Mutagenetix > Incidental Mutation

Incidental Mutation 'R0149:Clk1'

22685

Institutional Source

Beutler Lab

Gene Symbol

Clk1

Ensembl Gene

ENSMUSG00000026034

Gene Name

CDC-like kinase 1

Synonyms

Clk1, STY

MMRRC Submission

038433-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0149 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

58451147-58463247 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58453760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 305 (N305Y)

Ref Sequence

ENSEMBL: ENSMUSP00000034868 (fasta)

Gene Model

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

AlphaFold

P22518

Predicted Effect

probably damaging
Transcript: ENSMUST00000034868
AA Change: N305Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034868
Gene: ENSMUSG00000026034
AA Change: N305Y

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: ENSMUST00000156931

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141570

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186552

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

Meta Mutation Damage Score

0.5998

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

97% (84/87)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	C	8: 12,330,000 (GRCm39)	S152R	unknown	Het
Acsbg2	A	G	17: 57,160,924 (GRCm39)		probably benign	Het
Adam6a	G	T	12: 113,509,369 (GRCm39)	V581F	probably damaging	Het
Adgrl3	A	T	5: 81,908,544 (GRCm39)	I1165F	probably damaging	Het
Aldh1l1	A	G	6: 90,566,396 (GRCm39)	K656E	possibly damaging	Het
Ankhd1	T	C	18: 36,780,267 (GRCm39)	I1773T	probably damaging	Het
Api5	A	T	2: 94,253,842 (GRCm39)	L287*	probably null	Het
Ascc3	A	T	10: 50,484,089 (GRCm39)	N55I	probably benign	Het
Cav1	C	A	6: 17,339,352 (GRCm39)	R146S	possibly damaging	Het
Cdhr2	A	T	13: 54,881,820 (GRCm39)	I1118F	probably damaging	Het
Cemip	A	G	7: 83,613,218 (GRCm39)	I660T	probably benign	Het
Cux1	T	A	5: 136,308,351 (GRCm39)	I1263F	probably damaging	Het
Cyp2d26	A	G	15: 82,676,968 (GRCm39)	L152P	probably damaging	Het
Dmtf1	A	G	5: 9,182,571 (GRCm39)	S188P	probably damaging	Het
Dock2	A	G	11: 34,388,327 (GRCm39)	L202P	probably damaging	Het
Dscaml1	T	G	9: 45,653,978 (GRCm39)	Y1418*	probably null	Het
Efemp2	A	T	19: 5,527,988 (GRCm39)	H107L	probably damaging	Het
Eng	T	C	2: 32,562,397 (GRCm39)		probably null	Het
Erc1	A	T	6: 119,801,791 (GRCm39)	S75R	probably damaging	Het
Fgl2	A	T	5: 21,580,783 (GRCm39)	D375V	probably damaging	Het
Fpr-rs6	T	C	17: 20,402,475 (GRCm39)	I295M	probably benign	Het
Fsip2	T	C	2: 82,805,849 (GRCm39)	S723P	possibly damaging	Het
Gdpd5	A	G	7: 99,107,997 (GRCm39)	I530V	possibly damaging	Het
Gm15217	T	A	14: 46,617,841 (GRCm39)		probably benign	Het
Gm4922	T	C	10: 18,659,289 (GRCm39)	T478A	probably benign	Het
Gmcl1	A	T	6: 86,709,891 (GRCm39)		probably null	Het
Has1	T	C	17: 18,070,433 (GRCm39)	T163A	probably damaging	Het
Hmcn1	A	T	1: 150,553,075 (GRCm39)	N2538K	probably benign	Het
Itga2	A	G	13: 114,973,115 (GRCm39)		probably benign	Het
Kcnip1	A	T	11: 33,793,177 (GRCm39)	M5K	probably benign	Het
Kcnk4	T	C	19: 6,903,562 (GRCm39)	E329G	probably benign	Het
Kcnt1	T	C	2: 25,788,276 (GRCm39)		probably benign	Het
Klkb1	A	G	8: 45,729,100 (GRCm39)	C375R	probably damaging	Het
Loxl2	C	A	14: 69,930,527 (GRCm39)	H764N	probably benign	Het
Lrrc55	A	T	2: 85,026,589 (GRCm39)	M145K	probably damaging	Het
Lrrtm2	A	G	18: 35,345,985 (GRCm39)	I439T	probably benign	Het
Magi1	A	T	6: 93,724,226 (GRCm39)	I263N	probably damaging	Het
Map4	C	T	9: 109,896,692 (GRCm39)	P641L	probably damaging	Het
Mars1	A	T	10: 127,135,903 (GRCm39)	N558K	probably damaging	Het
Mfap2	A	G	4: 140,742,294 (GRCm39)	D98G	probably damaging	Het
Mgat5b	A	G	11: 116,875,965 (GRCm39)		probably benign	Het
Mki67	A	T	7: 135,300,153 (GRCm39)	V1627D	probably benign	Het
Mtnr1a	A	T	8: 45,522,352 (GRCm39)	I36F	probably benign	Het
Myh15	A	T	16: 48,934,368 (GRCm39)	N645I	probably benign	Het
Myo7b	T	A	18: 32,147,262 (GRCm39)	I94F	probably damaging	Het
Nefh	A	T	11: 4,890,799 (GRCm39)	S607T	probably benign	Het
Ngf	T	A	3: 102,427,762 (GRCm39)	H174Q	probably benign	Het
Noa1	G	A	5: 77,445,020 (GRCm39)	Q600*	probably null	Het
Nr2f2	A	G	7: 70,007,810 (GRCm39)	V71A	possibly damaging	Het
Oas2	A	T	5: 120,876,466 (GRCm39)	F492L	probably damaging	Het
Or2y17	A	T	11: 49,231,641 (GRCm39)	Y94F	probably benign	Het
Or8g21	T	A	9: 38,905,880 (GRCm39)	M284L	probably benign	Het
Osmr	A	G	15: 6,871,432 (GRCm39)		probably null	Het
P4ha1	A	G	10: 59,184,221 (GRCm39)	T228A	probably damaging	Het
Pip5kl1	T	C	2: 32,468,966 (GRCm39)	V195A	possibly damaging	Het
Plagl2	A	T	2: 153,073,523 (GRCm39)	D459E	probably benign	Het
Plxna1	T	C	6: 89,297,595 (GRCm39)	E1863G	probably null	Het
Prdm10	T	G	9: 31,227,455 (GRCm39)		probably benign	Het
Prr14l	A	C	5: 32,950,985 (GRCm39)	L1936R	probably damaging	Het
Rgs1	T	C	1: 144,124,825 (GRCm39)		probably benign	Het
Rgsl1	A	G	1: 153,669,510 (GRCm39)	F292S	probably damaging	Het
Rhobtb2	T	C	14: 70,033,357 (GRCm39)	T538A	probably benign	Het
Rictor	A	G	15: 6,813,588 (GRCm39)	N1025D	possibly damaging	Het
Rsph10b	T	A	5: 143,875,727 (GRCm39)		probably benign	Het
Rwdd4a	A	G	8: 47,997,255 (GRCm39)	D158G	probably null	Het
Sdk1	T	C	5: 141,842,809 (GRCm39)		probably benign	Het
Serpina3n	A	C	12: 104,377,635 (GRCm39)	K296T	probably benign	Het
Slco1a8	T	C	6: 141,938,203 (GRCm39)	T239A	probably benign	Het
Snw1	A	G	12: 87,508,687 (GRCm39)	V124A	possibly damaging	Het
Tas2r140	T	G	6: 40,468,232 (GRCm39)	F21V	probably benign	Het
Tmc6	G	A	11: 117,660,274 (GRCm39)	L655F	probably damaging	Het
Tmem260	A	T	14: 48,689,504 (GRCm39)	T108S	possibly damaging	Het
Trim2	T	C	3: 84,098,083 (GRCm39)	Y406C	probably damaging	Het
Tsc1	T	C	2: 28,560,913 (GRCm39)	I257T	probably damaging	Het
Ttn	T	C	2: 76,673,746 (GRCm39)		probably benign	Het
Unc80	T	A	1: 66,560,760 (GRCm39)	N829K	possibly damaging	Het
Vmn1r235	A	C	17: 21,482,257 (GRCm39)	D194A	probably damaging	Het
Vmn2r100	A	T	17: 19,741,509 (GRCm39)		probably null	Het
Ylpm1	G	T	12: 85,075,612 (GRCm39)	R321L	probably damaging	Het
Zan	T	C	5: 137,395,028 (GRCm39)	T4381A	unknown	Het
Zfp457	A	G	13: 67,440,710 (GRCm39)	F622L	probably damaging	Het
Zfy1	T	C	Y: 726,121 (GRCm39)	H548R	possibly damaging	Het
Zmym4	A	T	4: 126,804,938 (GRCm39)	S441T	probably benign	Het

Other mutations in Clk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Clk1	APN	1	58,452,611 (GRCm39)	missense	possibly damaging	0.93
IGL01516:Clk1	APN	1	58,453,563 (GRCm39)	missense	probably damaging	1.00
IGL01684:Clk1	APN	1	58,456,424 (GRCm39)	critical splice donor site	probably null
IGL02621:Clk1	APN	1	58,453,614 (GRCm39)	missense	probably damaging	1.00
IGL02812:Clk1	APN	1	58,453,635 (GRCm39)	missense	probably damaging	0.98
IGL03028:Clk1	APN	1	58,460,261 (GRCm39)	nonsense	probably null
IGL03117:Clk1	APN	1	58,456,166 (GRCm39)	splice site	probably null
PIT4243001:Clk1	UTSW	1	58,458,836 (GRCm39)	missense	probably damaging	1.00
R0309:Clk1	UTSW	1	58,452,192 (GRCm39)	splice site	probably benign
R0730:Clk1	UTSW	1	58,453,558 (GRCm39)	missense	probably benign	0.38
R1570:Clk1	UTSW	1	58,453,584 (GRCm39)	missense	probably benign	0.28
R1729:Clk1	UTSW	1	58,460,420 (GRCm39)	missense	probably damaging	1.00
R1905:Clk1	UTSW	1	58,461,101 (GRCm39)	splice site	probably benign
R2382:Clk1	UTSW	1	58,460,448 (GRCm39)	missense	probably benign	0.01
R2850:Clk1	UTSW	1	58,451,438 (GRCm39)	missense	probably damaging	1.00
R4658:Clk1	UTSW	1	58,452,146 (GRCm39)	missense	probably benign	0.01
R4846:Clk1	UTSW	1	58,460,261 (GRCm39)	missense	probably benign	0.33
R5011:Clk1	UTSW	1	58,453,642 (GRCm39)	missense	probably benign
R5196:Clk1	UTSW	1	58,453,772 (GRCm39)	missense	probably benign	0.00
R5699:Clk1	UTSW	1	58,459,354 (GRCm39)	missense	probably damaging	1.00
R5838:Clk1	UTSW	1	58,451,819 (GRCm39)	missense	probably damaging	1.00
R5839:Clk1	UTSW	1	58,461,074 (GRCm39)	missense	probably benign	0.09
R6697:Clk1	UTSW	1	58,453,781 (GRCm39)	missense	probably benign	0.21
R7293:Clk1	UTSW	1	58,453,772 (GRCm39)	missense	probably benign	0.00
R7332:Clk1	UTSW	1	58,451,853 (GRCm39)	missense	probably benign	0.16
R7663:Clk1	UTSW	1	58,460,319 (GRCm39)	missense	probably damaging	1.00
R8550:Clk1	UTSW	1	58,451,835 (GRCm39)	missense	probably damaging	0.99
R9090:Clk1	UTSW	1	58,459,312 (GRCm39)	missense	possibly damaging	0.81
R9268:Clk1	UTSW	1	58,458,882 (GRCm39)	missense	unknown
R9271:Clk1	UTSW	1	58,459,312 (GRCm39)	missense	possibly damaging	0.81
Z1176:Clk1	UTSW	1	58,456,531 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTTGCACTTCCAAAGTCCACCAC -3'
(R):5'- TCTGACAATCTCAGCCAGGCCG -3'

Sequencing Primer
(F):5'- CAAAGTCCACCACTTTAATATCTGG -3'
(R):5'- ccacaggggaagtattaggaaag -3'

Posted On

2013-04-16