Incidental Mutation 'R6899:Ikbke'
ID 540997
Institutional Source Beutler Lab
Gene Symbol Ikbke
Ensembl Gene ENSMUSG00000042349
Gene Name inhibitor of kappaB kinase epsilon
Synonyms IKKepsilon, IKK-i
MMRRC Submission 044993-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6899 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 131182337-131207339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 131203499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 58 (V58A)
Ref Sequence ENSEMBL: ENSMUSP00000124486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062108] [ENSMUST00000159195] [ENSMUST00000161764]
AlphaFold Q9R0T8
Predicted Effect probably damaging
Transcript: ENSMUST00000062108
AA Change: V58A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000054126
Gene: ENSMUSG00000042349
AA Change: V58A

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 9 249 1.1e-29 PFAM
Pfam:Pkinase 9 301 6.7e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159195
AA Change: V58A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124486
Gene: ENSMUSG00000042349
AA Change: V58A

DomainStartEndE-ValueType
Pfam:Pkinase 9 130 2.2e-23 PFAM
Pfam:Pkinase_Tyr 9 130 2.1e-17 PFAM
Predicted Effect probably benign
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
Meta Mutation Damage Score 0.1831 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.0%
  • 20x: 95.9%
Validation Efficiency 98% (56/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,126,264 (GRCm39) Y1140C probably damaging Het
Actl9 G A 17: 33,652,533 (GRCm39) G198S probably damaging Het
Adcy2 A T 13: 69,130,500 (GRCm39) M129K probably damaging Het
Apmap T A 2: 150,436,228 (GRCm39) I107F probably benign Het
Arrdc3 T C 13: 81,037,330 (GRCm39) I162T probably damaging Het
Asprv1 T C 6: 86,605,742 (GRCm39) L196P probably damaging Het
Atpsckmt A G 15: 31,617,257 (GRCm39) S163G probably benign Het
Bag2 A G 1: 33,785,912 (GRCm39) S137P possibly damaging Het
Borcs5 T A 6: 134,687,173 (GRCm39) M177K probably benign Het
C8b A T 4: 104,644,071 (GRCm39) K246M probably benign Het
Cdo1 A G 18: 46,856,407 (GRCm39) C76R probably damaging Het
Ces2b T A 8: 105,563,398 (GRCm39) probably null Het
Csf2rb G A 15: 78,224,902 (GRCm39) S194N probably benign Het
Dap3 A G 3: 88,840,907 (GRCm39) F77L probably benign Het
Dars1 A G 1: 128,341,483 (GRCm39) V44A possibly damaging Het
Dhtkd1 T A 2: 5,922,776 (GRCm39) D461V possibly damaging Het
Ero1a A C 14: 45,530,396 (GRCm39) H345Q probably benign Het
Fzd8 T A 18: 9,214,729 (GRCm39) S604T probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gramd1c T A 16: 43,860,505 (GRCm39) Y64F probably benign Het
Heatr5b T A 17: 79,110,938 (GRCm39) Y970F probably benign Het
Hoxc10 A G 15: 102,875,942 (GRCm39) E217G possibly damaging Het
Hsd17b14 A T 7: 45,212,352 (GRCm39) H128L possibly damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ifna9 A G 4: 88,510,300 (GRCm39) F108S probably damaging Het
Inpp5e G A 2: 26,290,060 (GRCm39) R462C possibly damaging Het
Junb A G 8: 85,704,353 (GRCm39) F236L probably benign Het
Klhl36 T C 8: 120,596,881 (GRCm39) V194A probably benign Het
Lsg1 A T 16: 30,400,906 (GRCm39) D134E probably benign Het
Megf8 G T 7: 25,060,138 (GRCm39) C2343F probably damaging Het
Mtres1 T C 10: 43,408,780 (GRCm39) E121G possibly damaging Het
Myom3 G A 4: 135,530,603 (GRCm39) G1172R probably damaging Het
Nasp A T 4: 116,461,530 (GRCm39) V548E probably damaging Het
Nubpl T A 12: 52,357,536 (GRCm39) S317T probably benign Het
Nup210l A G 3: 90,075,204 (GRCm39) D838G possibly damaging Het
Oxsr1 C T 9: 119,076,188 (GRCm39) A373T probably benign Het
Psat1 C T 19: 15,895,569 (GRCm39) probably null Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Slain1 C T 14: 103,888,215 (GRCm39) P45L possibly damaging Het
Slc16a8 A G 15: 79,137,949 (GRCm39) V20A possibly damaging Het
Slc22a13 A T 9: 119,025,473 (GRCm39) M145K probably damaging Het
Slc22a4 G A 11: 53,879,739 (GRCm39) T440I probably damaging Het
Slc39a12 C T 2: 14,394,352 (GRCm39) P74L probably damaging Het
Sod3 A G 5: 52,526,050 (GRCm39) T250A unknown Het
Syne2 A G 12: 76,142,503 (GRCm39) probably null Het
Tctn1 A G 5: 122,387,019 (GRCm39) Y299H probably damaging Het
Tfcp2l1 A G 1: 118,603,305 (GRCm39) M448V probably benign Het
Tfpi C T 2: 84,275,153 (GRCm39) G152S probably damaging Het
Thap4 A G 1: 93,678,691 (GRCm39) S32P probably damaging Het
Tmem132c T A 5: 127,628,744 (GRCm39) W549R probably damaging Het
Vmn2r29 T C 7: 7,244,641 (GRCm39) E411G probably damaging Het
Washc4 C A 10: 83,411,919 (GRCm39) D683E probably benign Het
Wdr3 A T 3: 100,057,217 (GRCm39) V462D possibly damaging Het
Wdr5b T C 16: 35,862,150 (GRCm39) S90P probably damaging Het
Zfp407 A G 18: 84,579,559 (GRCm39) L518P possibly damaging Het
Zfp53 A G 17: 21,728,707 (GRCm39) I247V possibly 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
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
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'- TTCCACACCCTTGAGTGTGG -3'
(R):5'- GAAGAAAAGATTGCAGCTCCTC -3'

Sequencing Primer
(F):5'- GTGGTGCTTGGTCCCTCC -3'
(R):5'- ATTGCAGCTCCTCAATAGGG -3'
Posted On 2018-11-28