Mutagenetix > Incidental Mutation

Incidental Mutation 'R0001:Clk4'

32254

Institutional Source

Beutler Lab

Gene Symbol

Clk4

Ensembl Gene

ENSMUSG00000020385

Gene Name

CDC like kinase 4

Synonyms

MMRRC Submission

038297-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.730) question?

Stock #

R0001 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

51261730-51281766 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 51268765 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115894 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093132] [ENSMUST00000109111] [ENSMUST00000109113] [ENSMUST00000126131] [ENSMUST00000130641] [ENSMUST00000148053] [ENSMUST00000153414]

AlphaFold

O35493

Predicted Effect

probably benign
Transcript: ENSMUST00000093132

SMART Domains

Protein: ENSMUSP00000090820
Gene: ENSMUSG00000020385

Domain	Start	End	E-Value	Type
low complexity region	22	36	N/A	INTRINSIC
low complexity region	63	80	N/A	INTRINSIC
low complexity region	102	119	N/A	INTRINSIC
low complexity region	123	138	N/A	INTRINSIC
S_TKc	159	475	1.58e-76	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109111

SMART Domains

Protein: ENSMUSP00000104739
Gene: ENSMUSG00000020385

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	225	3.3e-20	PFAM
Pfam:Pkinase	1	295	5.4e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109113

SMART Domains

Protein: ENSMUSP00000104741
Gene: ENSMUSG00000020385

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	225	3.3e-20	PFAM
Pfam:Pkinase	1	295	5.4e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126131

SMART Domains

Protein: ENSMUSP00000118972
Gene: ENSMUSG00000020385

Domain	Start	End	E-Value	Type
low complexity region	63	74	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130641

SMART Domains

Protein: ENSMUSP00000123133
Gene: ENSMUSG00000020385

Domain	Start	End	E-Value	Type
low complexity region	66	83	N/A	INTRINSIC
low complexity region	105	122	N/A	INTRINSIC
low complexity region	126	141	N/A	INTRINSIC
PDB:2VAG\|A	149	182	2e-14	PDB
SCOP:d1howa_	149	182	2e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133200

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136587

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146776

Predicted Effect

probably benign
Transcript: ENSMUST00000148053

SMART Domains

Protein: ENSMUSP00000120822
Gene: ENSMUSG00000020385

Domain	Start	End	E-Value	Type
low complexity region	89	100	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148467

Predicted Effect

probably benign
Transcript: ENSMUST00000153414

SMART Domains

Protein: ENSMUSP00000115894
Gene: ENSMUSG00000020385

Domain	Start	End	E-Value	Type
low complexity region	89	100	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177296

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

99% (76/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the CDC2-like protein kinase (CLK) family. This protein kinase can interact with and phosphorylate the serine- and arginine-rich (SR) proteins, which are known to play an important role in the formation of spliceosomes, and thus may be involved in the regulation of alternative splicing. Studies in the Israeli sand rat Psammomys obesus suggested that the ubiquitin-like 5 (UBL5/BEACON), a highly conserved ubiquitin-like protein, may interact with and regulate the activity of this kinase. Multiple alternatively spliced transcript variants have been observed, but the full-length natures of which have not yet been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	G	A	19: 58,789,171	A61V	probably damaging	Het
2900092C05Rik	T	A	7: 12,554,607		probably benign	Het
A4galt	A	G	15: 83,228,289	F98L	probably benign	Het
Abca4	T	G	3: 122,081,011		probably benign	Het
Acacb	C	T	5: 114,204,833		probably benign	Het
Agbl1	A	T	7: 76,419,863	H367L	probably damaging	Het
Apoa4	C	A	9: 46,242,892	Q264K	probably benign	Het
Camsap2	A	T	1: 136,282,888		probably benign	Het
Cdan1	C	A	2: 120,723,751	R939L	probably benign	Het
Ceacam18	G	A	7: 43,636,876	V58I	possibly damaging	Het
Ciita	A	T	16: 10,514,433		probably benign	Het
Cntnap2	T	C	6: 46,530,171	D215G	probably benign	Het
Col11a2	T	C	17: 34,061,612	S1218P	probably benign	Het
Col20a1	T	C	2: 180,984,412		probably benign	Het
Ctsb	A	G	14: 63,135,622	E76G	probably benign	Het
Ctu2	T	C	8: 122,478,920	C161R	probably benign	Het
Dhx29	T	C	13: 112,964,556	L1211P	probably damaging	Het
Dhx9	G	T	1: 153,462,636	T759K	probably damaging	Het
Dmxl1	T	C	18: 49,888,897		probably benign	Het
Dpysl3	C	T	18: 43,358,375	E226K	possibly damaging	Het
Eif2d	A	T	1: 131,168,127	K453*	probably null	Het
Epha7	T	C	4: 28,961,279		probably benign	Het
Fam160b1	T	A	19: 57,381,756	H477Q	probably benign	Het
Fat3	T	C	9: 16,377,873	D118G	probably damaging	Het
Foxn4	T	A	5: 114,260,870	Q159L	probably damaging	Het
Frs2	G	T	10: 117,074,876	H194N	possibly damaging	Het
Fut8	A	T	12: 77,475,315	*576L	probably null	Het
Galns	T	C	8: 122,595,883		probably benign	Het
Gamt	G	A	10: 80,259,061		probably benign	Het
Gpn1	T	A	5: 31,495,617		probably benign	Het
Ipcef1	G	T	10: 6,900,600	H330Q	probably damaging	Het
Itga4	A	C	2: 79,326,587	Y1024S	probably damaging	Het
Jak2	A	G	19: 29,282,387	I229V	probably benign	Het
Katnal1	A	G	5: 148,921,275	S42P	probably damaging	Het
Kcnu1	A	T	8: 25,859,270	D142V	probably damaging	Het
Lig3	C	T	11: 82,790,591	R470W	probably damaging	Het
Mgat4c	A	G	10: 102,388,956	S344G	probably benign	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Mipol1	C	T	12: 57,460,839		probably benign	Het
Mki67	C	T	7: 135,699,172	V1378M	probably damaging	Het
Mki67	T	A	7: 135,701,019	D762V	probably damaging	Het
Mmp9	A	G	2: 164,948,383	T43A	probably benign	Het
Muc6	T	C	7: 141,641,574	T1316A	possibly damaging	Het
Naip5	A	G	13: 100,214,650		probably null	Het
Naip5	C	A	13: 100,223,114	S538I	probably benign	Het
Nek3	A	T	8: 22,158,612		probably benign	Het
Nlrp1b	A	G	11: 71,161,759	S948P	probably damaging	Het
Nyap2	A	T	1: 81,192,107	H193L	probably benign	Het
Olfr1413	A	G	1: 92,573,461	K97E	possibly damaging	Het
Olfr648	T	A	7: 104,179,473	K312*	probably null	Het
Patl2	G	A	2: 122,125,710		probably benign	Het
Pcdhb11	A	T	18: 37,423,989	R791W	probably benign	Het
Pkd1l3	C	A	8: 109,628,633		probably benign	Het
Pkn2	A	T	3: 142,828,988	V73D	probably benign	Het
Pknox1	A	T	17: 31,599,636	H281L	probably damaging	Het
Polr3a	A	G	14: 24,452,189		probably benign	Het
Prss38	A	G	11: 59,373,180		probably benign	Het
Rad54l2	A	G	9: 106,708,217	F783S	probably damaging	Het
Rbm5	T	C	9: 107,742,424	R125G	probably damaging	Het
Rnpep	A	G	1: 135,272,485		probably benign	Het
Slc1a5	T	A	7: 16,793,637		probably null	Het
Slc22a4	G	A	11: 54,028,003		probably benign	Het
Spink12	T	C	18: 44,107,696	C50R	probably damaging	Het
Svep1	G	A	4: 58,066,460	T3208I	possibly damaging	Het
Tgm5	G	T	2: 121,077,646	D16E	probably damaging	Het
Tpp2	A	G	1: 43,971,726	N558D	probably benign	Het
Trappc9	A	T	15: 72,963,662	L507Q	probably damaging	Het
Trpm3	A	T	19: 22,715,331	Q262L	possibly damaging	Het
Ttn	A	G	2: 76,776,972		probably benign	Het
Ttn	G	A	2: 76,832,089		probably benign	Het
Ubr4	T	A	4: 139,451,788	L3316Q	probably damaging	Het
Uckl1	T	A	2: 181,574,655	Y136F	probably damaging	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vps39	A	G	2: 120,318,053	V870A	probably benign	Het
Zdhhc25	A	G	15: 88,600,909	D149G	probably benign	Het
Zfp648	C	T	1: 154,205,286	T397M	probably damaging	Het
Zic2	C	A	14: 122,478,957	T435K	probably damaging	Het

Other mutations in Clk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01368:Clk4	APN	11	51281172	nonsense	probably null
B6819:Clk4	UTSW	11	51275766	unclassified	probably benign
K7894:Clk4	UTSW	11	51275766	unclassified	probably benign
R0466:Clk4	UTSW	11	51267328	missense	possibly damaging	0.59
R0692:Clk4	UTSW	11	51281328	nonsense	probably null
R0719:Clk4	UTSW	11	51275493	nonsense	probably null
R0723:Clk4	UTSW	11	51275493	nonsense	probably null
R1277:Clk4	UTSW	11	51267189	missense	probably benign
R1714:Clk4	UTSW	11	51280418	missense	probably damaging	1.00
R4804:Clk4	UTSW	11	51281323	missense	probably damaging	1.00
R5141:Clk4	UTSW	11	51275771	missense	possibly damaging	0.79
R5399:Clk4	UTSW	11	51275257	missense	probably damaging	1.00
R6182:Clk4	UTSW	11	51268182	missense	possibly damaging	0.66
R6274:Clk4	UTSW	11	51271921	missense	possibly damaging	0.69
R6480:Clk4	UTSW	11	51270546	nonsense	probably null
R6759:Clk4	UTSW	11	51275574	missense	possibly damaging	0.95
R6843:Clk4	UTSW	11	51276249	critical splice donor site	probably null
R7138:Clk4	UTSW	11	51277932	missense	probably damaging	1.00
R7186:Clk4	UTSW	11	51268780	missense	probably benign	0.00
R7235:Clk4	UTSW	11	51276185	missense	probably damaging	0.98
R7687:Clk4	UTSW	11	51281398	missense	probably benign	0.02
R7842:Clk4	UTSW	11	51281129	missense	probably benign	0.00
R8073:Clk4	UTSW	11	51277889	missense	probably benign	0.29
R8515:Clk4	UTSW	11	51275261	missense	probably damaging	0.97
R8516:Clk4	UTSW	11	51275261	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GGTGCTGGATAAGGTTATGGCAAGAT -3'
(R):5'- GCTACTGCCAAAAGACAAATCAGGAGAA -3'

Sequencing Primer
(F):5'- GTTATGGCAAGATTCAGTAACCAGAC -3'
(R):5'- CAGGTTAGGAAAACCATTTAAAACAG -3'

Posted On

2013-05-09