Mutagenetix > Incidental Mutation

Incidental Mutation 'K7894:Clk4'

26526

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: 0.712) question?

Stock #

K7894 () of strain 468

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

51153941-51172597 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 51166593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115894 (fasta)

Gene Model

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

AlphaFold

O35493

Predicted Effect

probably benign
Transcript: ENSMUST00000093132

SMART Domains

Protein: ENSMUSP00000090820
Gene: ENSMUSG00000020385

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

SMART Domains

Protein: ENSMUSP00000104739
Gene: ENSMUSG00000020385

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

SMART Domains

Protein: ENSMUSP00000104741
Gene: ENSMUSG00000020385

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: ENSMUST00000147007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146776

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 95.4%

Validation Efficiency

88% (22/25)

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	CAA	3: 121,941,517 (GRCm39)		probably null	Het
Acsl4	C	T	X: 141,111,056 (GRCm39)	V632I	probably benign	Het
Adcy8	T	C	15: 64,694,083 (GRCm39)	H398R	probably benign	Het
Catsperg1	C	T	7: 28,896,579 (GRCm39)		probably benign	Het
Ccpg1	T	C	9: 72,909,159 (GRCm39)		probably null	Het
Ehbp1	C	T	11: 22,039,683 (GRCm39)		probably benign	Het
Eri2	T	C	7: 119,384,494 (GRCm39)	D669G	probably benign	Het
Nlrp9c	A	G	7: 26,084,323 (GRCm39)	S419P	possibly damaging	Het
Or52h7	A	G	7: 104,213,739 (GRCm39)	T104A	probably benign	Het
Pde8a	C	A	7: 80,956,513 (GRCm39)	P304H	probably damaging	Het
Prmt3	A	G	7: 49,476,459 (GRCm39)	Y356C	probably damaging	Het
Rsph10b	A	G	5: 143,881,338 (GRCm39)	D151G	probably damaging	Het
Spryd3	A	G	15: 102,026,576 (GRCm39)	V365A	probably benign	Het
Vmn1r58	T	C	7: 5,413,702 (GRCm39)	N176S	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
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
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'- TGGAGCACTTGAACAGCACTGACC -3'
(R):5'- AGGCTTGCAAATGAACCCTCCC -3'

Sequencing Primer
(F):5'- CATCAGGCAAATGGCTTATCAG -3'
(R):5'- GGATACACACATCCTATTCATATTCC -3'

Posted On

2013-04-16