Mutagenetix > Incidental Mutation

Incidental Mutation 'R7583:Ikbke'

586842

Institutional Source

Beutler Lab

Gene Symbol

Ikbke

Ensembl Gene

ENSMUSG00000042349

Gene Name

inhibitor of kappaB kinase epsilon

Synonyms

IKKepsilon, IKK-i

MMRRC Submission

045666-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7583 (G1)

Quality Score

195.009

Status

Validated

Chromosome

Chromosomal Location

131182337-131207339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 131204216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 26 (A26T)

Ref Sequence

ENSEMBL: ENSMUSP00000054126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062108] [ENSMUST00000159195] [ENSMUST00000161764]

AlphaFold

Q9R0T8

Predicted Effect

probably damaging
Transcript: ENSMUST00000062108
AA Change: A26T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054126
Gene: ENSMUSG00000042349
AA Change: A26T

Domain	Start	End	E-Value	Type
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: A26T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124486
Gene: ENSMUSG00000042349
AA Change: A26T

Domain	Start	End	E-Value	Type
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: A26T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124190
Gene: ENSMUSG00000042349
AA Change: A26T

Domain	Start	End	E-Value	Type
Pfam:Pkinase	49	278	9.3e-31	PFAM
Pfam:Pkinase_Tyr	50	226	5.7e-17	PFAM

Meta Mutation Damage Score

0.4573

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (95/96)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,569,670 (GRCm39)	D462V	probably damaging	Het
Abcc1	T	C	16: 14,221,902 (GRCm39)	W222R	probably damaging	Het
Adamts13	A	G	2: 26,863,965 (GRCm39)	K48E	probably benign	Het
Adgrd1	A	C	5: 129,256,652 (GRCm39)	T674P	probably benign	Het
Agbl4	A	T	4: 110,976,150 (GRCm39)	Y169F	possibly damaging	Het
Ahnak	T	A	19: 8,983,457 (GRCm39)	N1580K	possibly damaging	Het
Angptl8	A	C	9: 21,747,210 (GRCm39)		probably null	Het
Ap3d1	G	A	10: 80,545,292 (GRCm39)	T1053I	probably benign	Het
Atad2	T	C	15: 57,990,060 (GRCm39)	T139A	probably benign	Het
Bdp1	T	A	13: 100,186,320 (GRCm39)	T1711S	probably damaging	Het
Bod1l	T	C	5: 41,991,133 (GRCm39)	I141V	probably damaging	Het
Cavin2	A	T	1: 51,328,777 (GRCm39)	N78I	possibly damaging	Het
Ccnb1	T	C	13: 100,916,262 (GRCm39)	H406R	probably benign	Het
Cd200r4	A	G	16: 44,653,784 (GRCm39)	T194A	probably damaging	Het
Cdt1	G	A	8: 123,296,995 (GRCm39)	R263H	probably damaging	Het
Cep85l	A	T	10: 53,157,450 (GRCm39)	I751N	probably damaging	Het
Clasp2	A	G	9: 113,737,755 (GRCm39)	D1043G	probably benign	Het
Cmip	A	T	8: 118,181,691 (GRCm39)	N578I	probably damaging	Het
Col2a1	T	G	15: 97,874,065 (GRCm39)	K1440N	unknown	Het
Cpne2	A	T	8: 95,282,209 (GRCm39)	M252L	probably benign	Het
Crb2	A	G	2: 37,680,607 (GRCm39)	T512A	probably benign	Het
Csmd1	A	G	8: 16,048,833 (GRCm39)	Y2290H	probably damaging	Het
Ctnnd1	A	T	2: 84,442,405 (GRCm39)	D642E	probably damaging	Het
Ctns	A	G	11: 73,079,296 (GRCm39)	S141P	probably benign	Het
Cwh43	A	G	5: 73,591,632 (GRCm39)	Q575R	probably benign	Het
Cyp2b19	C	A	7: 26,458,489 (GRCm39)	T68K	probably damaging	Het
Dcaf6	A	G	1: 165,160,879 (GRCm39)	S849P	probably damaging	Het
Dnm3	T	A	1: 162,305,343 (GRCm39)	Q17L	possibly damaging	Het
Enpp3	A	T	10: 24,711,990 (GRCm39)	M1K	probably null	Het
Fam124a	T	A	14: 62,844,008 (GRCm39)	C505*	probably null	Het
Fhip2a	T	A	19: 57,367,034 (GRCm39)	D192E	probably benign	Het
Fsip2	A	G	2: 82,805,585 (GRCm39)	I635V	probably benign	Het
Gm5878	A	T	6: 85,095,682 (GRCm39)		probably null	Het
Gpld1	C	A	13: 25,159,743 (GRCm39)	A437D	probably damaging	Het
Grk5	G	T	19: 61,071,642 (GRCm39)	V401L	possibly damaging	Het
Gucy2g	A	T	19: 55,224,047 (GRCm39)	L259Q	probably damaging	Het
Habp2	T	A	19: 56,300,236 (GRCm39)	D191E	probably benign	Het
Helz2	T	A	2: 180,879,365 (GRCm39)	H751L	probably benign	Het
Hgsnat	A	G	8: 26,461,592 (GRCm39)		probably null	Het
Hivep1	T	A	13: 42,317,716 (GRCm39)	V2064E	probably damaging	Het
Ivd	C	A	2: 118,692,612 (GRCm39)	D37E	probably damaging	Het
Kif26b	G	A	1: 178,358,010 (GRCm39)	W40*	probably null	Het
Klrc2	A	G	6: 129,636,274 (GRCm39)	S114P	probably damaging	Het
Lama1	A	T	17: 68,068,616 (GRCm39)	T772S		Het
Lamc1	T	A	1: 153,118,978 (GRCm39)	K880N	possibly damaging	Het
Lmf1	G	A	17: 25,874,423 (GRCm39)	D12N		Het
Lpin2	G	T	17: 71,538,391 (GRCm39)	E384*	probably null	Het
Lrrc23	T	C	6: 124,756,541 (GRCm39)		probably benign	Het
Lrrc31	T	C	3: 30,745,248 (GRCm39)		probably null	Het
Luc7l2	A	G	6: 38,528,820 (GRCm39)	Q13R	probably damaging	Het
Ly6c1	G	T	15: 74,920,346 (GRCm39)	H5Q	probably damaging	Het
Lyst	A	T	13: 13,810,472 (GRCm39)	H714L	probably damaging	Het
Man2a2	C	T	7: 80,016,692 (GRCm39)	R374H	probably damaging	Het
Mchr1	A	T	15: 81,121,642 (GRCm39)	T131S	probably benign	Het
Msto1	T	C	3: 88,820,236 (GRCm39)		probably null	Het
Myh1	C	T	11: 67,111,739 (GRCm39)	T1698I	probably benign	Het
Ncapd3	G	T	9: 26,983,144 (GRCm39)	C964F	probably damaging	Het
Nefh	T	C	11: 4,891,089 (GRCm39)	E510G	probably damaging	Het
Or10g3b	T	C	14: 52,587,360 (GRCm39)	T48A	possibly damaging	Het
Or13a24	A	G	7: 140,154,123 (GRCm39)	E19G	probably benign	Het
Or1b1	A	T	2: 36,995,539 (GRCm39)	L41*	probably null	Het
Or1q1	A	C	2: 36,887,092 (GRCm39)	K90T	probably damaging	Het
Or4a73	A	T	2: 89,421,095 (GRCm39)	Y121*	probably null	Het
P4ha1	T	A	10: 59,205,462 (GRCm39)	S497R	probably benign	Het
Palb2	T	C	7: 121,726,565 (GRCm39)	D435G	probably benign	Het
Papola	C	T	12: 105,777,304 (GRCm39)	P282L	probably damaging	Het
Pcdhgb1	A	G	18: 37,815,377 (GRCm39)	R623G	probably damaging	Het
Pcolce	T	G	5: 137,605,707 (GRCm39)	K229Q	probably benign	Het
Pkhd1l1	T	C	15: 44,431,760 (GRCm39)		probably null	Het
Ppp6r3	T	A	19: 3,540,790 (GRCm39)	T443S	probably benign	Het
Pramel58	A	T	5: 94,830,753 (GRCm39)	T84S	possibly damaging	Het
Psg20	T	A	7: 18,416,408 (GRCm39)	D236V	probably damaging	Het
Ptgr2	T	G	12: 84,355,179 (GRCm39)	S304R	probably damaging	Het
Ptpn22	A	T	3: 103,809,430 (GRCm39)	D681V	probably benign	Het
Rab3gap1	T	C	1: 127,858,612 (GRCm39)	S574P	probably benign	Het
Slc36a1	A	G	11: 55,104,754 (GRCm39)		probably null	Het
Slc9a5	A	G	8: 106,089,904 (GRCm39)	S621G	possibly damaging	Het
Sntg1	A	G	1: 8,515,249 (GRCm39)		probably null	Het
Snx17	A	G	5: 31,353,877 (GRCm39)	N222D	possibly damaging	Het
Spata19	G	T	9: 27,311,729 (GRCm39)	S116I	possibly damaging	Het
Spn	G	A	7: 126,736,234 (GRCm39)	A91V	probably damaging	Het
Srrm3	T	C	5: 135,881,135 (GRCm39)	V145A	probably benign	Het
St7	A	T	6: 17,942,753 (GRCm39)	T575S	possibly damaging	Het
Taf2	A	T	15: 54,928,072 (GRCm39)	Y110*	probably null	Het
Tcf20	T	C	15: 82,739,477 (GRCm39)	E658G	possibly damaging	Het
Tdrd6	G	T	17: 43,935,129 (GRCm39)	A1973E	probably benign	Het
Tg	T	G	15: 66,636,267 (GRCm39)	L2237W	probably damaging	Het
Ticrr	C	A	7: 79,346,487 (GRCm39)	Y1882*	probably null	Het
Trim45	T	A	3: 100,832,339 (GRCm39)	C191S	probably damaging	Het
Upf3a	G	A	8: 13,835,889 (GRCm39)		probably null	Het
Vmn2r42	A	T	7: 8,197,740 (GRCm39)	L293*	probably null	Het
Vmn2r62	T	A	7: 42,437,466 (GRCm39)	Q339H	possibly damaging	Het
Wdr24	A	T	17: 26,044,804 (GRCm39)	R220W	probably null	Het
Wdr5	T	A	2: 27,408,787 (GRCm39)	S22T	probably benign	Het
Zfp37	G	A	4: 62,110,253 (GRCm39)		probably benign	Het
Zfp735	A	T	11: 73,601,933 (GRCm39)	L292F	possibly damaging	Het
Zfp985	T	A	4: 147,667,946 (GRCm39)	C271*	probably null	Het
Zranb1	G	A	7: 132,585,625 (GRCm39)	R691Q	probably benign	Het

Other mutations in Ikbke

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CTAGTCCCAACATGCCTCTG -3'
(R):5'- TGGCTGGCTATCAGTGTCTAC -3'

Sequencing Primer
(F):5'- GAGGCACCATTCCAAGGAATTTTTC -3'
(R):5'- CAGTGTCTACTGCAGGTAAGAC -3'

Posted On

2019-10-24