Mutagenetix > Incidental Mutation

Incidental Mutation 'R7235:Clk4'

562779

Institutional Source

Beutler Lab

Gene Symbol

Clk4

Ensembl Gene

ENSMUSG00000020385

Gene Name

CDC like kinase 4

Synonyms

MMRRC Submission

045305-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.738) question?

Stock #

R7235 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51153941-51172597 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51167012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 330 (D330G)

Ref Sequence

ENSEMBL: ENSMUSP00000090820 (fasta)

Gene Model

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

AlphaFold

O35493

Predicted Effect

probably damaging
Transcript: ENSMUST00000093132
AA Change: D330G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090820
Gene: ENSMUSG00000020385
AA Change: D330G

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 damaging
Transcript: ENSMUST00000109111
AA Change: D150G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104739
Gene: ENSMUSG00000020385
AA Change: D150G

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 damaging
Transcript: ENSMUST00000109113
AA Change: D150G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104741
Gene: ENSMUSG00000020385
AA Change: D150G

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

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

probably benign
Transcript: ENSMUST00000153414

SMART Domains

Protein: ENSMUSP00000115894
Gene: ENSMUSG00000020385

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (61/62)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 8,989,852 (GRCm39)	M3712K	unknown	Het
Bri3bp	A	G	5: 125,518,748 (GRCm39)	E8G	unknown	Het
Brip1	C	T	11: 86,029,701 (GRCm39)	R611Q	possibly damaging	Het
Carm1	T	G	9: 21,498,701 (GRCm39)		probably benign	Het
Catsper4	A	T	4: 133,939,892 (GRCm39)		probably null	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cip2a	T	A	16: 48,821,422 (GRCm39)	L176H	probably damaging	Het
Dcdc2c	A	G	12: 28,520,718 (GRCm39)	S453P		Het
Ddx46	G	A	13: 55,811,053 (GRCm39)	V550I	probably benign	Het
Dennd1a	T	C	2: 37,691,073 (GRCm39)	N676D	probably benign	Het
Dnah3	T	C	7: 119,631,893 (GRCm39)	N1365S	probably damaging	Het
Dsg1b	T	C	18: 20,532,480 (GRCm39)	V508A	probably benign	Het
Dus2	T	C	8: 106,742,587 (GRCm39)	V39A	possibly damaging	Het
Dync1li1	T	C	9: 114,544,231 (GRCm39)	V301A	possibly damaging	Het
Efcc1	T	G	6: 87,730,780 (GRCm39)	S513A	probably benign	Het
Eif3f	T	C	7: 108,537,295 (GRCm39)	V167A	possibly damaging	Het
Ephb2	A	G	4: 136,421,139 (GRCm39)	Y404H	probably damaging	Het
Eqtn	A	T	4: 94,811,936 (GRCm39)	D152E	probably damaging	Het
Ercc5	A	C	1: 44,217,363 (GRCm39)	K902T	possibly damaging	Het
Erlec1	T	A	11: 30,900,751 (GRCm39)	E139V	possibly damaging	Het
Evl	G	A	12: 108,614,719 (GRCm39)	G38R	probably damaging	Het
Fads2b	T	G	2: 85,330,563 (GRCm39)	H248P	probably damaging	Het
Foxd2	T	C	4: 114,765,468 (GRCm39)	N184S	unknown	Het
Frem3	T	C	8: 81,417,354 (GRCm39)	Y2020H	probably benign	Het
Ganc	T	C	2: 120,264,198 (GRCm39)	F384L	probably damaging	Het
Grin2a	A	G	16: 9,397,129 (GRCm39)	L986P	probably damaging	Het
Ift140	A	T	17: 25,239,619 (GRCm39)	D92V	possibly damaging	Het
Inpp5b	A	G	4: 124,645,185 (GRCm39)	K158E	probably benign	Het
Iscu	T	A	5: 113,914,943 (GRCm39)	S152T	probably benign	Het
Isl2	C	T	9: 55,451,455 (GRCm39)	T115I	probably benign	Het
Kalrn	T	A	16: 33,996,131 (GRCm39)	T1542S	probably benign	Het
Kat6a	A	G	8: 23,404,285 (GRCm39)	D454G	possibly damaging	Het
Kcnj10	T	C	1: 172,196,993 (GRCm39)	I169T	probably damaging	Het
Klk12	T	C	7: 43,422,723 (GRCm39)	S217P	probably damaging	Het
Lancl1	T	C	1: 67,077,694 (GRCm39)	N14S	probably benign	Het
Map2	A	G	1: 66,453,807 (GRCm39)	Y899C	probably damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Nr1h5	C	T	3: 102,856,358 (GRCm39)		probably null	Het
Nup98	T	C	7: 101,774,491 (GRCm39)	T1515A	probably damaging	Het
Obscn	A	C	11: 58,971,666 (GRCm39)	V2183G	probably damaging	Het
Or52n2	C	T	7: 104,541,926 (GRCm39)	R303Q	probably benign	Het
Osbpl8	A	G	10: 111,105,288 (GRCm39)	T248A	probably benign	Het
Pias3	T	A	3: 96,611,679 (GRCm39)	S533T	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plxna1	A	G	6: 89,317,573 (GRCm39)	Y680H	probably damaging	Het
Pnliprp2	A	G	19: 58,763,659 (GRCm39)	N436S	probably benign	Het
Pold1	T	A	7: 44,191,244 (GRCm39)	M196L	probably benign	Het
Prkdc	G	A	16: 15,532,127 (GRCm39)	V1464I	probably benign	Het
Ptk2b	G	A	14: 66,394,536 (GRCm39)	Q857*	probably null	Het
Qars1	T	A	9: 108,387,331 (GRCm39)	L185Q	probably damaging	Het
Rabep1	A	G	11: 70,831,290 (GRCm39)	N859S	probably benign	Het
Rnf19b	A	G	4: 128,977,571 (GRCm39)	H156R		Het
Sart3	T	C	5: 113,891,703 (GRCm39)	Q423R	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Slc6a21	C	T	7: 44,930,182 (GRCm39)	H194Y	probably damaging	Het
Tcf4	G	A	18: 69,790,866 (GRCm39)	V420I	probably damaging	Het
Tjp1	T	C	7: 64,968,321 (GRCm39)	D701G	probably benign	Het
Trim42	T	C	9: 97,251,761 (GRCm39)	D46G	probably damaging	Het
Usp19	C	T	9: 108,372,123 (GRCm39)	R429*	probably null	Het
Uxs1	T	C	1: 43,804,087 (GRCm39)	N276S	probably damaging	Het
Vps50	A	G	6: 3,588,078 (GRCm39)	I684V	probably benign	Het
Yars2	T	A	16: 16,122,556 (GRCm39)	D307E	probably benign	Het
Zfp934	A	T	13: 62,665,964 (GRCm39)	C258S		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
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'- AGCTTGGGGATCCTTGAATGAG -3'
(R):5'- CATGGTCATACAGGAGAAACACGC -3'

Sequencing Primer
(F):5'- ATGAATAGGATGTGTGTATCCCAG -3'
(R):5'- GGAGAAACACGCATAACTCTTCTCTG -3'

Posted On

2019-06-26