Mutagenetix > Incidental Mutations

Incidental Mutation 'R0730:Clk1'

67432

Institutional Source

Beutler Lab

Gene Symbol

Clk1

Ensembl Gene

ENSMUSG00000026034

Gene Name

CDC-like kinase 1

Synonyms

Clk1, STY

MMRRC Submission

038911-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0730 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58410189-58424066 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58414399 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 343 (H343Y)

Ref Sequence

ENSEMBL: ENSMUSP00000034868 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034868] [ENSMUST00000148330] [ENSMUST00000151338]

Predicted Effect

probably benign
Transcript: ENSMUST00000034868
AA Change: H343Y

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034868
Gene: ENSMUSG00000026034
AA Change: H343Y

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
low complexity region	82	93	N/A	INTRINSIC
low complexity region	99	139	N/A	INTRINSIC
S_TKc	160	476	3.55e-79	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129577

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139787

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141570

Predicted Effect

probably benign
Transcript: ENSMUST00000148330

SMART Domains

Protein: ENSMUSP00000137649
Gene: ENSMUSG00000026034

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
low complexity region	82	93	N/A	INTRINSIC
low complexity region	99	129	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151338

SMART Domains

Protein: ENSMUSP00000137815
Gene: ENSMUSG00000026034

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
low complexity region	82	93	N/A	INTRINSIC
low complexity region	99	129	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156931

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186552

Meta Mutation Damage Score

0.7490

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.1%

Validation Efficiency

99% (99/100)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the CDC2-like (or LAMMER) family of dual specificity protein kinases. In the nucleus, the encoded protein phosphorylates serine/arginine-rich proteins involved in pre-mRNA processing, releasing them into the nucleoplasm. The choice of splice sites during pre-mRNA processing may be regulated by the concentration of transacting factors, including serine/arginine rich proteins. Therefore, the encoded protein may play an indirect role in governing splice site selection. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	A	3: 108,469,535	H509L	probably benign	Het
9930021J03Rik	T	A	19: 29,717,981	I1438F	probably benign	Het
Adam9	A	T	8: 24,996,758	I168N	probably benign	Het
Adamts20	G	A	15: 94,347,690	A577V	probably benign	Het
Agtr1a	A	T	13: 30,381,296	S115C	probably damaging	Het
Ankrd11	T	C	8: 122,891,953	Y1720C	probably damaging	Het
Ano6	A	T	15: 95,920,371	T353S	probably damaging	Het
App	A	G	16: 85,079,952	F184L	probably damaging	Het
Arhgef38	T	A	3: 133,137,471	Y446F	probably benign	Het
Aspg	T	A	12: 112,112,259	Y57*	probably null	Het
Atp1a4	G	A	1: 172,240,207		probably benign	Het
Bdp1	G	A	13: 100,058,951		probably benign	Het
Bicd2	T	A	13: 49,378,241	S246T	possibly damaging	Het
Bsn	T	A	9: 108,106,812	M3348L	unknown	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Cacna2d3	T	C	14: 28,982,365	I820V	probably benign	Het
Cdc40	A	G	10: 40,844,956		probably benign	Het
Cdh23	T	C	10: 60,323,714	E2094G	probably damaging	Het
Celsr2	T	A	3: 108,398,606	N2061Y	probably damaging	Het
Cfap206	G	A	4: 34,711,391	A502V	probably benign	Het
Cfap54	T	C	10: 93,034,737	T29A	probably benign	Het
Cfap57	T	C	4: 118,612,920		probably null	Het
Chd5	A	G	4: 152,347,984	E43G	possibly damaging	Het
Cntn4	A	C	6: 106,550,486	K443T	probably damaging	Het
Csn2	G	A	5: 87,694,952	A72V	possibly damaging	Het
Ctdp1	T	A	18: 80,450,242	H346L	probably benign	Het
Ctif	A	T	18: 75,565,012	N192K	probably damaging	Het
Ddr2	G	A	1: 169,995,566	A383V	probably benign	Het
Derl3	C	T	10: 75,895,242		probably benign	Het
Dgkh	T	C	14: 78,584,479	I865V	probably damaging	Het
Dip2b	C	T	15: 100,171,651	A619V	probably damaging	Het
Eml1	A	G	12: 108,530,326	T614A	possibly damaging	Het
Eogt	G	C	6: 97,116,009	Y402*	probably null	Het
Erbb4	A	G	1: 68,259,290	V647A	probably damaging	Het
Esm1	G	T	13: 113,213,502		probably null	Het
Fbxo31	A	G	8: 121,555,364		probably benign	Het
Fbxw5	T	A	2: 25,504,618	D201E	possibly damaging	Het
Fgfr1	G	A	8: 25,555,744	D123N	probably benign	Het
G530012D18Rik	A	C	1: 85,577,036		probably benign	Het
Gnat1	G	A	9: 107,679,463	T29I	probably damaging	Het
Gtf2ird2	A	T	5: 134,192,758	R67*	probably null	Het
Iltifb	A	T	10: 118,294,237	D87E	probably benign	Het
Kcnq3	T	C	15: 65,995,608	T729A	probably benign	Het
Klrc2	A	T	6: 129,658,696	S156R	probably damaging	Het
Krt76	A	T	15: 101,887,349	L462Q	probably damaging	Het
Lama3	C	A	18: 12,456,850		probably benign	Het
Lin28a	A	T	4: 134,008,008	S56T	probably damaging	Het
Macf1	A	G	4: 123,382,530		probably benign	Het
Macrod2	C	T	2: 142,217,674		probably benign	Het
Mansc1	C	T	6: 134,617,461		probably benign	Het
Map1b	G	T	13: 99,429,766	S2149*	probably null	Het
Mgst1	A	T	6: 138,147,669	T34S	probably benign	Het
Mlf2	C	T	6: 124,934,391	T123M	probably damaging	Het
Mospd2	C	T	X: 164,948,257		probably benign	Het
Mrpl15	A	T	1: 4,777,611	V155E	probably damaging	Het
Mstn	A	T	1: 53,061,794	Y10F	possibly damaging	Het
Myo1g	C	T	11: 6,520,794	V21M	probably damaging	Het
Myom2	T	C	8: 15,099,326	I599T	probably benign	Het
Ndc80	A	T	17: 71,496,246	N633K	probably benign	Het
Nhs	C	A	X: 161,837,300	V1487L	possibly damaging	Het
Npc1	T	C	18: 12,219,325	T106A	probably benign	Het
Nup133	C	T	8: 123,949,008	V57M	probably benign	Het
Nup98	T	A	7: 102,160,716	T536S	probably damaging	Het
Olfr1045	A	G	2: 86,198,725	V9A	probably benign	Het
Olfr1106	T	C	2: 87,049,148	I29M	probably benign	Het
Olfr818	T	A	10: 129,945,111	H317L	probably benign	Het
Oprm1	T	C	10: 6,832,652		probably benign	Het
Ostf1	C	T	19: 18,604,207	V14I	unknown	Het
Pcdhb14	C	A	18: 37,448,868	D342E	probably damaging	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Pdpr	T	C	8: 111,125,755		probably null	Het
Plce1	G	A	19: 38,716,691	V847M	probably damaging	Het
Pon3	A	G	6: 5,230,444	M288T	probably benign	Het
Psd2	A	T	18: 35,978,574	D84V	possibly damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ralgapa1	T	C	12: 55,665,663	K1808E	probably damaging	Het
Ramp3	T	C	11: 6,676,476		probably benign	Het
Rasgrf1	T	A	9: 89,951,009		probably benign	Het
Rictor	A	G	15: 6,773,986		probably benign	Het
Rptor	A	T	11: 119,884,954	I984F	probably benign	Het
Slc1a6	C	T	10: 78,796,008	P223S	probably benign	Het
Taar8b	A	C	10: 24,092,026	V90G	probably damaging	Het
Tbc1d21	A	G	9: 58,359,877	V327A	probably benign	Het
Tex21	T	C	12: 76,204,166	T499A	probably benign	Het
Tg	A	T	15: 66,678,789	D256V	probably damaging	Het
Tmf1	A	G	6: 97,176,492	S207P	probably benign	Het
Tpr	A	G	1: 150,393,407		probably benign	Het
Ufd1	A	G	16: 18,814,887	T21A	probably damaging	Het
Unc13a	T	C	8: 71,656,285	D115G	possibly damaging	Het
Usb1	T	A	8: 95,344,041	F198L	probably damaging	Het
Utrn	A	T	10: 12,698,158		probably benign	Het
Vars	A	G	17: 35,014,300	N954S	probably damaging	Het
Wdr17	C	T	8: 54,693,096	A90T	possibly damaging	Het
Wdr33	C	T	18: 31,835,376		probably benign	Het
Zfp236	A	G	18: 82,640,244		probably benign	Het
Zfp445	A	T	9: 122,861,758	V124E	probably damaging	Het
Zfp616	A	T	11: 74,084,822	H639L	probably damaging	Het
Zfyve16	C	A	13: 92,521,477	S642I	probably damaging	Het
Zswim5	C	T	4: 116,985,746	T896I	possibly damaging	Het

Other mutations in Clk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Clk1	APN	1	58413452	missense	possibly damaging	0.93
IGL01516:Clk1	APN	1	58414404	missense	probably damaging	1.00
IGL01684:Clk1	APN	1	58417265	critical splice donor site	probably null
IGL02621:Clk1	APN	1	58414455	missense	probably damaging	1.00
IGL02812:Clk1	APN	1	58414476	missense	probably damaging	0.98
IGL03028:Clk1	APN	1	58421102	nonsense	probably null
IGL03117:Clk1	APN	1	58417007	splice site	probably null
PIT4243001:Clk1	UTSW	1	58419677	missense	probably damaging	1.00
R0149:Clk1	UTSW	1	58414601	missense	probably damaging	1.00
R0309:Clk1	UTSW	1	58413033	splice site	probably benign
R1570:Clk1	UTSW	1	58414425	missense	probably benign	0.28
R1729:Clk1	UTSW	1	58421261	missense	probably damaging	1.00
R1905:Clk1	UTSW	1	58421942	splice site	probably benign
R2382:Clk1	UTSW	1	58421289	missense	probably benign	0.01
R2850:Clk1	UTSW	1	58412279	missense	probably damaging	1.00
R4658:Clk1	UTSW	1	58412987	missense	probably benign	0.01
R4846:Clk1	UTSW	1	58421102	missense	probably benign	0.33
R5011:Clk1	UTSW	1	58414483	missense	probably benign
R5196:Clk1	UTSW	1	58414613	missense	probably benign	0.00
R5699:Clk1	UTSW	1	58420195	missense	probably damaging	1.00
R5838:Clk1	UTSW	1	58412660	missense	probably damaging	1.00
R5839:Clk1	UTSW	1	58421915	missense	probably benign	0.09
R6697:Clk1	UTSW	1	58414622	missense	probably benign	0.21
R7293:Clk1	UTSW	1	58414613	missense	probably benign	0.00
R7332:Clk1	UTSW	1	58412694	missense	probably benign	0.16
R7663:Clk1	UTSW	1	58421160	missense	probably damaging	1.00
Z1176:Clk1	UTSW	1	58417372	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGCTAAGCATCACTTGCTAGTTTCACA -3'
(R):5'- AATGGTGAGCACTTACAGCGTGATT -3'

Sequencing Primer
(F):5'- cacacacctttaatcccaacac -3'
(R):5'- CGCTTTTGCTTTTCAGAAACGTG -3'

Posted On

2013-09-03