Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01368:Clk4'

76019

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Clk4

Ensembl Gene

ENSMUSG00000020385

Gene Name

CDC like kinase 4

Synonyms

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.654) question?

Stock #

IGL01368

Quality Score

Status

Chromosome

Chromosomal Location

51261730-51281766 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 51281172 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 246 (Y246*)

Ref Sequence

ENSEMBL: ENSMUSP00000104741 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000093132
AA Change: Y426*

SMART Domains

Protein: ENSMUSP00000090820
Gene: ENSMUSG00000020385
AA Change: Y426*

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: Y246*

SMART Domains

Protein: ENSMUSP00000104739
Gene: ENSMUSG00000020385
AA Change: Y246*

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: Y246*

SMART Domains

Protein: ENSMUSP00000104741
Gene: ENSMUSG00000020385
AA Change: Y246*

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: ENSMUST00000148467

Coding Region Coverage

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	A	14: 103,051,334	D93E	probably damaging	Het
Adam22	T	C	5: 8,127,411	Y566C	probably damaging	Het
Atp8b3	G	A	10: 80,534,229		probably benign	Het
Babam1	T	A	8: 71,398,406	D104E	probably damaging	Het
Bcl2a1a	T	A	9: 88,957,447	W133R	probably damaging	Het
Ckm	C	T	7: 19,416,787	Q184*	probably null	Het
Cyp3a57	T	C	5: 145,369,068	S121P	probably damaging	Het
Gm5039	C	T	12: 88,321,088	D132N	unknown	Het
Gm5771	A	G	6: 41,396,686	D161G	possibly damaging	Het
Gm8011	T	C	14: 42,465,874		probably benign	Het
Gpr153	T	C	4: 152,282,994	F434S	probably benign	Het
Gpr158	G	T	2: 21,827,098	W1003L	probably damaging	Het
Ighv5-9-1	T	C	12: 113,736,390	E34G	probably damaging	Het
Igkv16-104	G	T	6: 68,425,610	R2S	possibly damaging	Het
Map3k3	T	C	11: 106,150,389	F395L	probably benign	Het
Myof	T	A	19: 37,936,457	T1161S	probably damaging	Het
Nlrp9a	T	C	7: 26,557,874	S217P	probably damaging	Het
Nol9	T	A	4: 152,058,391	N687K	probably benign	Het
Olfr287	T	C	15: 98,207,500	I295V	probably damaging	Het
Olfr697	T	C	7: 106,741,622	E104G	probably benign	Het
Olfr748	T	C	14: 50,710,993	V221A	possibly damaging	Het
Olfr952	A	T	9: 39,426,180	V297D	probably damaging	Het
Rrh	T	C	3: 129,808,969	D229G	probably benign	Het
Sclt1	T	C	3: 41,711,175	T153A	probably damaging	Het
Slc41a1	G	A	1: 131,839,124	V127I	probably damaging	Het
Smarca2	C	T	19: 26,774,294	S214L	possibly damaging	Het
Tmem63a	T	C	1: 180,970,232	V616A	possibly damaging	Het
Ubr1	A	G	2: 120,941,131		probably benign	Het
Vmn1r228	A	G	17: 20,776,512	L248P	probably benign	Het
Zdhhc16	T	A	19: 41,941,506		probably null	Het

Other mutations in Clk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
B6819:Clk4	UTSW	11	51275766	unclassified	probably benign
K7894:Clk4	UTSW	11	51275766	unclassified	probably benign
R0001:Clk4	UTSW	11	51268765	splice site	probably benign
R0466:Clk4	UTSW	11	51267328	missense	possibly damaging	0.59
R0692:Clk4	UTSW	11	51281328	nonsense	probably null
R0719:Clk4	UTSW	11	51275493	nonsense	probably null
R0723:Clk4	UTSW	11	51275493	nonsense	probably null
R1277:Clk4	UTSW	11	51267189	missense	probably benign
R1714:Clk4	UTSW	11	51280418	missense	probably damaging	1.00
R4804:Clk4	UTSW	11	51281323	missense	probably damaging	1.00
R5141:Clk4	UTSW	11	51275771	missense	possibly damaging	0.79
R5399:Clk4	UTSW	11	51275257	missense	probably damaging	1.00
R6182:Clk4	UTSW	11	51268182	missense	possibly damaging	0.66
R6274:Clk4	UTSW	11	51271921	missense	possibly damaging	0.69
R6480:Clk4	UTSW	11	51270546	nonsense	probably null
R6759:Clk4	UTSW	11	51275574	missense	possibly damaging	0.95
R6843:Clk4	UTSW	11	51276249	critical splice donor site	probably null
R7138:Clk4	UTSW	11	51277932	missense	probably damaging	1.00
R7186:Clk4	UTSW	11	51268780	missense	probably benign	0.00
R7235:Clk4	UTSW	11	51276185	missense	probably damaging	0.98
R7687:Clk4	UTSW	11	51281398	missense	probably benign	0.02
R7842:Clk4	UTSW	11	51281129	missense	probably benign	0.00
R8073:Clk4	UTSW	11	51277889	missense	probably benign	0.29

Posted On

2013-10-07