Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01568:Ikbke'

91072

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ikbke

Ensembl Gene

ENSMUSG00000042349

Gene Name

inhibitor of kappaB kinase epsilon

Synonyms

IKKepsilon, IKK-i

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01568

Quality Score

Status

Chromosome

Chromosomal Location

131182337-131207339 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to A at 131185633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124190 (fasta)

Gene Model

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

AlphaFold

Q9R0T8

Predicted Effect

probably null
Transcript: ENSMUST00000062108

SMART Domains

Protein: ENSMUSP00000054126
Gene: ENSMUSG00000042349

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

noncoding transcript
Transcript: ENSMUST00000160748

Predicted Effect

probably null
Transcript: ENSMUST00000161764

SMART Domains

Protein: ENSMUSP00000124190
Gene: ENSMUSG00000042349

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188115

Coding Region Coverage

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	A	7: 75,258,270 (GRCm39)	L298*	probably null	Het
Capn15	G	T	17: 26,184,419 (GRCm39)	R21S	probably damaging	Het
Cbs	A	G	17: 31,840,488 (GRCm39)	L290P	possibly damaging	Het
Dnah5	T	C	15: 28,229,798 (GRCm39)	I144T	probably benign	Het
Dok4	T	A	8: 95,593,430 (GRCm39)	I119F	probably benign	Het
Dpp9	T	C	17: 56,498,159 (GRCm39)	N599S	probably benign	Het
Ep400	T	C	5: 110,867,361 (GRCm39)	T984A	unknown	Het
Fcrl2	T	C	3: 87,163,986 (GRCm39)	N381S	probably damaging	Het
Fhod3	A	G	18: 25,253,219 (GRCm39)	I1390V	probably benign	Het
Gabbr1	A	G	17: 37,381,561 (GRCm39)	Y775C	probably damaging	Het
Gimap9	A	G	6: 48,654,550 (GRCm39)	T46A	probably benign	Het
Gm3696	T	C	14: 18,435,020 (GRCm39)	N88S	probably benign	Het
Gm5277	A	G	3: 78,799,743 (GRCm39)		noncoding transcript	Het
Gpr153	C	A	4: 152,366,825 (GRCm39)		probably null	Het
Hgf	A	T	5: 16,769,812 (GRCm39)	K95N	probably damaging	Het
Igf2r	A	G	17: 12,902,872 (GRCm39)	S2393P	possibly damaging	Het
Il17re	G	T	6: 113,447,013 (GRCm39)	R588L	probably damaging	Het
Itch	T	C	2: 155,054,382 (GRCm39)		probably benign	Het
Krt1c	T	A	15: 101,721,646 (GRCm39)	D465V	probably damaging	Het
Krt28	G	T	11: 99,262,243 (GRCm39)	P249Q	probably damaging	Het
Lax1	A	T	1: 133,608,038 (GRCm39)	D234E	probably benign	Het
Mtmr3	A	G	11: 4,477,861 (GRCm39)	I61T	probably damaging	Het
Naip5	G	T	13: 100,353,609 (GRCm39)	Q1217K	probably benign	Het
Nt5dc3	A	G	10: 86,669,802 (GRCm39)	T466A	probably benign	Het
Or5bw2	A	T	7: 6,573,569 (GRCm39)	H193L	possibly damaging	Het
Or8s2	T	C	15: 98,276,787 (GRCm39)	D68G	probably damaging	Het
Pcdhb3	T	C	18: 37,435,054 (GRCm39)	V340A	possibly damaging	Het
Pclo	C	T	5: 14,728,443 (GRCm39)		probably benign	Het
Piezo2	C	T	18: 63,163,463 (GRCm39)	V2152I	probably benign	Het
Pip4k2b	A	T	11: 97,620,378 (GRCm39)		probably null	Het
Ptprs	G	A	17: 56,720,958 (GRCm39)	H1432Y	probably damaging	Het
Rars1	A	G	11: 35,716,808 (GRCm39)		probably benign	Het
Scrn1	A	G	6: 54,499,739 (GRCm39)		probably benign	Het
Sdr42e1	T	C	8: 118,390,182 (GRCm39)	Y153C	probably damaging	Het
Slc18a1	A	T	8: 69,518,278 (GRCm39)	S245R	probably damaging	Het
Spmip4	A	G	6: 50,550,678 (GRCm39)		probably benign	Het
Tns1	T	G	1: 73,992,668 (GRCm39)	D670A	probably damaging	Het
Trim16	T	A	11: 62,711,684 (GRCm39)	D118E	probably benign	Het
Trpv1	A	G	11: 73,129,269 (GRCm39)	D62G	probably benign	Het
Tyr	A	G	7: 87,087,156 (GRCm39)	L452P	probably damaging	Het
Ubr4	T	C	4: 139,148,684 (GRCm39)	C1723R	probably damaging	Het
Uqcrb	G	A	13: 67,049,459 (GRCm39)		probably benign	Het
Vax2	G	T	6: 83,688,519 (GRCm39)	V81L	possibly damaging	Het
Zan	A	G	5: 137,463,106 (GRCm39)	V691A	unknown	Het
Zfp335	A	G	2: 164,736,708 (GRCm39)	S976P	possibly damaging	Het
Zfp384	C	T	6: 125,001,095 (GRCm39)	P56S	probably damaging	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
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	131,197,560 (GRCm39)	missense	probably benign	0.00
R1730:Ikbke	UTSW	1	131,193,674 (GRCm39)	missense	probably benign	0.01
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	131,193,674 (GRCm39)	missense	probably benign	0.01
R1762:Ikbke	UTSW	1	131,197,560 (GRCm39)	missense	probably benign	0.00
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
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

Posted On

2013-12-09