Mutagenetix > Incidental Mutation

Incidental Mutation 'R7687:Clk4'

593162

Institutional Source

Beutler Lab

Gene Symbol

Clk4

Ensembl Gene

ENSMUSG00000020385

Gene Name

CDC like kinase 4

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.738) question?

Stock #

R7687 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51153941-51172597 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51172225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 476 (D476G)

Ref Sequence

ENSEMBL: ENSMUSP00000090820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093132] [ENSMUST00000109111] [ENSMUST00000109113]

AlphaFold

O35493

Predicted Effect

probably benign
Transcript: ENSMUST00000093132
AA Change: D476G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000090820
Gene: ENSMUSG00000020385
AA Change: D476G

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
AA Change: D296G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000104739
Gene: ENSMUSG00000020385
AA Change: D296G

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
AA Change: D296G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000104741
Gene: ENSMUSG00000020385
AA Change: D296G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,297,341 (GRCm39)	K2383R	probably benign	Het
Acly	C	T	11: 100,395,680 (GRCm39)		probably null	Het
Baiap3	T	A	17: 25,468,311 (GRCm39)	I276F	possibly damaging	Het
Cdc14b	A	T	13: 64,357,007 (GRCm39)	D419E	probably benign	Het
Celsr2	G	T	3: 108,305,085 (GRCm39)	P2165T	probably benign	Het
Dera	A	G	6: 137,813,878 (GRCm39)	T10A		Het
Dip2c	A	T	13: 9,654,617 (GRCm39)	T742S	probably benign	Het
Dohh	C	A	10: 81,223,640 (GRCm39)	A231E	probably benign	Het
Dot1l	T	G	10: 80,625,202 (GRCm39)	S1150A	possibly damaging	Het
Eea1	T	A	10: 95,862,460 (GRCm39)	I794N	probably benign	Het
En2	T	C	5: 28,375,287 (GRCm39)	S277P	probably damaging	Het
Erich1	A	G	8: 14,080,691 (GRCm39)	L276P	probably damaging	Het
Flnb	A	G	14: 7,924,224 (GRCm38)	N1779S	probably damaging	Het
Frzb	T	A	2: 80,254,979 (GRCm39)	T186S	probably benign	Het
Gdf7	T	A	12: 8,348,257 (GRCm39)	R347*	probably null	Het
Ighv9-4	T	C	12: 114,263,883 (GRCm39)	I17V	not run	Het
Ipo13	G	A	4: 117,769,088 (GRCm39)	P235S	probably benign	Het
Itga2	C	A	13: 115,002,796 (GRCm39)	G565C	probably damaging	Het
Kcnc4	CCCGCCGCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGCCGCCGCCGCCGC	3: 107,365,925 (GRCm39)		probably benign	Het
Kcnk10	A	G	12: 98,401,355 (GRCm39)	I440T	probably damaging	Het
Kdm3a	T	A	6: 71,576,476 (GRCm39)	K779N	possibly damaging	Het
Kmt2d	C	T	15: 98,760,001 (GRCm39)	D1086N	unknown	Het
Kntc1	A	G	5: 123,897,152 (GRCm39)	I172V	probably benign	Het
Maip1	A	G	1: 57,451,003 (GRCm39)	E215G	probably damaging	Het
Mms19	A	T	19: 41,943,607 (GRCm39)	M417K	possibly damaging	Het
Mslnl	T	C	17: 25,962,157 (GRCm39)	V185A	probably damaging	Het
Naa11	A	T	5: 97,539,648 (GRCm39)	V170E	probably benign	Het
Ncapg	C	T	5: 45,857,227 (GRCm39)	P980S	probably benign	Het
Or2aj5	T	C	16: 19,424,485 (GRCm39)	N310S	probably benign	Het
Pbxip1	A	G	3: 89,355,506 (GRCm39)	D675G	probably damaging	Het
Pdlim5	A	G	3: 141,983,608 (GRCm39)	S382P	probably benign	Het
Pkd1l1	T	A	11: 8,804,390 (GRCm39)	I2184F		Het
Plau	A	G	14: 20,889,866 (GRCm39)	Y237C	probably damaging	Het
Ppl	T	C	16: 4,915,806 (GRCm39)	T586A	probably benign	Het
Rapgef6	T	G	11: 54,551,901 (GRCm39)	I923S	possibly damaging	Het
Rbfox2	C	T	15: 77,190,694 (GRCm39)	G17D	unknown	Het
Sema3b	T	C	9: 107,481,013 (GRCm39)	D108G	probably damaging	Het
Slc6a20a	A	G	9: 123,485,331 (GRCm39)	I297T	probably damaging	Het
Slit1	A	G	19: 41,639,128 (GRCm39)	F261L	probably benign	Het
Tcp10a	T	A	17: 7,612,507 (GRCm39)	V433D	probably damaging	Het
Tktl2	A	G	8: 66,965,753 (GRCm39)	E437G	probably damaging	Het
Tll1	G	T	8: 64,574,526 (GRCm39)	Y109*	probably null	Het
Tmem79	A	G	3: 88,239,888 (GRCm39)	V274A	probably damaging	Het
Tnfrsf23	G	A	7: 143,235,199 (GRCm39)	S55L	probably benign	Het
Ubd	T	C	17: 37,504,865 (GRCm39)		probably null	Het
Ubl3	C	A	5: 148,442,985 (GRCm39)	R105L	possibly damaging	Het
Ubl7	A	T	9: 57,821,867 (GRCm39)	D72V	probably damaging	Het
Wdr55	T	C	18: 36,895,076 (GRCm39)	S81P	probably damaging	Het
Wtip	T	C	7: 33,816,044 (GRCm39)	Y344C	probably damaging	Het
Zfp488	A	G	14: 33,692,357 (GRCm39)	S269P	possibly damaging	Het
Zkscan2	A	C	7: 123,099,085 (GRCm39)	S36A	probably benign	Het

Other mutations in Clk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01368:Clk4	APN	11	51,171,999 (GRCm39)	nonsense	probably null
B6819:Clk4	UTSW	11	51,166,593 (GRCm39)	unclassified	probably benign
K7894:Clk4	UTSW	11	51,166,593 (GRCm39)	unclassified	probably benign
R0001:Clk4	UTSW	11	51,159,592 (GRCm39)	splice site	probably benign
R0466:Clk4	UTSW	11	51,158,155 (GRCm39)	missense	possibly damaging	0.59
R0692:Clk4	UTSW	11	51,172,155 (GRCm39)	nonsense	probably null
R0719:Clk4	UTSW	11	51,166,320 (GRCm39)	nonsense	probably null
R0723:Clk4	UTSW	11	51,166,320 (GRCm39)	nonsense	probably null
R1277:Clk4	UTSW	11	51,158,016 (GRCm39)	missense	probably benign
R1714:Clk4	UTSW	11	51,171,245 (GRCm39)	missense	probably damaging	1.00
R4804:Clk4	UTSW	11	51,172,150 (GRCm39)	missense	probably damaging	1.00
R5141:Clk4	UTSW	11	51,166,598 (GRCm39)	missense	possibly damaging	0.79
R5399:Clk4	UTSW	11	51,166,084 (GRCm39)	missense	probably damaging	1.00
R6182:Clk4	UTSW	11	51,159,009 (GRCm39)	missense	possibly damaging	0.66
R6274:Clk4	UTSW	11	51,162,748 (GRCm39)	missense	possibly damaging	0.69
R6480:Clk4	UTSW	11	51,161,373 (GRCm39)	nonsense	probably null
R6759:Clk4	UTSW	11	51,166,401 (GRCm39)	missense	possibly damaging	0.95
R6843:Clk4	UTSW	11	51,167,076 (GRCm39)	critical splice donor site	probably null
R7138:Clk4	UTSW	11	51,168,759 (GRCm39)	missense	probably damaging	1.00
R7186:Clk4	UTSW	11	51,159,607 (GRCm39)	missense	probably benign	0.00
R7235:Clk4	UTSW	11	51,167,012 (GRCm39)	missense	probably damaging	0.98
R7842:Clk4	UTSW	11	51,171,956 (GRCm39)	missense	probably benign	0.00
R8073:Clk4	UTSW	11	51,168,716 (GRCm39)	missense	probably benign	0.29
R8515:Clk4	UTSW	11	51,166,088 (GRCm39)	missense	probably damaging	0.97
R8516:Clk4	UTSW	11	51,166,088 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGTAACATCTTCAGCCATGTCTTC -3'
(R):5'- TTTATCACTGGACACAAAGGGC -3'

Sequencing Primer
(F):5'- CAGCCATGTCTTCATTTAACAAGGC -3'
(R):5'- GGGCATTCTAAAAGCCTTTAAAGTGG -3'

Posted On

2019-11-12