Mutagenetix > Incidental Mutation

Incidental Mutation 'R6274:Clk4'

507538

Institutional Source

Beutler Lab

Gene Symbol

Clk4

Ensembl Gene

ENSMUSG00000020385

Gene Name

CDC like kinase 4

Synonyms

MMRRC Submission

044444-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.655) question?

Stock #

R6274 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51261730-51281766 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51271921 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 98 (S98G)

Ref Sequence

ENSEMBL: ENSMUSP00000123133 (fasta)

Gene Model

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

AlphaFold

O35493

Predicted Effect

probably benign
Transcript: ENSMUST00000093132
AA Change: S95G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000090820
Gene: ENSMUSG00000020385
AA Change: S95G

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

possibly damaging
Transcript: ENSMUST00000130641
AA Change: S98G

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123133
Gene: ENSMUSG00000020385
AA Change: S98G

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: ENSMUST00000133200

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136587

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146776

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177296

Meta Mutation Damage Score

0.0591

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

100% (56/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Ano1	A	T	7: 144,618,863	S528T	probably benign	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Bcl2l10	T	C	9: 75,351,072	I172T	possibly damaging	Het
Bpifb3	A	T	2: 153,929,323	N385I	possibly damaging	Het
Bsnd	A	G	4: 106,486,635	V158A	probably damaging	Het
Cacna1s	A	G	1: 136,089,045	N481S	probably benign	Het
Cdk5rap1	A	G	2: 154,368,241	V138A	probably damaging	Het
Cep290	A	G	10: 100,530,207	E1099G	probably damaging	Het
Cers1	T	A	8: 70,331,077	L225Q	probably damaging	Het
Cfb	T	C	17: 34,862,093	Q7R	probably benign	Het
Clock	A	G	5: 76,237,153	S406P	probably benign	Het
Csmd3	T	C	15: 47,621,437	I3178V	probably benign	Het
Dock10	A	G	1: 80,538,823	S1397P	probably damaging	Het
Fer1l4	A	G	2: 156,029,268	L1421P	probably damaging	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Greb1	G	T	12: 16,735,151	T91K	probably damaging	Het
Grid2ip	G	A	5: 143,380,429	S379N	probably damaging	Het
Gucy1b2	A	T	14: 62,415,939	C336S	probably damaging	Het
Hdac1	A	G	4: 129,519,109	C261R	probably damaging	Het
Hrasls5	C	T	19: 7,637,466	T231I	probably damaging	Het
Htt	T	C	5: 34,852,087	S1471P	possibly damaging	Het
Ice1	A	G	13: 70,594,839	V2134A	probably damaging	Het
Ikzf1	C	T	11: 11,768,961	Q310*	probably null	Het
Il3ra	G	A	14: 14,350,180	V112I	probably benign	Het
Kif21b	A	G	1: 136,149,418	I393V	possibly damaging	Het
Krt74	T	C	15: 101,763,437		noncoding transcript	Het
Krtap29-1	T	C	11: 99,978,983	N24S	probably null	Het
Mut	T	C	17: 40,956,245	V570A	probably benign	Het
Myh7	T	C	14: 54,979,486	D1138G	probably damaging	Het
Nktr	T	C	9: 121,731,565	I125T	probably damaging	Het
Nlrp2	A	T	7: 5,317,555	L861Q	probably damaging	Het
Notch3	C	A	17: 32,147,290	R990L	probably benign	Het
Nrap	T	C	19: 56,361,721	D655G	probably benign	Het
Olfr1329	A	T	4: 118,917,230	V79E	probably benign	Het
Olfr1451	G	A	19: 12,999,870	V295I	probably damaging	Het
Osbpl11	T	A	16: 33,227,056	I463N	probably damaging	Het
Pcsk6	A	T	7: 66,033,844	R749W	probably damaging	Het
Plxnb1	T	C	9: 109,112,141		probably null	Het
Polr1a	T	A	6: 71,954,890		probably null	Het
Ppm1g	T	C	5: 31,206,406	I153V	probably damaging	Het
Ppp1r12a	T	C	10: 108,260,890	S191P	probably benign	Het
Prodh	T	C	16: 18,081,058	K178E	possibly damaging	Het
Rilpl2	A	G	5: 124,469,848	V103A	possibly damaging	Het
Sap18b	C	T	8: 95,825,541	H60Y	probably benign	Het
Sclt1	A	G	3: 41,629,516		probably null	Het
Serpinb1a	G	T	13: 32,842,866	H364Q	probably damaging	Het
Sez6l	G	A	5: 112,475,365	Q107*	probably null	Het
Sipa1l2	C	T	8: 125,469,872	V708I	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Uaca	T	A	9: 60,850,291		probably null	Het
Uqcrc1	C	A	9: 108,942,156	H95N	probably damaging	Het
Usp9y	C	T	Y: 1,316,735	R1938H	probably damaging	Homo
Wnk4	C	T	11: 101,265,431	R42W	probably damaging	Het
Zfp326	T	A	5: 105,905,980	L242Q	probably damaging	Het

Other mutations in Clk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01368:Clk4	APN	11	51281172	nonsense	probably null
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
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
R8515:Clk4	UTSW	11	51275261	missense	probably damaging	0.97
R8516:Clk4	UTSW	11	51275261	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CTGGCTGTAGCAATTTAATATGGAC -3'
(R):5'- ACACAGGTGGTCAATTATGAGAATG -3'

Sequencing Primer
(F):5'- GTTTGAACCACATTATTCCAGAATG -3'
(R):5'- TCCTTTAAGGACTCCAGTAACATG -3'

Posted On

2018-03-15