Mutagenetix > Incidental Mutation

Incidental Mutation 'R8211:Ikbke'

636152

Institutional Source

Beutler Lab

Gene Symbol

Ikbke

Ensembl Gene

ENSMUSG00000042349

Gene Name

inhibitor of kappaB kinase epsilon

Synonyms

IKKepsilon, IKK-i

MMRRC Submission

067634-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8211 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131182337-131207339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131199515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 326 (I326T)

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: I326T

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000054126
Gene: ENSMUSG00000042349
AA Change: I326T

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 benign
Transcript: ENSMUST00000159195

SMART Domains

Protein: ENSMUSP00000124486
Gene: ENSMUSG00000042349

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: I302T

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124190
Gene: ENSMUSG00000042349
AA Change: I302T

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

0.2064

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (43/43)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330017A19Rik	A	G	17: 47,201,309 (GRCm39)		probably benign	Het
Adamtsl3	T	C	7: 82,172,371 (GRCm39)	S445P	probably damaging	Het
Afp	T	C	5: 90,649,345 (GRCm39)	I304T	possibly damaging	Het
Alk	G	A	17: 72,176,702 (GRCm39)	A1534V	probably benign	Het
Ank3	C	T	10: 69,703,228 (GRCm39)	P287L	unknown	Het
Appl1	T	C	14: 26,667,555 (GRCm39)	I367V	probably benign	Het
Arpin	T	A	7: 79,584,992 (GRCm39)	M1L	probably damaging	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
B430203G13Rik	A	T	12: 17,974,540 (GRCm39)	H82L	noncoding transcript	Het
Bcl11a	T	A	11: 24,028,394 (GRCm39)	S2T	probably damaging	Het
Cfap299	A	G	5: 98,477,294 (GRCm39)	I28V	possibly damaging	Het
Cfap46	T	A	7: 139,213,220 (GRCm39)	M1605L	unknown	Het
Chga	C	A	12: 102,527,678 (GRCm39)	Q111K	possibly damaging	Het
Drc7	A	G	8: 95,782,707 (GRCm39)	E24G	unknown	Het
Dst	T	C	1: 34,251,532 (GRCm39)	L2195P	probably damaging	Het
Enpp5	G	A	17: 44,392,402 (GRCm39)		probably null	Het
Fat2	A	G	11: 55,203,035 (GRCm39)	L13P	possibly damaging	Het
Grhl1	T	C	12: 24,636,151 (GRCm39)		probably null	Het
Krt26	C	T	11: 99,226,110 (GRCm39)	D195N	probably damaging	Het
Lamc2	A	T	1: 153,042,024 (GRCm39)	C37S	probably damaging	Het
Lrriq1	A	G	10: 103,006,408 (GRCm39)	L1239P	probably damaging	Het
Mrps5	T	A	2: 127,445,644 (GRCm39)	H390Q	probably benign	Het
Nphp3	T	A	9: 103,909,096 (GRCm39)	C769S	possibly damaging	Het
Obscn	A	G	11: 59,006,620 (GRCm39)	S1181P	probably damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pabpc6	G	T	17: 9,888,386 (GRCm39)	A55E	probably damaging	Het
Pcdha9	A	T	18: 37,131,912 (GRCm39)	E327V	possibly damaging	Het
Pds5b	A	G	5: 150,652,407 (GRCm39)	T225A	possibly damaging	Het
Pi4ka	A	C	16: 17,100,769 (GRCm39)	I1807S		Het
Pick1	T	A	15: 79,132,930 (GRCm39)	I330N	probably damaging	Het
Rbm46	C	T	3: 82,772,775 (GRCm39)	R119Q	probably benign	Het
Rubcn	A	C	16: 32,656,913 (GRCm39)	C502W	possibly damaging	Het
Slc26a10	G	A	10: 127,009,834 (GRCm39)	R571C	probably benign	Het
Slc44a2	A	T	9: 21,259,434 (GRCm39)	N587Y	probably damaging	Het
Slfn2	T	G	11: 82,960,585 (GRCm39)	V188G	possibly damaging	Het
Smok2b	T	C	17: 13,454,680 (GRCm39)	V280A	probably benign	Het
Snx19	A	G	9: 30,348,761 (GRCm39)	E798G	probably benign	Het
Sspo	T	C	6: 48,469,543 (GRCm39)		probably null	Het
Ugt2b37	T	C	5: 87,390,235 (GRCm39)	I404V	probably benign	Het
Vmn1r160	T	C	7: 22,570,751 (GRCm39)	F35L	possibly damaging	Het
Vmn1r193	A	T	13: 22,403,286 (GRCm39)	Y235*	probably null	Het
Vmn2r53	T	C	7: 12,315,843 (GRCm39)	I659V	probably benign	Het
Vmn2r91	A	G	17: 18,326,762 (GRCm39)	D349G	probably damaging	Het
Zfp292	A	T	4: 34,806,163 (GRCm39)	S2299T	probably benign	Het
Zfp938	T	C	10: 82,062,419 (GRCm39)	N67S	possibly 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
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
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
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'- TGCCAGCTAGCATTGGGAAG -3'
(R):5'- GTTCCATCTAGACGCTTGGG -3'

Sequencing Primer
(F):5'- CATTGGGAAGAGTGGGGGATTC -3'
(R):5'- GCTCTGACAGTCCTCGTG -3'

Posted On

2020-07-13