SMART Domains Protein: ENSMUSP00000124486
Gene: ENSMUSG00000042349

DomainStartEndE-ValueType
Pfam:Pkinase 9 130 2.2e-23 PFAM
Pfam:Pkinase_Tyr 9 130 2.1e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160748
Predicted Effect probably damaging
Transcript: ENSMUST00000161764
AA Change: S391C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124190
Gene: ENSMUSG00000042349
AA Change: S391C

DomainStartEndE-ValueType
Pfam:Pkinase 49 278 9.3e-31 PFAM
Pfam:Pkinase_Tyr 50 226 5.7e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186240
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IKBKE is a noncanonical I-kappa-B (see MIM 164008) kinase (IKK) that is essential for regulating antiviral signaling pathways. IKBKE has also been identified as a breast cancer (MIM 114480) oncogene and is amplified and overexpressed in over 30% of breast carcinomas and breast cancer cell lines (Hutti et al., 2009 [PubMed 19481526]).[supplied by OMIM, Oct 2009]
PHENOTYPE: Homozygous null mice are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,415,818 (GRCm39) Y637F possibly damaging Het
Abcc4 A G 14: 118,753,912 (GRCm39) I1025T probably damaging Het
Adam22 C A 5: 8,217,375 (GRCm39) R140L probably damaging Het
Ahdc1 C A 4: 132,790,003 (GRCm39) L415I possibly damaging Het
Ahdc1 T A 4: 132,790,004 (GRCm39) L415H probably damaging Het
Bivm C A 1: 44,176,159 (GRCm39) S305* probably null Het
Clca4b C T 3: 144,617,800 (GRCm39) D768N probably benign Het
Cobl T A 11: 12,319,602 (GRCm39) N31Y probably damaging Het
Col4a5 G A X: 140,392,846 (GRCm39) C484Y unknown Het
Ctnnd1 T C 2: 84,450,253 (GRCm39) probably benign Het
Dnah5 A G 15: 28,383,771 (GRCm39) T2998A probably benign Het
Dnah9 T A 11: 65,772,445 (GRCm39) probably benign Het
F2 T C 2: 91,456,087 (GRCm39) D558G probably damaging Het
Gle1 T A 2: 29,839,240 (GRCm39) W511R probably damaging Het
Gm11564 C T 11: 99,705,953 (GRCm39) S159N unknown Het
Htr6 A G 4: 138,801,745 (GRCm39) C110R probably damaging Het
Itgae T C 11: 73,005,693 (GRCm39) F286L probably damaging Het
Kcnb2 A T 1: 15,780,730 (GRCm39) H534L probably damaging Het
Map1b T C 13: 99,569,544 (GRCm39) Y1059C unknown Het
Mul1 A G 4: 138,165,660 (GRCm39) T106A probably damaging Het
Nf2 T A 11: 4,741,209 (GRCm39) E249V probably damaging Het
Nlrp1a T C 11: 70,996,912 (GRCm39) S965G possibly damaging Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Optc T C 1: 133,829,799 (GRCm39) T204A probably damaging Het
Or51f1d T C 7: 102,701,345 (GRCm39) V280A probably benign Het
Or8k37 T C 2: 86,469,992 (GRCm39) N20S probably benign Het
Pcnx2 C T 8: 126,589,912 (GRCm39) R787Q probably damaging Het
Pim1 G A 17: 29,710,909 (GRCm39) E171K probably damaging Het
Pnpt1 T C 11: 29,088,162 (GRCm39) V191A probably damaging Het
Rbbp8 G A 18: 11,871,671 (GRCm39) R796Q probably benign Het
Serpinb9e A G 13: 33,435,633 (GRCm39) D22G possibly damaging Het
Sit1 C T 4: 43,482,831 (GRCm39) M109I probably benign Het
Slc17a8 A G 10: 89,412,446 (GRCm39) V329A probably benign Het
Smg1 T A 7: 117,748,156 (GRCm39) probably benign Het
Snx7 T A 3: 117,623,320 (GRCm39) probably benign Het
Stat2 A T 10: 128,112,480 (GRCm39) E40V probably damaging Het
Vegfa C T 17: 46,335,421 (GRCm39) S291N probably benign Het
Vmn1r61 G T 7: 5,614,288 (GRCm39) L9I probably benign Het
Wbp4 T C 14: 79,708,129 (GRCm39) K163E probably damaging Het
Other mutations in Ikbke
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Ikbke APN 1 131,197,749 (GRCm39) splice site probably null
IGL00703:Ikbke APN 1 131,183,039 (GRCm39) utr 3 prime probably benign
IGL01079:Ikbke APN 1 131,193,384 (GRCm39) missense possibly damaging 0.64
IGL01106:Ikbke APN 1 131,187,792 (GRCm39) splice site probably benign
IGL01336:Ikbke APN 1 131,201,493 (GRCm39) missense probably damaging 1.00
IGL01505:Ikbke APN 1 131,183,048 (GRCm39) missense probably benign 0.00
IGL01564:Ikbke APN 1 131,185,658 (GRCm39) missense probably benign 0.37
IGL01568:Ikbke APN 1 131,185,633 (GRCm39) splice site probably null
IGL01668:Ikbke APN 1 131,184,675 (GRCm39) missense probably benign 0.05
IGL01977:Ikbke APN 1 131,199,838 (GRCm39) splice site probably benign
IGL02162:Ikbke APN 1 131,201,452 (GRCm39) missense possibly damaging 0.69
IGL02653:Ikbke APN 1 131,199,572 (GRCm39) missense possibly damaging 0.89
triathelon UTSW 1 131,203,004 (GRCm39) frame shift probably null
R0028:Ikbke UTSW 1 131,199,921 (GRCm39) missense possibly damaging 0.87
R0427:Ikbke UTSW 1 131,185,647 (GRCm39) missense possibly damaging 0.62
R0607:Ikbke UTSW 1 131,197,921 (GRCm39) critical splice donor site probably null
R1295:Ikbke UTSW 1 131,197,963 (GRCm39) missense probably benign 0.03
R1470:Ikbke UTSW 1 131,204,224 (GRCm39) missense probably null 1.00
R1470:Ikbke UTSW 1 131,204,224 (GRCm39) missense probably null 1.00
R1720:Ikbke UTSW 1 131,186,947 (GRCm39) missense possibly damaging 0.94
R1728:Ikbke UTSW 1 131,197,560 (GRCm39) missense probably benign 0.00
R1728:Ikbke UTSW 1 131,193,674 (GRCm39) missense probably benign 0.01
R1729:Ikbke UTSW 1 131,197,560 (GRCm39) missense probably benign 0.00
R1729:Ikbke UTSW 1 131,193,674 (GRCm39) missense probably benign 0.01
R1730:Ikbke UTSW 1 131,197,560 (GRCm39) missense probably benign 0.00
R1730:Ikbke UTSW 1 131,193,674 (GRCm39) missense probably benign 0.01
R1739:Ikbke UTSW 1 131,193,674 (GRCm39) missense probably benign 0.01
R1739:Ikbke UTSW 1 131,197,560 (GRCm39) missense probably benign 0.00
R1748:Ikbke UTSW 1 131,186,937 (GRCm39) missense probably benign 0.02
R1762:Ikbke UTSW 1 131,193,674 (GRCm39) missense probably benign 0.01
R1762:Ikbke UTSW 1 131,197,560 (GRCm39) missense probably benign 0.00
R1763:Ikbke UTSW 1 131,193,614 (GRCm39) missense probably benign 0.01
R1783:Ikbke UTSW 1 131,197,560 (GRCm39) missense probably benign 0.00
R1783:Ikbke UTSW 1 131,193,674 (GRCm39) missense probably benign 0.01
R1784:Ikbke UTSW 1 131,197,560 (GRCm39) missense probably benign 0.00
R1784:Ikbke UTSW 1 131,193,674 (GRCm39) missense probably benign 0.01
R1785:Ikbke UTSW 1 131,197,560 (GRCm39) missense probably benign 0.00
R1785:Ikbke UTSW 1 131,193,674 (GRCm39) missense probably benign 0.01
R1794:Ikbke UTSW 1 131,186,955 (GRCm39) missense probably damaging 1.00
R2143:Ikbke UTSW 1 131,201,211 (GRCm39) missense probably damaging 0.98
R2144:Ikbke UTSW 1 131,201,211 (GRCm39) missense probably damaging 0.98
R2145:Ikbke UTSW 1 131,201,211 (GRCm39) missense probably damaging 0.98
R2386:Ikbke UTSW 1 131,187,003 (GRCm39) missense probably damaging 1.00
R2893:Ikbke UTSW 1 131,197,961 (GRCm39) missense probably damaging 1.00
R4210:Ikbke UTSW 1 131,191,085 (GRCm39) missense probably damaging 0.97
R4211:Ikbke UTSW 1 131,191,085 (GRCm39) missense probably damaging 0.97
R4284:Ikbke UTSW 1 131,203,515 (GRCm39) critical splice donor site probably null
R4461:Ikbke UTSW 1 131,193,659 (GRCm39) missense probably benign
R4551:Ikbke UTSW 1 131,185,770 (GRCm39) intron probably benign
R4560:Ikbke UTSW 1 131,199,857 (GRCm39) missense probably damaging 1.00
R4849:Ikbke UTSW 1 131,203,004 (GRCm39) frame shift probably null
R4855:Ikbke UTSW 1 131,184,848 (GRCm39) splice site probably null
R4876:Ikbke UTSW 1 131,203,004 (GRCm39) frame shift probably null
R4879:Ikbke UTSW 1 131,203,004 (GRCm39) frame shift probably null
R4967:Ikbke UTSW 1 131,203,004 (GRCm39) frame shift probably null
R4968:Ikbke UTSW 1 131,203,004 (GRCm39) frame shift probably null
R4971:Ikbke UTSW 1 131,203,004 (GRCm39) frame shift probably null
R5020:Ikbke UTSW 1 131,201,397 (GRCm39) missense probably damaging 1.00
R5699:Ikbke UTSW 1 131,204,204 (GRCm39) critical splice donor site probably null
R5814:Ikbke UTSW 1 131,199,516 (GRCm39) missense probably damaging 0.96
R6392:Ikbke UTSW 1 131,202,883 (GRCm39) splice site probably null
R6492:Ikbke UTSW 1 131,186,955 (GRCm39) missense probably damaging 1.00
R6899:Ikbke UTSW 1 131,203,499 (GRCm39) missense probably damaging 1.00
R7552:Ikbke UTSW 1 131,199,887 (GRCm39) nonsense probably null
R7583:Ikbke UTSW 1 131,204,216 (GRCm39) missense probably damaging 0.99
R7652:Ikbke UTSW 1 131,199,569 (GRCm39) missense probably damaging 1.00
R7806:Ikbke UTSW 1 131,199,635 (GRCm39) missense probably damaging 1.00
R7984:Ikbke UTSW 1 131,203,523 (GRCm39) missense probably null 1.00
R8211:Ikbke UTSW 1 131,199,515 (GRCm39) missense probably damaging 0.96
R8309:Ikbke UTSW 1 131,191,065 (GRCm39) nonsense probably null
R9012:Ikbke UTSW 1 131,201,190 (GRCm39) missense probably damaging 0.97
R9176:Ikbke UTSW 1 131,191,025 (GRCm39) missense probably benign 0.01
R9466:Ikbke UTSW 1 131,193,445 (GRCm39) missense probably damaging 0.96
R9483:Ikbke UTSW 1 131,198,719 (GRCm39) missense probably damaging 1.00
R9643:Ikbke UTSW 1 131,187,022 (GRCm39) critical splice acceptor site probably null
X0026:Ikbke UTSW 1 131,185,723 (GRCm39) missense probably benign
Posted On 2015-12-18