Incidental Mutation 'R4968:Ikbke'
ID 384161
Institutional Source Beutler Lab
Gene Symbol Ikbke
Ensembl Gene ENSMUSG00000042349
Gene Name inhibitor of kappaB kinase epsilon
Synonyms IKKepsilon, IKK-i
MMRRC Submission 042564-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4968 (G1)
Quality Score 217
Status Not validated
Chromosome 1
Chromosomal Location 131182337-131207339 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) GCC to G at 131203004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062108] [ENSMUST00000159195] [ENSMUST00000161764]
AlphaFold Q9R0T8
Predicted Effect probably null
Transcript: ENSMUST00000062108
AA Change: 79
SMART Domains Protein: ENSMUSP00000054126
Gene: ENSMUSG00000042349
AA Change: 79

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 9 249 1.1e-29 PFAM
Pfam:Pkinase 9 301 6.7e-47 PFAM
Predicted Effect probably null
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 probably null
Transcript: ENSMUST00000161764
SMART Domains Protein: ENSMUSP00000124190
Gene: ENSMUSG00000042349

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik A T 11: 58,769,616 (GRCm39) K53* probably null Het
4921513D11Rik T C 17: 79,935,651 (GRCm39) S255P probably benign Het
Ace A G 11: 105,872,679 (GRCm39) N367S possibly damaging Het
Agl A T 3: 116,582,175 (GRCm39) N282K probably benign Het
Ahnak C A 19: 8,992,464 (GRCm39) P4583T probably damaging Het
Alpi T C 1: 87,029,247 (GRCm39) D4G probably benign Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Aplnr T C 2: 84,967,289 (GRCm39) Y105H probably damaging Het
Arhgap9 G A 10: 127,162,875 (GRCm39) R395K possibly damaging Het
Asah1 A G 8: 41,807,067 (GRCm39) M119T Het
Atp5f1b T C 10: 127,919,856 (GRCm39) F75L probably damaging Het
B4galt6 G T 18: 20,861,026 (GRCm39) N75K possibly damaging Het
Bco1 A T 8: 117,857,833 (GRCm39) H486L probably benign Het
Btaf1 T A 19: 36,947,351 (GRCm39) L480Q probably null Het
Ccdc34 G T 2: 109,871,078 (GRCm39) probably null Het
Cdh19 T C 1: 110,852,958 (GRCm39) S326G probably benign Het
Cep89 A G 7: 35,109,055 (GRCm39) D178G possibly damaging Het
Cyp11b2 A T 15: 74,725,854 (GRCm39) probably null Het
Cyp21a1 A G 17: 35,022,383 (GRCm39) I157T possibly damaging Het
Dcbld2 A G 16: 58,245,074 (GRCm39) D116G probably damaging Het
Ddx5 T C 11: 106,674,953 (GRCm39) Q377R probably damaging Het
Deup1 T C 9: 15,503,724 (GRCm39) D279G probably damaging Het
F11 G A 8: 45,698,770 (GRCm39) A458V probably benign Het
Fhad1 C A 4: 141,645,618 (GRCm39) G326W probably damaging Het
Fhit C T 14: 10,421,522 (GRCm38) V26M probably damaging Het
Gjb5 A T 4: 127,250,015 (GRCm39) V43E probably damaging Het
Grtp1 A T 8: 13,242,184 (GRCm39) I75N probably damaging Het
Hmcn1 A G 1: 150,533,221 (GRCm39) I3022T possibly damaging Het
Hsp90ab1 T C 17: 45,881,962 (GRCm39) T166A probably benign Het
Ift70b T C 2: 75,768,391 (GRCm39) I121V probably benign Het
Iho1 C T 9: 108,289,713 (GRCm39) V170M probably benign Het
Kcnk10 T C 12: 98,401,161 (GRCm39) I491V probably benign Het
Kcp A T 6: 29,497,628 (GRCm39) C519* probably null Het
Lcmt2 T C 2: 120,970,217 (GRCm39) T69A probably benign Het
Lmf1 A G 17: 25,804,592 (GRCm39) Y90C probably damaging Het
Lpp A G 16: 24,798,064 (GRCm39) D612G probably damaging Het
Lrfn5 C A 12: 61,886,461 (GRCm39) S83Y probably damaging Het
Lrp1b T C 2: 40,592,719 (GRCm39) probably null Het
Lrp1b C T 2: 41,679,074 (GRCm39) C6Y probably damaging Het
Lrrc8c A G 5: 105,754,993 (GRCm39) D256G probably damaging Het
Mphosph10 A G 7: 64,032,656 (GRCm39) Y478H probably damaging Het
Mpp2 T C 11: 101,955,124 (GRCm39) H167R probably benign Het
Mtss1 A G 15: 58,815,767 (GRCm39) S598P probably damaging Het
Myh10 A G 11: 68,684,049 (GRCm39) E1154G probably damaging Het
Myo10 T C 15: 25,808,270 (GRCm39) V1218A probably damaging Het
Myo19 A G 11: 84,792,328 (GRCm39) K599R probably damaging Het
Neurl4 T C 11: 69,798,134 (GRCm39) M771T probably damaging Het
Nlrc4 A G 17: 74,753,936 (GRCm39) V149A probably benign Het
Nup133 A T 8: 124,641,935 (GRCm39) S843T probably benign Het
Or2y1c T C 11: 49,361,358 (GRCm39) C127R probably damaging Het
Or51k1 T C 7: 103,661,777 (GRCm39) N44S probably damaging Het
P3h2 A G 16: 25,811,412 (GRCm39) probably null Het
Piezo2 A T 18: 63,278,042 (GRCm39) Y287* probably null Het
Prob1 T C 18: 35,785,605 (GRCm39) Y883C probably damaging Het
Pxdn T A 12: 30,050,011 (GRCm39) H506Q probably benign Het
Ripor3 T C 2: 167,827,037 (GRCm39) D658G probably benign Het
Rufy1 T A 11: 50,301,434 (GRCm39) I333L probably benign Het
Selenok T A 14: 29,692,064 (GRCm39) V34E probably benign Het
Selplg T C 5: 113,957,787 (GRCm39) E173G possibly damaging Het
Septin10 A G 10: 59,016,943 (GRCm39) F194L probably damaging Het
Sptbn2 A T 19: 4,779,230 (GRCm39) probably null Het
St6galnac6 C T 2: 32,498,098 (GRCm39) P6S probably benign Het
Syngr2 T C 11: 117,704,296 (GRCm39) Y194H probably damaging Het
Thbs4 A G 13: 92,894,576 (GRCm39) I649T possibly damaging Het
Triobp T A 15: 78,850,816 (GRCm39) N323K probably benign Het
Tuba8 T A 6: 121,197,548 (GRCm39) L70Q probably damaging Het
Vmn2r61 A G 7: 41,949,478 (GRCm39) T633A probably benign Het
Zfp280b G T 10: 75,875,188 (GRCm39) V356L probably damaging Het
Zswim4 A T 8: 84,944,001 (GRCm39) V746D probably benign 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
IGL02859:Ikbke APN 1 131,197,934 (GRCm39) missense probably damaging 0.97
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 1 131,193,674 (GRCm39) missense probably benign 0.01
R1730:Ikbke UTSW 1 131,197,560 (GRCm39) missense probably benign 0.00
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 1 131,197,560 (GRCm39) missense probably benign 0.00
R1762:Ikbke UTSW 1 131,193,674 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- CACACGCATCCTGGACTTTG -3'
(R):5'- GGAAACTGGAATAAGTGCCCAATC -3'

Sequencing Primer
(F):5'- CATCCTGGACTTTGGCCATGG -3'
(R):5'- CCAATCAAAGAGGGCTTCTCGG -3'
Posted On 2016-04-27