Mutagenetix > Incidental Mutation

Incidental Mutation 'R1714:Clk4'

190874

Institutional Source

Beutler Lab

Gene Symbol

Clk4

Ensembl Gene

ENSMUSG00000020385

Gene Name

CDC like kinase 4

Synonyms

MMRRC Submission

039747-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.738) question?

Stock #

R1714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51153941-51172597 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 51171245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 219 (H219Y)

Ref Sequence

ENSEMBL: ENSMUSP00000104741 (fasta)

Gene Model

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

AlphaFold

O35493

Predicted Effect

probably damaging
Transcript: ENSMUST00000093132
AA Change: H399Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090820
Gene: ENSMUSG00000020385
AA Change: H399Y

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: H219Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104739
Gene: ENSMUSG00000020385
AA Change: H219Y

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: H219Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104741
Gene: ENSMUSG00000020385
AA Change: H219Y

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

noncoding transcript
Transcript: ENSMUST00000140628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,464,479 (GRCm39)	T892I	possibly damaging	Het
Abcb11	A	C	2: 69,136,925 (GRCm39)	F179V	probably damaging	Het
Adgrg6	G	T	10: 14,315,514 (GRCm39)	Q597K	possibly damaging	Het
Ankmy1	G	T	1: 92,812,916 (GRCm39)	Y464*	probably null	Het
Apba1	G	A	19: 23,922,316 (GRCm39)	E795K	possibly damaging	Het
Aqp12	T	A	1: 92,934,681 (GRCm39)	V186D	possibly damaging	Het
Brd8	A	T	18: 34,742,886 (GRCm39)	S253R	probably damaging	Het
Cdc42se2	A	T	11: 54,631,112 (GRCm39)	S2R	possibly damaging	Het
Chd9	A	C	8: 91,760,853 (GRCm39)		probably benign	Het
Cngb1	A	G	8: 95,984,559 (GRCm39)	Y417H	probably damaging	Het
Cr2	A	T	1: 194,833,994 (GRCm39)	F932I	possibly damaging	Het
Cxxc1	C	A	18: 74,352,934 (GRCm39)	R415S	probably damaging	Het
Dclk2	G	A	3: 86,813,400 (GRCm39)	A182V	probably benign	Het
Ddx11	T	G	17: 66,455,754 (GRCm39)	W718G	probably damaging	Het
Dmd	A	C	X: 83,008,356 (GRCm39)	T2069P	probably benign	Het
Dnai1	T	C	4: 41,632,164 (GRCm39)	F533L	probably benign	Het
Dnajc5b	A	T	3: 19,633,265 (GRCm39)	R163*	probably null	Het
Dynll2	T	A	11: 87,874,838 (GRCm39)		probably null	Het
Ercc5	A	G	1: 44,206,499 (GRCm39)	T471A	probably benign	Het
Fan1	T	C	7: 64,016,435 (GRCm39)	D563G	probably benign	Het
Fbxo34	A	G	14: 47,766,658 (GRCm39)	Y6C	probably damaging	Het
Fcrl5	T	A	3: 87,353,713 (GRCm39)	S353T	probably damaging	Het
Gabrb3	A	T	7: 57,415,176 (GRCm39)	Y82F	probably damaging	Het
Gm20939	C	A	17: 95,183,234 (GRCm39)	P157T	probably damaging	Het
H2bc1	T	C	13: 24,117,935 (GRCm39)	T69A	probably benign	Het
Haus3	A	T	5: 34,321,041 (GRCm39)	H468Q	probably benign	Het
Il20ra	T	C	10: 19,631,576 (GRCm39)	V259A	probably damaging	Het
Isg15	A	T	4: 156,284,414 (GRCm39)	V38E	probably damaging	Het
Kcnq3	A	G	15: 65,871,912 (GRCm39)	S586P	probably benign	Het
Kl	A	T	5: 150,876,798 (GRCm39)	Y206F	probably benign	Het
Klk1b24	C	A	7: 43,840,939 (GRCm39)	D122E	probably damaging	Het
Kmt2d	A	C	15: 98,760,831 (GRCm39)	S840A	unknown	Het
Krt34	A	G	11: 99,930,953 (GRCm39)	S150P	possibly damaging	Het
Lamc3	A	G	2: 31,830,769 (GRCm39)	K1502R	probably benign	Het
Letm1	G	T	5: 33,918,228 (GRCm39)	R306S	possibly damaging	Het
Lnx1	C	T	5: 74,768,398 (GRCm39)	G397S	probably null	Het
Lrrc8c	A	G	5: 105,755,157 (GRCm39)	T311A	possibly damaging	Het
Mpeg1	A	T	19: 12,440,198 (GRCm39)	D552V	probably damaging	Het
Myh11	C	T	16: 14,054,232 (GRCm39)		probably null	Het
Ndufa9	T	C	6: 126,799,154 (GRCm39)		probably null	Het
Or4e5	A	C	14: 52,727,871 (GRCm39)		probably null	Het
Or4f4b	A	T	2: 111,314,008 (GRCm39)	I78F	probably damaging	Het
Or8s8	G	A	15: 98,354,614 (GRCm39)	C141Y	probably damaging	Het
Polr3d	A	C	14: 70,678,755 (GRCm39)	M117R	possibly damaging	Het
Ppp5c	T	C	7: 16,742,628 (GRCm39)	I237V	probably benign	Het
Prrc2c	G	A	1: 162,504,945 (GRCm39)	T2632M	probably damaging	Het
Ptprg	C	A	14: 12,213,697 (GRCm38)	Q1022K	probably damaging	Het
Pus10	T	A	11: 23,675,542 (GRCm39)	H471Q	probably damaging	Het
Ralgapa1	A	G	12: 55,689,174 (GRCm39)	V1928A	probably damaging	Het
Rbpms2	CACT	CACTACT	9: 65,558,947 (GRCm39)		probably benign	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rfpl4	T	G	7: 5,113,357 (GRCm39)	T269P	probably benign	Het
Rgs10	A	G	7: 128,004,946 (GRCm39)	V72A	probably damaging	Het
Rsph1	T	C	17: 31,474,190 (GRCm39)	N289S	probably benign	Het
Sbk2	T	C	7: 4,966,121 (GRCm39)	D21G	probably benign	Het
Shbg	A	T	11: 69,507,983 (GRCm39)	D127E	possibly damaging	Het
Spag16	A	G	1: 69,882,164 (GRCm39)	E52G	probably damaging	Het
Ssh2	G	A	11: 77,344,850 (GRCm39)	G945D	possibly damaging	Het
Sstr3	A	T	15: 78,424,473 (GRCm39)	D91E	probably damaging	Het
Syne2	C	A	12: 76,101,713 (GRCm39)	A669E	probably benign	Het
Traf3	A	G	12: 111,208,907 (GRCm39)	I109V	probably benign	Het
Ube2j1	A	G	4: 33,049,886 (GRCm39)	T295A	probably damaging	Het
Usp46	A	G	5: 74,163,828 (GRCm39)	V276A	probably benign	Het
Vmn1r200	T	C	13: 22,579,640 (GRCm39)	S139P	possibly damaging	Het
Ydjc	G	A	16: 16,965,663 (GRCm39)	V143M	probably damaging	Het
Zfp169	T	C	13: 48,652,330 (GRCm39)	E29G	probably benign	Het
Zfp292	A	G	4: 34,808,935 (GRCm39)	S1370P	probably damaging	Het
Zfp763	C	T	17: 33,238,591 (GRCm39)	D185N	probably damaging	Het
Zfp827	A	T	8: 79,787,202 (GRCm39)	N123Y	probably damaging	Het
Zfp979	A	T	4: 147,698,442 (GRCm39)	I89N	probably damaging	Het
Zfr2	T	C	10: 81,080,583 (GRCm39)	L419P	probably damaging	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
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
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'- AGTGTTTGCACCAGACAAAACAGC -3'
(R):5'- ACAGTACTCCGTTCAAGGGCACAG -3'

Sequencing Primer
(F):5'- ccttttacccattgagccatc -3'
(R):5'- CAGACTCTAGTAAGAATGGGCTCTC -3'

Posted On

2014-05-14