Incidental Mutation 'R7984:Ikbke'
ID 651349
Institutional Source Beutler Lab
Gene Symbol Ikbke
Ensembl Gene ENSMUSG00000042349
Gene Name inhibitor of kappaB kinase epsilon
Synonyms IKKepsilon, IKK-i
MMRRC Submission 046025-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7984 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 131182337-131207339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 131203523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 50 (E50V)
Ref Sequence ENSEMBL: ENSMUSP00000054126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062108] [ENSMUST00000159195] [ENSMUST00000161764]
AlphaFold Q9R0T8
Predicted Effect probably null
Transcript: ENSMUST00000062108
AA Change: E50V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054126
Gene: ENSMUSG00000042349
AA Change: E50V

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
AA Change: E50V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124486
Gene: ENSMUSG00000042349
AA Change: E50V

DomainStartEndE-ValueType
Pfam:Pkinase 9 130 2.2e-23 PFAM
Pfam:Pkinase_Tyr 9 130 2.1e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161764
AA Change: E50V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124190
Gene: ENSMUSG00000042349
AA Change: E50V

DomainStartEndE-ValueType
Pfam:Pkinase 49 278 9.3e-31 PFAM
Pfam:Pkinase_Tyr 50 226 5.7e-17 PFAM
Meta Mutation Damage Score 0.8077 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (58/58)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1e1 G T 13: 4,645,679 (GRCm39) H226N probably damaging Het
Aldh1a7 T C 19: 20,686,764 (GRCm39) D283G probably damaging Het
Angel1 T C 12: 86,767,068 (GRCm39) D436G probably benign Het
Ank1 G A 8: 23,578,982 (GRCm39) R314Q probably damaging Het
Apbb2 T C 5: 66,465,035 (GRCm39) E629G probably damaging Het
Card9 T G 2: 26,246,784 (GRCm39) I355L probably benign Het
Cdon C T 9: 35,414,598 (GRCm39) P1158S probably benign Het
Cpne7 T G 8: 123,846,461 (GRCm39) V91G possibly damaging Het
Dlc1 T A 8: 37,405,472 (GRCm39) T106S possibly damaging Het
Dnah1 A T 14: 30,989,772 (GRCm39) F3248Y probably damaging Het
Dnah7a A T 1: 53,543,377 (GRCm39) D2264E probably benign Het
Dock7 A T 4: 98,877,303 (GRCm39) N1078K unknown Het
Emc1 T A 4: 139,102,760 (GRCm39) L973H probably damaging Het
Fer1l5 T A 1: 36,447,702 (GRCm39) L955Q possibly damaging Het
Fpr-rs7 T C 17: 20,333,671 (GRCm39) N273S probably benign Het
Gle1 T A 2: 29,828,588 (GRCm39) Y137N probably damaging Het
Grik4 G A 9: 42,582,557 (GRCm39) Q130* probably null Het
Hcn1 C T 13: 118,112,609 (GRCm39) Q858* probably null Het
Heg1 A C 16: 33,583,945 (GRCm39) S76R possibly damaging Het
Itga5 G A 15: 103,264,379 (GRCm39) P297S probably damaging Het
Kcng1 C A 2: 168,104,406 (GRCm39) R480L possibly damaging Het
Kdm3b G T 18: 34,956,752 (GRCm39) E1236* probably null Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Lrp5 A G 19: 3,662,342 (GRCm39) F894L probably damaging Het
Lrrk1 T C 7: 65,950,477 (GRCm39) probably null Het
Man2a2 T G 7: 80,003,056 (GRCm39) T1018P probably damaging Het
Mctp2 T C 7: 71,752,937 (GRCm39) Q772R possibly damaging Het
Meioc T A 11: 102,565,432 (GRCm39) N293K possibly damaging Het
Mrps24 A T 11: 5,657,495 (GRCm39) C34S possibly damaging Het
Nek1 G T 8: 61,574,087 (GRCm39) E1112* probably null Het
Nt5dc2 A G 14: 30,860,775 (GRCm39) S317G probably damaging Het
Obscn G T 11: 58,997,151 (GRCm39) Q1492K possibly damaging Het
Or2a57 T G 6: 43,212,730 (GRCm39) S63A probably damaging Het
Or52e4 T C 7: 104,705,639 (GRCm39) F62S probably damaging Het
Or6c69 A G 10: 129,747,941 (GRCm39) F69L probably benign Het
Or8b36 A G 9: 37,937,155 (GRCm39) T18A probably damaging Het
Or9m1b T A 2: 87,836,969 (GRCm39) N42I probably damaging Het
Or9s23 A G 1: 92,501,144 (GRCm39) I84V probably benign Het
P2ry12 T A 3: 59,125,022 (GRCm39) I218F probably damaging Het
Paip1 C T 13: 119,566,698 (GRCm39) Q11* probably null Het
Pcdhga3 C A 18: 37,809,549 (GRCm39) D667E probably benign Het
Pcnx2 T G 8: 126,485,865 (GRCm39) E1911A probably benign Het
Pibf1 T C 14: 99,459,063 (GRCm39) L678P probably damaging Het
Pira2 A T 7: 3,844,696 (GRCm39) F445Y probably benign Het
Prickle2 T C 6: 92,387,855 (GRCm39) T516A probably benign Het
Prl2c1 G A 13: 28,039,310 (GRCm39) probably null Het
Rnf112 A G 11: 61,340,306 (GRCm39) V656A possibly damaging Het
Siglecf A C 7: 43,004,655 (GRCm39) probably null Het
Slc24a1 A T 9: 64,856,811 (GRCm39) L32* probably null Het
Slc7a1 A G 5: 148,278,920 (GRCm39) V284A possibly damaging Het
Slco5a1 T A 1: 12,951,608 (GRCm39) H565L probably damaging Het
Slit2 A G 5: 48,333,465 (GRCm39) probably benign Het
Sulf1 A G 1: 12,929,497 (GRCm39) T255A probably benign Het
Tmem130 C T 5: 144,692,237 (GRCm39) G56R possibly damaging Het
Trmt1l A C 1: 151,311,489 (GRCm39) Q116H probably benign Het
Ttn A T 2: 76,554,094 (GRCm39) W30870R probably damaging Het
Unc13b A T 4: 43,173,973 (GRCm39) L1600F unknown Het
Vmn1r233 C T 17: 21,214,417 (GRCm39) V178M probably damaging Het
Vmn2r18 G A 5: 151,485,526 (GRCm39) P656L probably damaging Het
Vmn2r33 A T 7: 7,566,862 (GRCm39) D83E probably benign Het
Vps13b G A 15: 35,880,059 (GRCm39) V3045I probably benign Het
Wdr25 A T 12: 108,976,983 (GRCm39) probably null Het
Xpo6 A G 7: 125,719,616 (GRCm39) V591A 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
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
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'- AATCAATGCCTCTGGACTGC -3'
(R):5'- TCACTTCCAAGCTGCTCGAG -3'

Sequencing Primer
(F):5'- CAATGCCTCTGGACTGCTGATG -3'
(R):5'- TGCTGATGTGAGCCCACC -3'
Posted On 2020-09-15