Mutagenetix > Incidental Mutation

Incidental Mutation 'R1470:Ikbke'

197892

Institutional Source

Beutler Lab

Gene Symbol

Ikbke

Ensembl Gene

ENSMUSG00000042349

Gene Name

inhibitor of kappaB kinase epsilon

Synonyms

IKK-i, IKKepsilon

MMRRC Submission

039523-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1470 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131254343-131279606 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 131276487 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 23 (V23E)

Ref Sequence

ENSEMBL: ENSMUSP00000124486 (fasta)

Gene Model

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

AlphaFold

Q9R0T8

Predicted Effect

probably null
Transcript: ENSMUST00000062108
AA Change: V23E

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

SMART Domains

Protein: ENSMUSP00000054126
Gene: ENSMUSG00000042349
AA Change: V23E

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 null
Transcript: ENSMUST00000159195
AA Change: V23E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124486
Gene: ENSMUSG00000042349
AA Change: V23E

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 null
Transcript: ENSMUST00000161764
AA Change: V23E

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

SMART Domains

Protein: ENSMUSP00000124190
Gene: ENSMUSG00000042349
AA Change: V23E

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

Meta Mutation Damage Score

0.9751

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.0%

Validation Efficiency

97% (125/129)

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: 142 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415O20Rik	T	C	15: 98,585,261		probably benign	Het
4932438A13Rik	T	C	3: 36,998,331	M3060T	probably benign	Het
Aak1	T	A	6: 86,967,355	S749T	unknown	Het
Abcb4	A	T	5: 8,940,968	I843F	probably damaging	Het
Abcb6	A	T	1: 75,172,679		probably benign	Het
AC161516.2	G	T	5: 67,946,397		probably benign	Het
AC238840.1	A	T	7: 38,767,953		noncoding transcript	Het
Actr8	T	A	14: 29,986,969	H244Q	possibly damaging	Het
Acyp2	A	G	11: 30,506,452		probably benign	Het
Adgrv1	A	G	13: 81,382,298	Y5886H	probably benign	Het
Afap1	C	T	5: 35,961,737		probably benign	Het
Agk	T	A	6: 40,386,817	W244R	probably damaging	Het
Akirin1	T	A	4: 123,738,090		probably benign	Het
Ankrd11	C	A	8: 122,899,724	V161L	probably damaging	Het
Arap3	T	C	18: 37,989,196		probably null	Het
Arhgap29	A	G	3: 121,992,319		probably benign	Het
Armc3	A	G	2: 19,238,736	M88V	probably benign	Het
Atp13a5	G	T	16: 29,349,015	P109T	probably benign	Het
Avpr1b	T	A	1: 131,600,585	V282D	probably damaging	Het
Baz2b	T	C	2: 59,978,546	K120E	possibly damaging	Het
Cacna1a	T	A	8: 84,514,950		probably benign	Het
Cacng6	G	A	7: 3,424,888	C76Y	probably damaging	Het
Cactin	G	T	10: 81,323,151	E279*	probably null	Het
Car9	A	G	4: 43,510,222	Y268C	probably damaging	Het
Ccdc146	T	A	5: 21,319,566	I263F	probably damaging	Het
Cdc16	A	T	8: 13,758,992		probably benign	Het
Cdh16	T	G	8: 104,618,371	S429R	probably benign	Het
Cep250	A	G	2: 155,991,075	E1639G	probably damaging	Het
Ces1d	A	T	8: 93,195,021	V38D	possibly damaging	Het
Chd1	A	T	17: 15,726,283	Q97L	possibly damaging	Het
Ciita	G	A	16: 10,514,468	D898N	possibly damaging	Het
Clstn1	A	G	4: 149,634,722	N336S	possibly damaging	Het
Cntnap5a	A	G	1: 116,259,519	D607G	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Col20a1	C	T	2: 180,994,960	H245Y	probably benign	Het
Coq8b	A	T	7: 27,252,309	T399S	probably benign	Het
Cpn2	A	G	16: 30,260,185	S233P	probably benign	Het
Cryz	G	A	3: 154,606,476	G70D	probably damaging	Het
Csmd1	G	T	8: 16,157,204		probably benign	Het
Def6	T	A	17: 28,225,982	D451E	possibly damaging	Het
Dnah8	T	A	17: 30,747,277	C2480*	probably null	Het
Dnah9	T	C	11: 65,927,822	N3230S	probably benign	Het
Dyrk4	G	T	6: 126,916,374	S15*	probably null	Het
Erc1	T	C	6: 119,694,602	R917G	probably damaging	Het
Fgd2	T	A	17: 29,374,108		probably benign	Het
Frem3	G	T	8: 80,611,191	V38L	probably benign	Het
Gas2l3	T	C	10: 89,413,934	I441V	probably benign	Het
Gm14393	T	A	2: 175,063,981	Y6F	probably damaging	Het
Gm1527	A	G	3: 28,915,268	K256E	possibly damaging	Het
Gtf2ird1	T	A	5: 134,395,802		probably null	Het
Hmces	C	A	6: 87,936,139	T292K	probably benign	Het
Hpse2	G	A	19: 43,388,253	S20L	probably benign	Het
Ino80	A	T	2: 119,379,649	V1387E	probably damaging	Het
Islr	G	T	9: 58,157,306	A306D	probably damaging	Het
Jakmip1	G	A	5: 37,100,838	G276D	probably damaging	Het
Jchain	A	G	5: 88,526,120	V55A	probably benign	Het
Kalrn	T	C	16: 34,187,471	K1350E	probably damaging	Het
Kansl1l	T	C	1: 66,801,997	Q48R	possibly damaging	Het
Kmt5a	T	C	5: 124,447,271	L23P	probably damaging	Het
Lrba	C	T	3: 86,737,142	H381Y	probably damaging	Het
Lrch3	T	C	16: 32,988,495		probably benign	Het
Lrrc32	T	C	7: 98,499,357	V448A	probably benign	Het
Mapkbp1	T	C	2: 120,017,820	M617T	probably damaging	Het
Megf6	C	T	4: 154,252,419		probably benign	Het
Mfap1a	T	C	2: 121,502,801	M50V	probably benign	Het
Mgam	G	T	6: 40,759,128	A854S	probably damaging	Het
Myh3	A	C	11: 67,098,059		probably benign	Het
Myo18b	C	A	5: 112,693,033	R2298L	probably damaging	Het
Myo1h	T	A	5: 114,319,704	M92K	probably damaging	Het
Nfkbib	T	C	7: 28,762,022		probably null	Het
Nlrp2	T	A	7: 5,300,951	T192S	probably benign	Het
Nr2f1	A	T	13: 78,198,165	Y137N	possibly damaging	Het
Nup98	T	A	7: 102,147,306	D841V	probably damaging	Het
Nvl	A	G	1: 181,139,262	V59A	probably damaging	Het
Ogdhl	C	A	14: 32,346,788	N948K	probably damaging	Het
Olfr530	A	G	7: 140,373,113	S166P	probably benign	Het
Olfr538	A	G	7: 140,574,749	T199A	probably benign	Het
Olfr578	A	C	7: 102,984,323	Y280*	probably null	Het
Olfr743	T	C	14: 50,533,702	S97P	possibly damaging	Het
Orc2	A	C	1: 58,481,158		probably benign	Het
Osgin1	G	A	8: 119,444,965	R166H	probably damaging	Het
Palb2	A	T	7: 122,107,523	F741I	probably benign	Het
Palb2	G	T	7: 122,107,524	Y740*	probably null	Het
Parvb	G	A	15: 84,271,252	G46D	probably damaging	Het
Parvb	G	A	15: 84,271,308	D65N	probably benign	Het
Pcsk2	A	T	2: 143,546,518	K10*	probably null	Het
Pde3a	C	T	6: 141,466,206	A502V	probably benign	Het
Pfas	T	C	11: 68,991,359	I893V	probably benign	Het
Pla2g4a	A	T	1: 149,840,720	D663E	probably damaging	Het
Prickle2	G	A	6: 92,458,602	P6L	probably damaging	Het
Prx	T	A	7: 27,517,601	M648K	probably benign	Het
Ptpn21	T	C	12: 98,688,476	N744S	probably benign	Het
Ptprq	C	T	10: 107,718,574	V97M	probably damaging	Het
Pvr	T	C	7: 19,918,624	E122G	possibly damaging	Het
Racgap1	T	C	15: 99,639,775	K15E	probably damaging	Het
Rock1	C	T	18: 10,136,091		probably null	Het
Rorc	T	A	3: 94,397,302	Y331*	probably null	Het
Rpl37	T	C	15: 5,118,614	V91A	probably benign	Het
Rrp36	T	A	17: 46,672,380	K103*	probably null	Het
Ryr3	T	A	2: 112,653,007	M4142L	probably benign	Het
Sash1	A	T	10: 8,789,593	L125H	probably damaging	Het
Scn5a	T	C	9: 119,536,475	M369V	possibly damaging	Het
Siglec1	A	T	2: 131,070,387	N1678K	probably benign	Het
Slc15a5	A	T	6: 138,072,994	V141E	probably benign	Het
Slc43a1	T	C	2: 84,859,676		probably benign	Het
Slc8a3	A	T	12: 81,199,710	H856Q	probably benign	Het
Sptlc2	T	A	12: 87,355,640	M171L	probably benign	Het
Srcap	T	A	7: 127,559,727		probably benign	Het
St6gal2	A	G	17: 55,490,943	D310G	probably damaging	Het
Susd2	T	A	10: 75,638,054	D689V	probably damaging	Het
Suz12	A	T	11: 80,019,732	E303V	possibly damaging	Het
Taldo1	C	A	7: 141,398,587	T150K	probably damaging	Het
Tex14	T	C	11: 87,549,529		probably benign	Het
Tg	T	A	15: 66,849,463	F274I	possibly damaging	Het
Tmem151b	T	C	17: 45,545,737	D259G	probably damaging	Het
Tmem179	G	T	12: 112,501,854	H64Q	probably benign	Het
Tmem236	A	G	2: 14,218,921	T174A	probably benign	Het
Tmtc1	T	A	6: 148,305,985		probably benign	Het
Tnc	A	T	4: 63,966,574	N1821K	probably damaging	Het
Tnfrsf11a	A	G	1: 105,825,048	N261S	probably damaging	Het
Traf6	G	T	2: 101,696,649		probably benign	Het
Trank1	C	A	9: 111,343,232	F96L	possibly damaging	Het
Trim56	T	A	5: 137,113,163	I500F	probably damaging	Het
Ttc30b	G	T	2: 75,937,811	S199R	probably benign	Het
Ttll5	A	G	12: 85,879,394	I321V	possibly damaging	Het
Ttn	C	A	2: 76,778,023	W17852L	probably damaging	Het
Twnk	G	A	19: 45,009,381	V450M	probably damaging	Het
Uba52	A	G	8: 70,509,556	I127T	possibly damaging	Het
Ubr4	T	A	4: 139,421,226		probably null	Het
Uggt1	A	T	1: 36,176,796	M130K	probably benign	Het
Ulk4	T	A	9: 121,081,656	T1101S	probably benign	Het
Urb1	A	G	16: 90,752,014	S2269P	probably benign	Het
Ush2a	G	T	1: 188,400,206	R875L	probably benign	Het
Usp9y	T	A	Y: 1,332,471	H1624L	probably benign	Homo
Vipr1	T	C	9: 121,665,520	L308S	possibly damaging	Het
Vps50	G	A	6: 3,517,777		probably benign	Het
Xdh	T	G	17: 73,891,112	K1260T	probably damaging	Het
Yipf4	A	G	17: 74,493,968	I94V	probably benign	Het
Zfhx4	A	G	3: 5,413,146	*3582W	probably null	Het
Zfp58	T	C	13: 67,492,025	N116D	possibly damaging	Het
Zfp750	C	A	11: 121,511,993	R643L	probably benign	Het
Znfx1	A	G	2: 167,042,587	V51A	possibly damaging	Het

Other mutations in Ikbke

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Ikbke	APN	1	131270012	splice site	probably null
IGL00703:Ikbke	APN	1	131255302	utr 3 prime	probably benign
IGL01079:Ikbke	APN	1	131265647	missense	possibly damaging	0.64
IGL01106:Ikbke	APN	1	131260055	splice site	probably benign
IGL01336:Ikbke	APN	1	131273756	missense	probably damaging	1.00
IGL01505:Ikbke	APN	1	131255311	missense	probably benign	0.00
IGL01564:Ikbke	APN	1	131257921	missense	probably benign	0.37
IGL01568:Ikbke	APN	1	131257896	splice site	probably null
IGL01668:Ikbke	APN	1	131256938	missense	probably benign	0.05
IGL01977:Ikbke	APN	1	131272101	splice site	probably benign
IGL02162:Ikbke	APN	1	131273715	missense	possibly damaging	0.69
IGL02653:Ikbke	APN	1	131271835	missense	possibly damaging	0.89
IGL02859:Ikbke	APN	1	131270197	missense	probably damaging	0.97
triathelon	UTSW	1	131275267	frame shift	probably null
R0028:Ikbke	UTSW	1	131272184	missense	possibly damaging	0.87
R0427:Ikbke	UTSW	1	131257910	missense	possibly damaging	0.62
R0607:Ikbke	UTSW	1	131270184	critical splice donor site	probably null
R1295:Ikbke	UTSW	1	131270226	missense	probably benign	0.03
R1470:Ikbke	UTSW	1	131276487	missense	probably null	1.00
R1720:Ikbke	UTSW	1	131259210	missense	possibly damaging	0.94
R1728:Ikbke	UTSW	1	131265937	missense	probably benign	0.01
R1728:Ikbke	UTSW	1	131269823	missense	probably benign	0.00
R1729:Ikbke	UTSW	1	131265937	missense	probably benign	0.01
R1729:Ikbke	UTSW	1	131269823	missense	probably benign	0.00
R1730:Ikbke	UTSW	1	131265937	missense	probably benign	0.01
R1730:Ikbke	UTSW	1	131269823	missense	probably benign	0.00
R1739:Ikbke	UTSW	1	131265937	missense	probably benign	0.01
R1739:Ikbke	UTSW	1	131269823	missense	probably benign	0.00
R1748:Ikbke	UTSW	1	131259200	missense	probably benign	0.02
R1762:Ikbke	UTSW	1	131265937	missense	probably benign	0.01
R1762:Ikbke	UTSW	1	131269823	missense	probably benign	0.00
R1763:Ikbke	UTSW	1	131265877	missense	probably benign	0.01
R1783:Ikbke	UTSW	1	131265937	missense	probably benign	0.01
R1783:Ikbke	UTSW	1	131269823	missense	probably benign	0.00
R1784:Ikbke	UTSW	1	131265937	missense	probably benign	0.01
R1784:Ikbke	UTSW	1	131269823	missense	probably benign	0.00
R1785:Ikbke	UTSW	1	131265937	missense	probably benign	0.01
R1785:Ikbke	UTSW	1	131269823	missense	probably benign	0.00
R1794:Ikbke	UTSW	1	131259218	missense	probably damaging	1.00
R2143:Ikbke	UTSW	1	131273474	missense	probably damaging	0.98
R2144:Ikbke	UTSW	1	131273474	missense	probably damaging	0.98
R2145:Ikbke	UTSW	1	131273474	missense	probably damaging	0.98
R2386:Ikbke	UTSW	1	131259266	missense	probably damaging	1.00
R2893:Ikbke	UTSW	1	131270224	missense	probably damaging	1.00
R4210:Ikbke	UTSW	1	131263348	missense	probably damaging	0.97
R4211:Ikbke	UTSW	1	131263348	missense	probably damaging	0.97
R4284:Ikbke	UTSW	1	131275778	critical splice donor site	probably null
R4461:Ikbke	UTSW	1	131265922	missense	probably benign
R4551:Ikbke	UTSW	1	131258033	intron	probably benign
R4560:Ikbke	UTSW	1	131272120	missense	probably damaging	1.00
R4849:Ikbke	UTSW	1	131275267	frame shift	probably null
R4855:Ikbke	UTSW	1	131257111	splice site	probably null
R4876:Ikbke	UTSW	1	131275267	frame shift	probably null
R4879:Ikbke	UTSW	1	131275267	frame shift	probably null
R4967:Ikbke	UTSW	1	131275267	frame shift	probably null
R4968:Ikbke	UTSW	1	131275267	frame shift	probably null
R4971:Ikbke	UTSW	1	131275267	frame shift	probably null
R5020:Ikbke	UTSW	1	131273660	missense	probably damaging	1.00
R5699:Ikbke	UTSW	1	131276467	critical splice donor site	probably null
R5814:Ikbke	UTSW	1	131271779	missense	probably damaging	0.96
R6392:Ikbke	UTSW	1	131275146	splice site	probably null
R6492:Ikbke	UTSW	1	131259218	missense	probably damaging	1.00
R6899:Ikbke	UTSW	1	131275762	missense	probably damaging	1.00
R7552:Ikbke	UTSW	1	131272150	nonsense	probably null
R7583:Ikbke	UTSW	1	131276479	missense	probably damaging	0.99
R7652:Ikbke	UTSW	1	131271832	missense	probably damaging	1.00
R7806:Ikbke	UTSW	1	131271898	missense	probably damaging	1.00
R7984:Ikbke	UTSW	1	131275786	missense	probably null	1.00
R8211:Ikbke	UTSW	1	131271778	missense	probably damaging	0.96
R8309:Ikbke	UTSW	1	131263328	nonsense	probably null
R9012:Ikbke	UTSW	1	131273453	missense	probably damaging	0.97
R9176:Ikbke	UTSW	1	131263288	missense	probably benign	0.01
R9466:Ikbke	UTSW	1	131265708	missense	probably damaging	0.96
R9483:Ikbke	UTSW	1	131270982	missense	probably damaging	1.00
R9643:Ikbke	UTSW	1	131259285	critical splice acceptor site	probably null
X0026:Ikbke	UTSW	1	131257986	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTCTGACAGAGGCACCATTCCAAG -3'
(R):5'- AGAAGTCAGTCCCCAAGGGTAGAAC -3'

Sequencing Primer
(F):5'- GGAATTTTTCCAGCATCCCACAC -3'
(R):5'- acttaaccttcctgagccac -3'

Posted On

2014-05-23