Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01668:Ikbke'

103367

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 #

IGL01668

Quality Score

Status

Chromosome

Chromosomal Location

131182337-131207339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 131184675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 666 (D666A)

Ref Sequence

ENSEMBL: ENSMUSP00000124190 (fasta)

Gene Model

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

AlphaFold

Q9R0T8

Predicted Effect

probably benign
Transcript: ENSMUST00000062108
AA Change: D690A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000054126
Gene: ENSMUSG00000042349
AA Change: D690A

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 benign
Transcript: ENSMUST00000161764
AA Change: D666A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000124190
Gene: ENSMUSG00000042349
AA Change: D666A

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3d1	A	G	10: 80,554,993 (GRCm39)	V444A	possibly damaging	Het
Chd9	A	T	8: 91,753,404 (GRCm39)	H1799L	possibly damaging	Het
Cic	C	T	7: 24,990,629 (GRCm39)	P1108S	possibly damaging	Het
Clba1	T	C	12: 112,773,264 (GRCm39)	S86P	probably damaging	Het
Cldn16	T	A	16: 26,301,296 (GRCm39)	Y201*	probably null	Het
Col6a6	C	A	9: 105,586,470 (GRCm39)	R1850S	probably damaging	Het
Cryge	A	G	1: 65,087,857 (GRCm39)	Y151H	probably damaging	Het
Dhcr7	T	A	7: 143,397,048 (GRCm39)	V180D	probably damaging	Het
Dmwd	C	T	7: 18,815,080 (GRCm39)	R577W	probably damaging	Het
Gm5884	A	G	6: 128,622,377 (GRCm39)		noncoding transcript	Het
Gm5901	C	T	7: 105,026,771 (GRCm39)	R180C	probably benign	Het
Hook2	A	T	8: 85,720,207 (GRCm39)	Y131F	possibly damaging	Het
Hsf1	T	C	15: 76,381,162 (GRCm39)		probably null	Het
Ighv1-62-3	A	G	12: 115,424,613 (GRCm39)		probably benign	Het
Il1r1	C	T	1: 40,352,489 (GRCm39)	T556I	probably benign	Het
Larp4	T	C	15: 99,885,355 (GRCm39)	S69P	probably damaging	Het
Lrrc27	G	T	7: 138,807,827 (GRCm39)		probably benign	Het
Marchf2	A	C	17: 33,922,070 (GRCm39)	W97G	probably damaging	Het
Or4c10b	C	A	2: 89,711,443 (GRCm39)	P91Q	probably benign	Het
Or5b21	A	G	19: 12,839,231 (GRCm39)	I31V	probably benign	Het
Or8k28	A	G	2: 86,285,746 (GRCm39)	Y290H	probably damaging	Het
Pah	T	A	10: 87,414,123 (GRCm39)	I324N	probably damaging	Het
Pcdhb7	A	G	18: 37,476,205 (GRCm39)	E447G	probably benign	Het
Prex2	T	C	1: 11,223,869 (GRCm39)	V731A	probably benign	Het
Prpsap2	A	G	11: 61,646,277 (GRCm39)	V44A	probably benign	Het
Rp1	T	C	1: 4,415,941 (GRCm39)	N1724D	probably damaging	Het
Sap130	A	G	18: 31,813,493 (GRCm39)	N517D	probably damaging	Het
Slc13a3	A	C	2: 165,272,212 (GRCm39)	F277C	probably damaging	Het
Snx19	A	G	9: 30,339,119 (GRCm39)	T86A	probably benign	Het
Tbc1d32	A	T	10: 55,999,673 (GRCm39)	V833D	probably benign	Het
Washc2	A	G	6: 116,239,299 (GRCm39)	D1290G	probably damaging	Het
Wdr87-ps	G	A	7: 29,236,855 (GRCm39)		noncoding transcript	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
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

2014-01-21