Mutagenetix > Incidental Mutation

Incidental Mutation 'R1794:Ikbke'

202010

Institutional Source

Beutler Lab

Gene Symbol

Ikbke

Ensembl Gene

ENSMUSG00000042349

Gene Name

inhibitor of kappaB kinase epsilon

Synonyms

IKK-i, IKKepsilon

MMRRC Submission

039824-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1794 (G1)

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

131254343-131279606 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131259218 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 579 (Y579F)

Ref Sequence

ENSEMBL: ENSMUSP00000124190 (fasta)

Gene Model

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

AlphaFold

Q9R0T8

Predicted Effect

probably damaging
Transcript: ENSMUST00000062108
AA Change: Y603F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054126
Gene: ENSMUSG00000042349
AA Change: Y603F

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 damaging
Transcript: ENSMUST00000161764
AA Change: Y579F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000124190
Gene: ENSMUSG00000042349
AA Change: Y579F

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: ENSMUST00000163029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186240

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188115

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.8%
20x: 91.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,620	E44G	probably benign	Het
Anxa7	A	G	14: 20,471,467	Y54H	unknown	Het
Arhgef3	A	G	14: 27,397,605	T331A	probably benign	Het
Arhgef40	G	T	14: 51,989,930	C477F	possibly damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atp13a5	C	A	16: 29,321,709	R343L	probably damaging	Het
Brdt	ACAGCAGCAGCAGCAGC	ACAGCAGCAGCAGC	5: 107,359,853		probably benign	Het
Btbd2	G	T	10: 80,643,913	D426E	probably damaging	Het
Cabin1	A	C	10: 75,725,745	I974R	possibly damaging	Het
Cacna1i	G	A	15: 80,389,122	V1670M	probably damaging	Het
Cc2d2a	C	A	5: 43,688,252	Q288K	probably damaging	Het
Ccl20	T	A	1: 83,117,829	I37K	possibly damaging	Het
Cdcp1	A	G	9: 123,190,094	V40A	probably benign	Het
Cdcp1	T	C	9: 123,215,831	T27A	probably benign	Het
Cdh4	C	T	2: 179,886,842	T581I	probably damaging	Het
Cgn	A	G	3: 94,762,557		probably null	Het
Col7a1	G	A	9: 108,965,928	G1493D	unknown	Het
Creb3	A	G	4: 43,563,302	E133G	probably benign	Het
Dchs1	T	C	7: 105,771,720	T498A	probably benign	Het
Dis3l	A	C	9: 64,317,776	V413G	possibly damaging	Het
Dnah6	T	C	6: 73,024,958	E3865G	probably damaging	Het
Fam219b	A	G	9: 57,539,281	Y139C	probably damaging	Het
Fat3	A	T	9: 15,997,136	Y2523*	probably null	Het
Fat3	A	T	9: 15,997,138	Y2523N	probably benign	Het
Fmnl1	T	C	11: 103,197,147	S40P	probably benign	Het
Gm17727	T	A	9: 35,777,122	I56F	probably benign	Het
Gm4792	T	C	10: 94,298,490	D6G	unknown	Het
Hhat	G	T	1: 192,693,906	Y306*	probably null	Het
Hmcn1	A	G	1: 150,598,285	I4802T	probably benign	Het
Hmcn1	G	A	1: 150,627,152	T3908I	probably damaging	Het
Hsph1	A	T	5: 149,630,773	N79K	probably damaging	Het
Jak2	A	G	19: 29,299,557	D838G	probably benign	Het
Klhdc7b	T	C	15: 89,387,020	S702P	probably benign	Het
Lingo3	C	A	10: 80,835,598	R166L	probably benign	Het
Lins1	T	C	7: 66,711,909	F436S	probably damaging	Het
Lman1	T	C	18: 65,991,684	D328G	probably benign	Het
Lox	A	G	18: 52,528,307	C232R	probably damaging	Het
Lrrc59	T	C	11: 94,638,595	V165A	probably benign	Het
Map9	A	G	3: 82,380,221	D50G	probably damaging	Het
March1	T	A	8: 66,386,942	Y126N	possibly damaging	Het
Mcf2l	T	C	8: 12,915,982	F3L	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Nin	G	A	12: 70,043,795	Q949*	probably null	Het
Nlgn3	A	G	X: 101,320,033	H636R	probably benign	Het
Notch2	A	G	3: 98,099,547	D411G	possibly damaging	Het
Olfr1263	A	G	2: 90,015,020	Y30C	probably damaging	Het
Olfr1449	G	C	19: 12,934,968	A77P	probably damaging	Het
Plekha7	A	G	7: 116,140,681	V579A	probably damaging	Het
Prrc2c	T	C	1: 162,705,959		probably benign	Het
Rab7b	T	C	1: 131,697,068		probably null	Het
Reg3b	G	T	6: 78,372,214		probably null	Het
Rgs20	A	G	1: 4,910,572	Y177H	probably damaging	Het
Ripk3	G	T	14: 55,785,329	N379K	probably benign	Het
Rnf220	G	T	4: 117,307,568	Q7K	probably benign	Het
Ros1	T	A	10: 52,124,103	K1109*	probably null	Het
Slc22a7	T	G	17: 46,433,153	R460S	probably damaging	Het
Slc4a2	A	G	5: 24,439,328	M975V	probably damaging	Het
Slc4a3	A	T	1: 75,557,308	I1100F	probably damaging	Het
Smco1	A	G	16: 32,274,132	E207G	probably benign	Het
Snrnp200	A	G	2: 127,216,736	E369G	probably benign	Het
Tcf4	T	A	18: 69,657,853	M178K	probably benign	Het
Tex2	T	C	11: 106,567,902		probably benign	Het
Tjp1	A	T	7: 65,323,129	I521N	probably damaging	Het
Tmem203	A	G	2: 25,255,994	T109A	probably benign	Het
Tmem50b	T	C	16: 91,578,029	I126V	probably benign	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ush2a	T	C	1: 188,862,809	F3813L	probably benign	Het
Vmn1r203	C	T	13: 22,524,351	R101W	probably damaging	Het
Vmn2r79	G	A	7: 87,001,413	V136I	probably benign	Het
Wdr38	A	G	2: 39,000,729	Y205C	probably damaging	Het
Zfp248	A	G	6: 118,429,303	F442L	probably damaging	Het
Znrf4	A	G	17: 56,511,599	I236T	probably 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
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
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'- ACCGGCCACCGTTTCTATAC -3'
(R):5'- TAGGACCCAAGTGTATGGTCATC -3'

Sequencing Primer
(F):5'- ACTAGGTCCTCTCTTACTGAGCAGAG -3'
(R):5'- GACCCAAGTGTATGGTCATCCTCTC -3'

Posted On

2014-06-23