Mutagenetix > Incidental Mutation

Incidental Mutation 'R0723:Clk4'

218682

Institutional Source

Beutler Lab

Gene Symbol

Clk4

Ensembl Gene

ENSMUSG00000020385

Gene Name

CDC like kinase 4

Synonyms

MMRRC Submission

038905-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.738) question?

Stock #

R0723 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

51153941-51172597 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 51166320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 67 (Y67*)

Ref Sequence

ENSEMBL: ENSMUSP00000104741 (fasta)

Gene Model

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

AlphaFold

O35493

Predicted Effect

probably null
Transcript: ENSMUST00000093132
AA Change: Y247*

SMART Domains

Protein: ENSMUSP00000090820
Gene: ENSMUSG00000020385
AA Change: Y247*

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 null
Transcript: ENSMUST00000109111
AA Change: Y67*

SMART Domains

Protein: ENSMUSP00000104739
Gene: ENSMUSG00000020385
AA Change: Y67*

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 null
Transcript: ENSMUST00000109113
AA Change: Y67*

SMART Domains

Protein: ENSMUSP00000104741
Gene: ENSMUSG00000020385
AA Change: Y67*

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: ENSMUST00000136587

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146776

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147007

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

probably benign
Transcript: ENSMUST00000148053

SMART Domains

Protein: ENSMUSP00000120822
Gene: ENSMUSG00000020385

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.0%

Validation Efficiency

99% (69/70)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Acbd5	T	G	2: 22,959,608 (GRCm39)	V54G	probably damaging	Het
Acin1	A	T	14: 54,902,908 (GRCm39)	S255T	probably damaging	Het
Adcy2	A	G	13: 69,147,248 (GRCm39)	L56P	probably damaging	Het
Akap6	G	T	12: 53,188,685 (GRCm39)	C2033F	probably damaging	Het
Ano5	A	G	7: 51,237,506 (GRCm39)	I777V	probably benign	Het
Arhgef28	A	G	13: 98,075,987 (GRCm39)	V1349A	probably benign	Het
Atosa	G	A	9: 74,916,733 (GRCm39)	G444E	probably damaging	Het
Bank1	T	C	3: 135,760,164 (GRCm39)		probably null	Het
C2cd5	T	C	6: 142,987,281 (GRCm39)		probably benign	Het
Cadps2	A	G	6: 23,287,697 (GRCm39)	V1161A	probably damaging	Het
Car8	A	T	4: 8,169,703 (GRCm39)	D268E	probably benign	Het
Ciao3	G	A	17: 26,000,795 (GRCm39)	V406M	probably damaging	Het
Ckap5	T	A	2: 91,385,676 (GRCm39)	S175T	probably damaging	Het
Copg2	T	C	6: 30,792,917 (GRCm39)	I473V	possibly damaging	Het
Cstdc1	T	C	2: 148,625,282 (GRCm39)	I72T	probably damaging	Het
Cyp2s1	C	T	7: 25,508,973 (GRCm39)	V43I	probably benign	Het
Ddx54	A	G	5: 120,761,703 (GRCm39)	D493G	probably benign	Het
Efemp2	T	C	19: 5,530,078 (GRCm39)	S140P	probably damaging	Het
Fat1	C	A	8: 45,479,786 (GRCm39)	T2944K	probably damaging	Het
Fgfr1	T	A	8: 26,047,784 (GRCm39)	D43E	probably damaging	Het
Fry	G	A	5: 150,419,825 (GRCm39)	A996T	probably damaging	Het
Fyb2	G	A	4: 104,873,063 (GRCm39)	V784I	probably benign	Het
Gm6507	T	A	6: 89,162,144 (GRCm39)		noncoding transcript	Het
Gm7964	T	C	7: 83,405,374 (GRCm39)		noncoding transcript	Het
Gucy2c	T	C	6: 136,704,799 (GRCm39)		probably null	Het
Hdac10	A	T	15: 89,010,621 (GRCm39)	L259Q	probably damaging	Het
Hoxd9	A	T	2: 74,529,172 (GRCm39)	D258V	probably damaging	Het
Hs3st3b1	T	C	11: 63,812,401 (GRCm39)	T105A	probably benign	Het
Hsd17b7	A	G	1: 169,783,595 (GRCm39)	L271P	probably damaging	Het
Ifnlr1	T	A	4: 135,428,524 (GRCm39)		probably benign	Het
Kif22	A	T	7: 126,633,078 (GRCm39)	M121K	probably damaging	Het
Kl	G	A	5: 150,876,566 (GRCm39)	D129N	probably damaging	Het
Mettl13	A	T	1: 162,361,999 (GRCm39)	I648N	probably damaging	Het
Mlh1	C	T	9: 111,100,540 (GRCm39)	R18H	probably damaging	Het
Mtmr14	T	C	6: 113,247,473 (GRCm39)		probably benign	Het
Myo15a	C	A	11: 60,369,803 (GRCm39)	N854K	possibly damaging	Het
Myo1h	T	C	5: 114,457,741 (GRCm39)	I84T	probably benign	Het
Myo9a	A	T	9: 59,778,383 (GRCm39)	S1380C	probably benign	Het
Myof	A	G	19: 37,969,708 (GRCm39)	V318A	probably damaging	Het
N4bp2l2	A	G	5: 150,585,897 (GRCm39)	S28P	probably damaging	Het
Nbr1	C	T	11: 101,467,145 (GRCm39)	Q570*	probably null	Het
Nhp2	C	T	11: 51,510,750 (GRCm39)	Q36*	probably null	Het
Or1e17	T	G	11: 73,831,096 (GRCm39)	V8G	probably benign	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Poc1b	T	A	10: 98,965,457 (GRCm39)	W129R	probably damaging	Het
Potegl	T	C	2: 23,146,936 (GRCm39)		probably benign	Het
Rapgef2	C	T	3: 78,986,481 (GRCm39)	E1018K	probably benign	Het
Rgs12	T	C	5: 35,181,710 (GRCm39)		probably benign	Het
Rufy2	G	A	10: 62,833,873 (GRCm39)	V280I	probably benign	Het
Snx2	A	G	18: 53,343,444 (GRCm39)	I281V	probably benign	Het
Spag5	C	A	11: 78,210,410 (GRCm39)		probably benign	Het
Spata31g1	T	A	4: 42,971,691 (GRCm39)	N341K	probably damaging	Het
Stxbp5	A	T	10: 9,644,617 (GRCm39)	I961N	probably damaging	Het
Tet2	T	C	3: 133,173,045 (GRCm39)	E1739G	probably benign	Het
Tmod2	A	G	9: 75,502,337 (GRCm39)	F50S	possibly damaging	Het
Tnfsf13b	T	G	8: 10,057,166 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,616,679 (GRCm39)	K16525E	possibly damaging	Het
Txnrd2	T	C	16: 18,259,629 (GRCm39)		probably benign	Het
Ubr1	A	T	2: 120,711,582 (GRCm39)	Y1437*	probably null	Het
Vwf	C	A	6: 125,543,225 (GRCm39)	D170E	probably benign	Het
Wdr95	C	G	5: 149,497,513 (GRCm39)	I230M	probably damaging	Het
Xirp2	C	T	2: 67,342,559 (GRCm39)	S1600F	probably damaging	Het
Zfp12	A	G	5: 143,230,638 (GRCm39)	K322E	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
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
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'- AGGCAGCTCGTTCTGAAATCCAAG -3'
(R):5'- AGCTTTACCTGTAACCTGCAAGTGG -3'

Sequencing Primer
(F):5'- TATTGGAGCACTTGAACAGCAC -3'
(R):5'- TAACCTGCAAGTGGGCATGG -3'

Posted On

2014-08-19