Mutagenetix > Incidental Mutation

Incidental Mutation 'R1763:Ikbke'

193156

Institutional Source

Beutler Lab

Gene Symbol

Ikbke

Ensembl Gene

ENSMUSG00000042349

Gene Name

inhibitor of kappaB kinase epsilon

Synonyms

IKK-i, IKKepsilon

MMRRC Submission

039795-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131254343-131279606 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131265877 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 479 (T479A)

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: T503A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000054126
Gene: ENSMUSG00000042349
AA Change: T503A

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: T479A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000124190
Gene: ENSMUSG00000042349
AA Change: T479A

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

Meta Mutation Damage Score

0.0586

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

98% (85/87)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 122,163,830	T772S	probably damaging	Het
Abca4	G	A	3: 122,110,681	V794M	probably benign	Het
Acox3	G	A	5: 35,608,339		probably null	Het
Adamts17	A	G	7: 67,147,715	N1060S	probably damaging	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Als2	T	C	1: 59,174,991	Y1346C	probably benign	Het
Apol10b	A	T	15: 77,585,015	F321I	probably benign	Het
Atp5f1	A	G	3: 105,951,589		probably null	Het
Bloc1s5	A	G	13: 38,619,084		probably benign	Het
Btbd9	T	C	17: 30,334,297	N397S	possibly damaging	Het
Cacna1d	A	G	14: 30,099,196	V1121A	probably benign	Het
Cad	G	A	5: 31,060,951	V460I	probably damaging	Het
Caprin2	A	T	6: 148,843,121	D935E	probably damaging	Het
Ccdc150	A	T	1: 54,354,636	K686N	probably benign	Het
Ccnt2	T	C	1: 127,799,406	F186L	possibly damaging	Het
Cd5l	G	A	3: 87,367,880		probably null	Het
Chrna7	A	G	7: 63,099,252	V494A	probably benign	Het
Clec2i	T	G	6: 128,895,425	Y198*	probably null	Het
Col22a1	A	G	15: 72,007,176	V44A	probably damaging	Het
Cspg4	T	A	9: 56,886,979	I666N	probably damaging	Het
Cyp3a16	A	T	5: 145,465,031		probably null	Het
Dlk1	G	T	12: 109,458,119	C102F	probably damaging	Het
Dscc1	T	A	15: 55,084,139	H215L	probably damaging	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 55,080,176		probably benign	Het
Dus1l	C	G	11: 120,795,671	G15R	probably benign	Het
Eps8l1	G	T	7: 4,471,823	V268L	probably benign	Het
F2	A	C	2: 91,634,906	C104W	probably damaging	Het
F5	C	A	1: 164,192,535	Q860K	probably benign	Het
Fmn2	T	C	1: 174,502,266	L74P	unknown	Het
Frmd6	G	A	12: 70,893,622	R347Q	possibly damaging	Het
Gabbr1	T	G	17: 37,054,767	S158A	probably damaging	Het
Galc	T	C	12: 98,234,266	N295S	probably damaging	Het
Gm436	A	G	4: 144,669,959	V401A	probably benign	Het
Gm6408	A	T	5: 146,482,322	N49I	probably damaging	Het
Grm1	T	A	10: 11,079,866	T225S	possibly damaging	Het
Grm8	C	T	6: 27,285,867	V849I	possibly damaging	Het
Hmcn2	A	G	2: 31,314,590	D59G	probably damaging	Het
Iars	G	A	13: 49,723,077		probably null	Het
Ifi27	C	T	12: 103,437,682	A127V	possibly damaging	Het
Ikbip	A	G	10: 91,096,481	N329S	probably damaging	Het
Krt12	T	A	11: 99,416,060	N472I	probably damaging	Het
Lmnb2	A	T	10: 80,907,191	L193Q	probably damaging	Het
Lrriq4	T	C	3: 30,650,252	V128A	probably benign	Het
Map4k4	C	A	1: 40,000,757		probably benign	Het
Mtmr7	T	C	8: 40,551,811	T575A	probably benign	Het
Myh13	G	A	11: 67,334,576	A256T	probably benign	Het
Napepld	A	G	5: 21,683,410	Y14H	probably benign	Het
Npr1	T	C	3: 90,459,337	T552A	probably damaging	Het
Nudt15	A	G	14: 73,521,647	F127S	probably benign	Het
Nwd2	T	A	5: 63,808,271	S1733T	probably benign	Het
Olfr1189	A	G	2: 88,592,436	I211V	probably benign	Het
Olfr1257	G	A	2: 89,881,129	G101E	probably damaging	Het
Olfr1348	T	G	7: 6,501,441	I262L	probably benign	Het
Olfr907	A	G	9: 38,499,038	Y123C	probably damaging	Het
Olfr96	T	C	17: 37,225,430	F102L	probably benign	Het
Paqr7	A	T	4: 134,507,098	I89F	probably benign	Het
Pidd1	C	A	7: 141,439,630	V706L	probably benign	Het
Polr3c	A	T	3: 96,713,595	I469N	probably damaging	Het
Ppip5k1	A	G	2: 121,348,547	Y233H	probably damaging	Het
Psmc3	A	G	2: 91,055,995	T166A	possibly damaging	Het
Ptchd3	A	T	11: 121,842,542	I753L	probably benign	Het
Rad21	T	C	15: 51,978,170	K50R	probably damaging	Het
Rad54b	A	G	4: 11,604,989	E479G	possibly damaging	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Rgs20	C	T	1: 4,910,640	R154Q	probably damaging	Het
Sbf1	T	C	15: 89,294,425	D1449G	probably damaging	Het
Sema4g	C	T	19: 45,001,605	R708*	probably null	Het
Sept9	T	C	11: 117,290,428	I18T	probably benign	Het
Serpinb6b	A	G	13: 32,978,058	E280G	probably damaging	Het
Slamf6	T	C	1: 171,942,587		probably benign	Het
Slc6a21	G	A	7: 45,287,734	W554*	probably null	Het
Slco1a4	A	C	6: 141,812,731	I518R	probably benign	Het
Stab1	T	A	14: 31,168,416	Q26L	probably benign	Het
Stox1	A	G	10: 62,667,965	F104L	probably damaging	Het
Suco	T	C	1: 161,834,949	K638E	possibly damaging	Het
Synpo	T	C	18: 60,602,784	K458E	probably damaging	Het
Szt2	A	T	4: 118,372,368	W2820R	unknown	Het
Tmtc1	C	A	6: 148,294,618	G499W	probably damaging	Het
Tonsl	A	C	15: 76,638,066	S242R	probably damaging	Het
Trpc4	G	T	3: 54,194,822	S47I	possibly damaging	Het
Zfp106	G	A	2: 120,520,428	R1581C	probably benign	Het
Zfp27	A	G	7: 29,895,376	L388P	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
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
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'- AGCATCATCACACAGACAGTGGGG -3'
(R):5'- CATCAGTGTGCTACTGGTTGTCAGG -3'

Sequencing Primer
(F):5'- GGTCCCGGTTCTTTAAAAGC -3'
(R):5'- gtttcaacctacttcaactttcattc -3'

Posted On

2014-05-23