Mutagenetix > Incidental Mutation

Incidental Mutation 'R2143:Ikbke'

236447

Institutional Source

Beutler Lab

Gene Symbol

Ikbke

Ensembl Gene

ENSMUSG00000042349

Gene Name

inhibitor of kappaB kinase epsilon

Synonyms

IKKepsilon, IKK-i

MMRRC Submission

040146-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2143 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

131182337-131207339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 131201211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 176 (V176L)

Ref Sequence

ENSEMBL: ENSMUSP00000124190 (fasta)

Gene Model

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

AlphaFold

Q9R0T8

Predicted Effect

probably damaging
Transcript: ENSMUST00000062108
AA Change: V200L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054126
Gene: ENSMUSG00000042349
AA Change: V200L

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: V176L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124190
Gene: ENSMUSG00000042349
AA Change: V176L

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: ENSMUST00000162285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163029

Meta Mutation Damage Score

0.2648

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	G	C	16: 88,556,053 (GRCm39)	S89T	probably benign	Het
4930522L14Rik	C	G	5: 109,884,616 (GRCm39)	C414S	probably damaging	Het
4930553M12Rik	G	A	4: 88,786,411 (GRCm39)	T69I	unknown	Het
4930553M12Rik	T	A	4: 88,786,412 (GRCm39)	T69S	unknown	Het
Apobr	G	A	7: 126,186,288 (GRCm39)	E600K	probably benign	Het
Armc8	C	A	9: 99,387,361 (GRCm39)	R419L	probably damaging	Het
Ash1l	T	A	3: 88,892,726 (GRCm39)	M1535K	probably benign	Het
Atf7ip2	A	G	16: 10,058,509 (GRCm39)	E316G	probably null	Het
Atp2a1	G	A	7: 126,047,897 (GRCm39)	R638*	probably null	Het
Atp8b4	A	T	2: 126,216,430 (GRCm39)	I672N	probably damaging	Het
Atrn	T	C	2: 130,799,916 (GRCm39)	V431A	probably benign	Het
Babam1	T	C	8: 71,851,084 (GRCm39)	S116P	probably damaging	Het
Ccdc142	T	C	6: 83,079,203 (GRCm39)	L180P	probably damaging	Het
Cd52	T	C	4: 133,821,048 (GRCm39)		probably benign	Het
Cdk17	T	C	10: 93,053,881 (GRCm39)	L125P	probably damaging	Het
Ckap5	A	G	2: 91,396,090 (GRCm39)	D531G	probably benign	Het
Cntn5	G	T	9: 9,748,420 (GRCm39)	P487Q	probably damaging	Het
Crispld1	C	T	1: 17,819,860 (GRCm39)	T286I	probably benign	Het
Crtap	T	C	9: 114,209,036 (GRCm39)	Y336C	probably damaging	Het
Ctu2	T	A	8: 123,205,891 (GRCm39)	I213K	probably benign	Het
Dmac2l	A	G	12: 69,787,828 (GRCm39)	Q88R	probably damaging	Het
Dsc3	A	G	18: 20,113,743 (GRCm39)	F393S	possibly damaging	Het
Dsg2	T	A	18: 20,712,218 (GRCm39)	I118N	probably damaging	Het
Dstyk	T	A	1: 132,391,113 (GRCm39)	M838K	probably damaging	Het
Elmo3	T	C	8: 106,035,305 (GRCm39)	V450A	probably damaging	Het
Eml5	A	C	12: 98,776,864 (GRCm39)	F1417C	probably damaging	Het
Enam	T	A	5: 88,640,779 (GRCm39)	M147K	probably benign	Het
Entpd1	T	C	19: 40,725,227 (GRCm39)	Y409H	probably damaging	Het
Extl1	C	A	4: 134,098,355 (GRCm39)	E225D	probably benign	Het
Fbn2	A	G	18: 58,186,065 (GRCm39)	V1761A	possibly damaging	Het
Fsip2	A	T	2: 82,820,615 (GRCm39)	L5449F	possibly damaging	Het
Gabra5	G	A	7: 57,138,763 (GRCm39)	T95I	probably damaging	Het
Gal3st2c	C	T	1: 93,937,173 (GRCm39)	Q373*	probably null	Het
Gbp5	A	C	3: 142,209,593 (GRCm39)	T180P	probably damaging	Het
Glb1	T	C	9: 114,266,892 (GRCm39)	L212P	probably damaging	Het
Gm11596	A	T	11: 99,683,789 (GRCm39)	C110*	probably null	Het
Gpat2	T	C	2: 127,275,682 (GRCm39)	F487L	probably damaging	Het
Hsph1	A	T	5: 149,554,951 (GRCm39)	H110Q	probably damaging	Het
Ildr2	T	C	1: 166,096,895 (GRCm39)	V38A	probably damaging	Het
Inpp4a	G	T	1: 37,426,827 (GRCm39)	C326F	probably damaging	Het
Irak2	T	A	6: 113,649,788 (GRCm39)	V141D	probably benign	Het
Jade1	G	A	3: 41,559,143 (GRCm39)	R408Q	probably benign	Het
Jmjd7	C	A	2: 119,860,601 (GRCm39)		probably null	Het
Kdm7a	C	T	6: 39,145,884 (GRCm39)	V348I	possibly damaging	Het
Kif20a	A	G	18: 34,758,657 (GRCm39)	D42G	possibly damaging	Het
Klhl7	A	T	5: 24,305,861 (GRCm39)	M37L	probably benign	Het
Krt5	A	G	15: 101,620,794 (GRCm39)	I151T	probably damaging	Het
Krtap1-5	T	C	11: 99,471,644 (GRCm39)	I50V	probably benign	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lrrc71	C	T	3: 87,652,828 (GRCm39)	W148*	probably null	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map1a	T	A	2: 121,132,426 (GRCm39)	S843T	probably damaging	Het
Map1s	T	A	8: 71,363,608 (GRCm39)	D48E	probably damaging	Het
Mast4	A	G	13: 102,871,983 (GRCm39)	F2462L	possibly damaging	Het
Mettl21e	T	A	1: 44,249,398 (GRCm39)	Y86F	probably benign	Het
Myh6	A	T	14: 55,190,411 (GRCm39)	D1035E	probably damaging	Het
Naip6	C	T	13: 100,436,367 (GRCm39)	D719N	probably damaging	Het
Nat8f2	T	G	6: 85,845,239 (GRCm39)	H41P	probably benign	Het
Ncam1	T	A	9: 49,454,319 (GRCm39)	Q597L	possibly damaging	Het
Nek1	T	A	8: 61,481,730 (GRCm39)	I215K	probably damaging	Het
Nol11	A	T	11: 107,071,881 (GRCm39)	S237R	probably benign	Het
Npr2	T	C	4: 43,648,166 (GRCm39)	F870S	probably damaging	Het
Nsd1	T	C	13: 55,408,210 (GRCm39)	Y1285H	probably damaging	Het
Nup93	C	T	8: 95,023,108 (GRCm39)	Q229*	probably null	Het
Or4a15	C	T	2: 89,193,447 (GRCm39)	E109K	probably damaging	Het
Or7g12	G	A	9: 18,900,099 (GRCm39)	A272T	probably benign	Het
Pappa	T	A	4: 65,099,186 (GRCm39)	Y568*	probably null	Het
Parva	A	G	7: 112,159,274 (GRCm39)	D180G	possibly damaging	Het
Pask	C	T	1: 93,249,019 (GRCm39)	A794T	probably benign	Het
Pax1	T	A	2: 147,207,802 (GRCm39)	C225S	probably damaging	Het
Pde4dip	T	A	3: 97,795,835 (GRCm39)	E51V	possibly damaging	Het
Pde6c	A	T	19: 38,150,777 (GRCm39)	H562L	probably damaging	Het
Pet100	T	G	8: 3,672,355 (GRCm39)	L14R	probably damaging	Het
Pfkfb2	T	C	1: 130,626,460 (GRCm39)	T438A	probably benign	Het
Pira2	A	T	7: 3,847,344 (GRCm39)	L115Q	probably damaging	Het
Polr2d	T	A	18: 31,929,132 (GRCm39)	L127Q	probably damaging	Het
Prkd1	A	G	12: 50,536,694 (GRCm39)	V130A	possibly damaging	Het
Psd3	T	C	8: 68,417,003 (GRCm39)	D45G	probably damaging	Het
Ptpn13	A	G	5: 103,703,999 (GRCm39)	T1344A	probably benign	Het
Ptpn6	T	A	6: 124,701,947 (GRCm39)	H406L	probably benign	Het
Ric1	A	T	19: 29,510,652 (GRCm39)	S78C	probably damaging	Het
Ric1	G	A	19: 29,510,653 (GRCm39)	S78N	probably damaging	Het
Scgb1b2	G	T	7: 30,991,188 (GRCm39)		probably benign	Het
Senp7	A	G	16: 55,990,169 (GRCm39)	H639R	probably benign	Het
Sgtb	A	T	13: 104,260,767 (GRCm39)	D72V	probably damaging	Het
Slc44a5	T	C	3: 153,964,086 (GRCm39)	M484T	probably benign	Het
Slc5a1	A	G	5: 33,318,140 (GRCm39)	K598E	probably benign	Het
Slit3	T	A	11: 35,503,088 (GRCm39)		probably null	Het
Smc1b	T	C	15: 85,008,003 (GRCm39)	H258R	probably benign	Het
Smu1	T	C	4: 40,744,073 (GRCm39)	D318G	probably damaging	Het
Sned1	T	A	1: 93,199,406 (GRCm39)	F495L	probably damaging	Het
Svs3a	C	A	2: 164,131,804 (GRCm39)	S124Y	probably damaging	Het
Syngr4	A	G	7: 45,536,464 (GRCm39)	V186A	probably benign	Het
Tars3	G	A	7: 65,305,539 (GRCm39)	M254I	possibly damaging	Het
Tdpoz1	T	A	3: 93,578,143 (GRCm39)	R214*	probably null	Het
Tm2d3	A	G	7: 65,344,987 (GRCm39)	D54G	probably damaging	Het
Trim66	A	T	7: 109,074,320 (GRCm39)	I647N	probably damaging	Het
Triml2	T	A	8: 43,646,548 (GRCm39)	W346R	probably damaging	Het
Trp53bp1	A	T	2: 121,046,545 (GRCm39)	V1085D	probably benign	Het
Trpv2	T	C	11: 62,483,612 (GRCm39)	V483A	probably benign	Het
Ugp2	G	T	11: 21,278,949 (GRCm39)	N412K	probably benign	Het
Upf1	T	C	8: 70,792,004 (GRCm39)	D418G	probably null	Het
Vmn2r77	C	A	7: 86,461,152 (GRCm39)	P826Q	probably damaging	Het
Vrtn	T	C	12: 84,696,936 (GRCm39)	M562T	probably benign	Het
Wdr55	A	G	18: 36,895,419 (GRCm39)	N132S	possibly damaging	Het
Wipf2	A	T	11: 98,787,040 (GRCm39)	R356S	possibly damaging	Het
Zdhhc6	T	C	19: 55,287,228 (GRCm39)	K411E	probably benign	Het
Zfp260	A	G	7: 29,804,765 (GRCm39)	K222E	probably damaging	Het
Zfp280d	A	G	9: 72,220,011 (GRCm39)	N237S	probably damaging	Het
Zfp445	T	G	9: 122,682,547 (GRCm39)	S465R	possibly damaging	Het
Zfp821	A	G	8: 110,450,979 (GRCm39)	D324G	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCAGGCTCTGTAACCTAAGC -3'
(R):5'- ACCTGGTAAGTGACATGTTGG -3'

Sequencing Primer
(F):5'- GGCTCTGTAACCTAAGCCTTAATGG -3'
(R):5'- GACATGTTGGTGACCCTATGCC -3'

Posted On

2014-10-01