Mutagenetix > Incidental Mutation

Incidental Mutation 'R6480:Clk4'

540732

Institutional Source

Beutler Lab

Gene Symbol

Clk4

Ensembl Gene

ENSMUSG00000020385

Gene Name

CDC like kinase 4

Synonyms

MMRRC Submission

044612-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.738) question?

Stock #

R6480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51153941-51172597 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 51161373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 86 (C86*)

Ref Sequence

ENSEMBL: ENSMUSP00000115894 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000126131] [ENSMUST00000148053] [ENSMUST00000153414]

AlphaFold

O35493

Predicted Effect

probably null
Transcript: ENSMUST00000126131
AA Change: C60*

SMART Domains

Protein: ENSMUSP00000118972
Gene: ENSMUSG00000020385
AA Change: C60*

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

Predicted Effect

probably null
Transcript: ENSMUST00000148053
AA Change: C86*

SMART Domains

Protein: ENSMUSP00000120822
Gene: ENSMUSG00000020385
AA Change: C86*

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

Predicted Effect

probably null
Transcript: ENSMUST00000153414
AA Change: C86*

SMART Domains

Protein: ENSMUSP00000115894
Gene: ENSMUSG00000020385
AA Change: C86*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

98% (57/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl8b	T	A	6: 108,792,010 (GRCm39)	N90K	possibly damaging	Het
Art3	T	C	5: 92,540,676 (GRCm39)	F140L	probably damaging	Het
Ascc3	T	A	10: 50,587,049 (GRCm39)	M967K	probably damaging	Het
Ccne1	G	A	7: 37,806,279 (GRCm39)		probably benign	Het
Cdc14b	T	C	13: 64,373,464 (GRCm39)		probably null	Het
Ceacam2	T	A	7: 25,219,414 (GRCm39)	E282V	probably damaging	Het
Cul2	A	C	18: 3,417,561 (GRCm39)	K115T	possibly damaging	Het
Dhx29	A	T	13: 113,090,322 (GRCm39)	K800*	probably null	Het
Dlec1	T	C	9: 118,976,758 (GRCm39)	F1741S	probably benign	Het
Dnah12	A	G	14: 26,594,412 (GRCm39)	T3455A	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Drd4	A	T	7: 140,874,706 (GRCm39)	I366F	possibly damaging	Het
Fam169b	T	A	7: 68,003,466 (GRCm39)	Y273*	probably null	Het
Fbn1	T	A	2: 125,177,338 (GRCm39)	Y1833F	probably benign	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gjb6	T	C	14: 57,361,899 (GRCm39)	I121V	probably benign	Het
Glg1	T	C	8: 111,924,338 (GRCm39)	T217A	possibly damaging	Het
Igkv5-48	A	G	6: 69,703,810 (GRCm39)	S32P	probably benign	Het
Itgax	C	A	7: 127,747,771 (GRCm39)	F1062L	probably benign	Het
Lct	G	A	1: 128,222,057 (GRCm39)	T1494I	probably damaging	Het
Lilra6	G	A	7: 3,915,932 (GRCm39)	T309I	probably damaging	Het
Mical3	T	C	6: 121,011,236 (GRCm39)	T321A	possibly damaging	Het
Mmp23	T	A	4: 155,736,798 (GRCm39)	N104I	probably damaging	Het
Muc17	T	C	5: 137,171,238 (GRCm39)	Y131C		Het
Naip2	A	C	13: 100,298,549 (GRCm39)	S496A	probably benign	Het
Ndufs2	A	G	1: 171,064,267 (GRCm39)	S348P	probably damaging	Het
Nepro	T	C	16: 44,547,438 (GRCm39)	S52P	probably damaging	Het
Nlrp6	A	G	7: 140,507,356 (GRCm39)	E874G	possibly damaging	Het
Nsmce1	A	G	7: 125,090,590 (GRCm39)	V9A	probably benign	Het
Or1q1	T	C	2: 36,887,007 (GRCm39)	F62L	probably benign	Het
Or2a7	T	C	6: 43,151,000 (GRCm39)	F27L	probably benign	Het
Or5b105	T	A	19: 13,079,838 (GRCm39)	T277S	probably benign	Het
Or6c3	A	T	10: 129,308,590 (GRCm39)	I10F	possibly damaging	Het
Per2	A	T	1: 91,357,104 (GRCm39)		probably null	Het
Pgbd1	T	C	13: 21,607,646 (GRCm39)	I183V	probably benign	Het
Pik3c2g	T	C	6: 139,676,195 (GRCm39)	V113A	probably benign	Het
Pipox	A	G	11: 77,773,474 (GRCm39)	L259P	probably damaging	Het
Pkd1l3	C	T	8: 110,365,019 (GRCm39)	Q1124*	probably null	Het
Plcd3	A	G	11: 102,965,757 (GRCm39)	S492P	possibly damaging	Het
Rcor2	T	G	19: 7,248,411 (GRCm39)	M142R	probably benign	Het
Rwdd3	T	C	3: 120,950,101 (GRCm39)	E115G	probably damaging	Het
Slc13a3	T	C	2: 165,250,818 (GRCm39)	Y475C	probably damaging	Het
Slc14a2	A	T	18: 78,202,297 (GRCm39)	I611N	possibly damaging	Het
Slc25a24	G	T	3: 109,043,617 (GRCm39)	M91I	probably damaging	Het
Spg11	T	C	2: 121,922,786 (GRCm39)	S888G	probably benign	Het
Spta1	A	T	1: 174,014,714 (GRCm39)		probably null	Het
Stk35	C	A	2: 129,652,607 (GRCm39)	D369E	possibly damaging	Het
Tanc1	T	C	2: 59,637,986 (GRCm39)	S889P	probably damaging	Het
Tbc1d10b	T	C	7: 126,798,050 (GRCm39)	N697S	probably damaging	Het
Tcof1	A	T	18: 60,947,852 (GRCm39)		probably null	Het
Tg	T	A	15: 66,543,160 (GRCm39)	Y25N	probably damaging	Het
Thbs1	T	C	2: 117,949,598 (GRCm39)	C563R	probably damaging	Het
Tlr11	A	G	14: 50,600,512 (GRCm39)	S833G	possibly damaging	Het
Uggt2	T	A	14: 119,294,976 (GRCm39)	H550L	probably benign	Het
Utp20	A	G	10: 88,591,048 (GRCm39)		probably null	Het
Wbp1l	T	A	19: 46,642,758 (GRCm39)	L253Q	probably damaging	Het
Zfp433	T	A	10: 81,556,078 (GRCm39)	S161R	possibly damaging	Het
Zfp865	A	G	7: 5,032,782 (GRCm39)	T256A	probably damaging	Het
Zpr1	A	G	9: 46,186,009 (GRCm39)	D160G	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
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
R7687:Clk4	UTSW	11	51,172,225 (GRCm39)	missense	probably benign	0.02
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'- AATAGATGCCAGTCTTGTTGGG -3'
(R):5'- TTCTAGTGCCCCAGTGCATC -3'

Sequencing Primer
(F):5'- AGTCCTAGGGATGTTTCTATTTCTGC -3'
(R):5'- CAGACTCCTTTGAGAACCTGATGG -3'

Posted On

2018-11-19