Incidental Mutation 'R2145:Ikbke'
ID 233688
Institutional Source Beutler Lab
Gene Symbol Ikbke
Ensembl Gene ENSMUSG00000042349
Gene Name inhibitor of kappaB kinase epsilon
Synonyms IKKepsilon, IKK-i
MMRRC Submission 040148-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2145 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 131182337-131207339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 131201211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 176 (V176L)
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: V200L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054126
Gene: ENSMUSG00000042349
AA Change: V200L

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 probably damaging
Transcript: ENSMUST00000161764
AA Change: V176L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124190
Gene: ENSMUSG00000042349
AA Change: V176L

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 0.2648 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 97% (101/104)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 119,953,701 (GRCm39) N535S probably benign Het
Abcc6 A T 7: 45,648,165 (GRCm39) L717Q probably benign Het
Abraxas2 C A 7: 132,484,790 (GRCm39) Q278K probably benign Het
Acap2 A T 16: 30,924,342 (GRCm39) D637E probably benign Het
AI661453 A G 17: 47,777,023 (GRCm39) probably benign Het
Aoah A T 13: 21,024,266 (GRCm39) E74V probably damaging Het
Aoc1l1 A T 6: 48,953,629 (GRCm39) D518V probably damaging Het
Appl1 A G 14: 26,671,576 (GRCm39) L292S possibly damaging Het
Astl T A 2: 127,189,109 (GRCm39) V166E probably damaging Het
Bbs1 T G 19: 4,953,735 (GRCm39) K143Q possibly damaging Het
Bbx T C 16: 50,094,907 (GRCm39) probably benign Het
Birc6 A T 17: 74,967,408 (GRCm39) Q4103L possibly damaging Het
C1qtnf2 T G 11: 43,381,811 (GRCm39) F178V probably damaging Het
Camta2 A G 11: 70,562,401 (GRCm39) F999L probably benign Het
Cfap68 T C 9: 50,676,174 (GRCm39) Y32C probably damaging Het
Clcn7 A G 17: 25,363,425 (GRCm39) I34V probably benign Het
Cntn5 G T 9: 9,748,420 (GRCm39) P487Q probably damaging Het
Ctu2 T A 8: 123,205,891 (GRCm39) I213K probably benign Het
Des C A 1: 75,340,108 (GRCm39) probably benign Het
Dgcr8 A T 16: 18,098,094 (GRCm39) D432E probably benign Het
Dlgap5 G A 14: 47,633,380 (GRCm39) R549* probably null Het
Dmac2l A G 12: 69,787,828 (GRCm39) Q88R probably damaging Het
Dmxl2 T C 9: 54,323,194 (GRCm39) T1397A probably damaging Het
Dnmt1 T A 9: 20,848,451 (GRCm39) probably benign Het
Dstyk T A 1: 132,391,113 (GRCm39) M838K probably damaging Het
Dtwd1 C A 2: 126,001,904 (GRCm39) T208N probably damaging Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Dync1i2 T A 2: 71,044,907 (GRCm39) probably benign Het
Fer1l6 T A 15: 58,499,383 (GRCm39) M1251K probably benign Het
Fmod T C 1: 133,968,256 (GRCm39) Y99H probably benign Het
Fn1 A T 1: 71,645,163 (GRCm39) V1552D probably damaging Het
Fnip2 A T 3: 79,407,739 (GRCm39) S281T probably damaging Het
Glb1 A G 9: 114,293,233 (GRCm39) H536R probably benign Het
Glis2 T A 16: 4,431,506 (GRCm39) S344R possibly damaging Het
Gm4847 A T 1: 166,462,472 (GRCm39) S339R probably benign Het
Gpr155 A G 2: 73,187,002 (GRCm39) S44P probably benign Het
Gprin1 G A 13: 54,886,445 (GRCm39) P610S probably damaging Het
Gvin3 T A 7: 106,202,215 (GRCm39) H343L possibly damaging Het
H2-Ob A T 17: 34,461,554 (GRCm39) M98L probably benign Het
H3c6 T C 13: 23,746,530 (GRCm39) T4A probably benign Het
Hmcn2 T C 2: 31,223,943 (GRCm39) probably benign Het
Il13 T C 11: 53,523,351 (GRCm39) T85A possibly damaging Het
Inpp5k A T 11: 75,538,017 (GRCm39) probably null Het
Irgm2 T C 11: 58,111,355 (GRCm39) S361P possibly damaging Het
Itga11 C T 9: 62,639,486 (GRCm39) probably benign Het
Kalrn G T 16: 33,829,632 (GRCm39) probably benign Het
Kcng1 C A 2: 168,110,952 (GRCm39) G71C probably damaging Het
Kcnq5 T A 1: 21,575,573 (GRCm39) D291V probably damaging Het
Klhl7 A T 5: 24,305,861 (GRCm39) M37L probably benign Het
Letm1 A AG 5: 33,926,859 (GRCm39) probably null Het
Lhx6 C T 2: 35,977,478 (GRCm39) V325I probably benign Het
Lipc A G 9: 70,841,817 (GRCm39) I9T possibly damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mast1 C A 8: 85,648,107 (GRCm39) G458V probably damaging Het
Mga T C 2: 119,794,638 (GRCm39) V2565A possibly damaging Het
Mpzl2 C G 9: 44,955,471 (GRCm39) D127E probably benign Het
Mrtfb T C 16: 13,230,450 (GRCm39) I1045T probably damaging Het
Myh3 T A 11: 66,981,882 (GRCm39) C793S probably benign Het
Nomo1 T C 7: 45,715,928 (GRCm39) L765P probably damaging Het
Nup210 A G 6: 91,005,858 (GRCm39) I1335T possibly damaging Het
Or52b3 T C 7: 102,204,267 (GRCm39) probably null Het
Oxr1 T A 15: 41,683,340 (GRCm39) S254R probably damaging Het
Pan3 A G 5: 147,466,908 (GRCm39) I592V possibly damaging Het
Pask C T 1: 93,249,019 (GRCm39) A794T probably benign Het
Pex2 T C 3: 5,626,650 (GRCm39) E53G probably damaging Het
Pfkfb2 T C 1: 130,626,460 (GRCm39) T438A probably benign Het
Phactr4 T C 4: 132,098,095 (GRCm39) E391G probably damaging Het
Pira2 A T 7: 3,847,344 (GRCm39) L115Q probably damaging Het
Pkhd1l1 A T 15: 44,376,273 (GRCm39) probably null Het
Pnlip A G 19: 58,664,876 (GRCm39) S235G probably benign Het
Prkd1 A G 12: 50,536,694 (GRCm39) V130A possibly damaging Het
Ptpn13 A G 5: 103,703,999 (GRCm39) T1344A probably benign Het
Ptprc T C 1: 138,001,419 (GRCm39) Y780C probably damaging Het
Pxn T A 5: 115,690,815 (GRCm39) probably benign Het
Rap1gap2 G A 11: 74,316,802 (GRCm39) T245M probably damaging Het
Rc3h1 G T 1: 160,757,827 (GRCm39) K48N probably damaging Het
Rfwd3 T C 8: 112,009,245 (GRCm39) I444V probably benign Het
Rictor C T 15: 6,794,588 (GRCm39) R293C probably damaging Het
Rif1 T A 2: 52,001,412 (GRCm39) I1622N possibly damaging Het
Rnf213 T C 11: 119,306,019 (GRCm39) V609A probably benign Het
Scgb1b2 G T 7: 30,991,188 (GRCm39) probably benign Het
Serac1 A T 17: 6,101,060 (GRCm39) I448N probably damaging Het
Sh3kbp1 C A X: 158,607,492 (GRCm39) T200K probably benign Het
Sned1 T A 1: 93,199,406 (GRCm39) F495L probably damaging Het
Socs7 T C 11: 97,263,950 (GRCm39) F281L probably benign Het
Spta1 C T 1: 174,040,180 (GRCm39) L1214F probably benign Het
Ssu72 A G 4: 155,789,900 (GRCm39) E21G probably damaging Het
Syngr4 A G 7: 45,536,464 (GRCm39) V186A probably benign Het
Tars3 G A 7: 65,305,539 (GRCm39) M254I possibly damaging Het
Tmem130 C A 5: 144,680,595 (GRCm39) V270L probably benign Het
Trim66 A T 7: 109,074,320 (GRCm39) I647N probably damaging Het
Tspyl2 A T X: 151,121,890 (GRCm39) D572E probably benign Het
Unc45b G A 11: 82,808,580 (GRCm39) R222H probably benign Het
Uxs1 T C 1: 43,866,783 (GRCm39) Y29C probably damaging Het
Virma T A 4: 11,548,726 (GRCm39) probably benign Het
Vmn1r202 C T 13: 22,685,953 (GRCm39) G155S possibly damaging Het
Vmn2r24 T A 6: 123,755,972 (GRCm39) F15I probably benign Het
Wdr64 A G 1: 175,594,661 (GRCm39) T471A probably benign Het
Zfa-ps T A 10: 52,419,373 (GRCm39) noncoding transcript Het
Zfp260 A G 7: 29,804,765 (GRCm39) K222E probably damaging Het
Zfp300 A G X: 20,948,190 (GRCm39) S525P possibly damaging Het
Zfp821 A G 8: 110,450,979 (GRCm39) D324G probably damaging Het
Zfp934 T C 13: 62,665,648 (GRCm39) D331G probably damaging Het
Zscan29 T C 2: 121,000,587 (GRCm39) R7G 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
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
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
Predicted Primers PCR Primer
(F):5'- CAGGCTCTGTAACCTAAGCC -3'
(R):5'- ACCTGGTAAGTGACATGTTGG -3'

Sequencing Primer
(F):5'- GGCTCTGTAACCTAAGCCTTAATGG -3'
(R):5'- GACATGTTGGTGACCCTATGCC -3'
Posted On 2014-10-01