Mutagenetix > Incidental Mutations

Incidental Mutation 'R6383:Srpk1'

515472

Institutional Source

Beutler Lab

Gene Symbol

Srpk1

Ensembl Gene

ENSMUSG00000004865

Gene Name

serine/arginine-rich protein specific kinase 1

Synonyms

SR protein-specific kinase 1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.755) question?

Stock #

R6383 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28587648-28622521 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28590062 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 648 (S648P)

Ref Sequence

ENSEMBL: ENSMUSP00000116259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004987] [ENSMUST00000130643]

Predicted Effect

probably benign
Transcript: ENSMUST00000004987

SMART Domains

Protein: ENSMUSP00000004987
Gene: ENSMUSG00000004865

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	8	158	1.8e-12	PFAM
Pfam:Pkinase	8	160	1.5e-25	PFAM
low complexity region	169	183	N/A	INTRINSIC
low complexity region	195	210	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000130643
AA Change: S648P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116259
Gene: ENSMUSG00000004865
AA Change: S648P

Domain	Start	End	E-Value	Type
low complexity region	10	25	N/A	INTRINSIC
Pfam:Pkinase_Tyr	80	229	6.8e-11	PFAM
Pfam:Pkinase	80	231	5.6e-23	PFAM
low complexity region	241	255	N/A	INTRINSIC
coiled coil region	264	297	N/A	INTRINSIC
Pfam:Pkinase	468	646	3e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136504

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

97% (73/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/arginine protein kinase specific for the SR (serine/arginine-rich domain) family of splicing factors. The protein localizes to the nucleus and the cytoplasm. It is thought to play a role in regulation of both constitutive and alternative splicing by regulating intracellular localization of splicing factors. Alternative splicing of this gene results in multiple transcript variants. Additional alternatively spliced transcript variants have been described for this gene, but their full length nature have not been determined.[provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,247,184	M2497K	probably benign	Het
Abtb2	C	T	2: 103,567,376	T217I	probably damaging	Het
Adam29	T	A	8: 55,871,508	N637I	probably damaging	Het
Adgb	T	A	10: 10,450,028	E59V	probably damaging	Het
Adh7	C	T	3: 138,228,017	R312C	probably benign	Het
Adprh	A	G	16: 38,447,452	I157T	probably damaging	Het
Ap2b1	T	C	11: 83,346,825	S572P	probably damaging	Het
Asic1	T	C	15: 99,698,880	L519P	probably damaging	Het
Atp2a2	G	C	5: 122,501,649	L13V	probably benign	Het
Bst2	A	T	8: 71,537,288	I47N	possibly damaging	Het
Cacng6	G	A	7: 3,424,993		probably null	Het
Cenpe	A	G	3: 135,251,528	E1849G	probably damaging	Het
Cep295	T	A	9: 15,332,754	T213S	probably damaging	Het
Chia1	A	G	3: 106,131,811	T406A	probably benign	Het
Chmp4c	G	T	3: 10,367,217	K62N	probably damaging	Het
Cldn15	A	G	5: 136,968,125	T7A	probably benign	Het
Cmpk2	T	A	12: 26,478,020	M412K	probably benign	Het
Cnnm1	T	C	19: 43,465,266		probably null	Het
Cubn	A	C	2: 13,427,835		probably null	Het
Dopey2	T	C	16: 93,782,248	V1668A	possibly damaging	Het
Erg28	T	A	12: 85,816,429	Y77F	probably damaging	Het
F830045P16Rik	C	T	2: 129,536,438	A9T	probably benign	Het
Gli3	A	G	13: 15,723,555	D740G	probably damaging	Het
Gm13128	A	T	4: 144,333,147	*476L	probably null	Het
Gm14085	T	C	2: 122,524,807	I555T	probably benign	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Gpat3	A	T	5: 100,893,144	M357L	probably benign	Het
Gpr179	A	G	11: 97,337,147	V1394A	possibly damaging	Het
Grn	T	A	11: 102,436,795		probably benign	Het
H2-Q6	G	A	17: 35,428,383		probably null	Het
Igsf3	A	G	3: 101,435,648	T514A	probably benign	Het
Il1r1	A	G	1: 40,313,335	D558G	possibly damaging	Het
Irx4	T	C	13: 73,267,713	M207T	possibly damaging	Het
Kap	T	C	6: 133,851,957	I54V	probably benign	Het
Kdm2b	G	A	5: 122,934,778	R340C	probably damaging	Het
Lipo3	T	A	19: 33,556,431	M334L	probably benign	Het
Lmbrd1	C	T	1: 24,706,034	L152F	probably damaging	Het
Ltbp1	G	A	17: 75,359,457	V1382I	probably damaging	Het
Map3k4	C	T	17: 12,249,583	D1008N	possibly damaging	Het
Mcf2l	T	C	8: 12,879,912		probably benign	Het
Mecom	T	G	3: 29,997,726	D180A	probably damaging	Het
Meis1	T	C	11: 18,941,741	D269G	probably benign	Het
Myh7	A	C	14: 54,988,894	S430A	probably benign	Het
Myo1h	A	G	5: 114,336,264	I439V	probably damaging	Het
Nat1	T	C	8: 67,491,482	V170A	possibly damaging	Het
Nlrp12	A	G	7: 3,234,043	L742P	probably damaging	Het
Nlrp4c	A	G	7: 6,066,053	T318A	probably benign	Het
Olfr1297	T	A	2: 111,621,186	N296I	probably benign	Het
Olfr1425	T	A	19: 12,074,363	I90F	probably damaging	Het
Olfr632	A	G	7: 103,937,823	I148V	probably benign	Het
Olfr952	G	T	9: 39,426,234	T279N	probably damaging	Het
Olfr955	A	T	9: 39,470,630	L32Q	probably damaging	Het
Otop3	A	G	11: 115,345,072	E529G	probably damaging	Het
Parp6	T	C	9: 59,623,939	Y35H	probably damaging	Het
Pcdhb4	A	C	18: 37,308,021	D128A	probably damaging	Het
Phldb2	C	T	16: 45,748,750	D1249N	probably damaging	Het
Ptpn12	T	A	5: 20,987,468	K765*	probably null	Het
Ptprb	T	A	10: 116,347,007	Y1529*	probably null	Het
Ptprc	A	T	1: 138,078,451	Y798N	possibly damaging	Het
Sdk2	G	A	11: 113,832,265	T1300I	probably damaging	Het
Sptbn2	G	A	19: 4,732,496	V487I	possibly damaging	Het
Sptbn5	A	G	2: 120,046,269		probably benign	Het
Stard9	T	C	2: 120,666,407		probably null	Het
Tmem135	A	T	7: 89,144,670	I388N	probably damaging	Het
Top3a	A	T	11: 60,749,459	I446N	probably benign	Het
Trpv1	T	C	11: 73,246,036	S482P	probably damaging	Het
Ugt3a1	C	T	15: 9,306,455	A230V	probably benign	Het
Vmn2r15	A	C	5: 109,293,226	Y255*	probably null	Het
Vmn2r60	A	G	7: 42,116,471	M1V	probably null	Het
Vmn2r87	A	G	10: 130,479,000	V239A	probably damaging	Het
Vwce	T	A	19: 10,659,592	C679*	probably null	Het
Zfp385b	C	T	2: 77,415,841	A281T	probably benign	Het
Zfp398	T	G	6: 47,866,595	L395W	probably damaging	Het
Zfp442	C	T	2: 150,451,401		probably null	Het
Zfp606	A	G	7: 12,492,944	S331G	probably benign	Het
Zfp882	A	G	8: 71,914,640	H437R	probably damaging	Het

Other mutations in Srpk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Srpk1	APN	17	28606317	missense	probably damaging	1.00
IGL01792:Srpk1	APN	17	28599467	splice site	probably benign
IGL03153:Srpk1	APN	17	28592266	missense	possibly damaging	0.57
H8562:Srpk1	UTSW	17	28602733	missense	probably benign	0.32
R0481:Srpk1	UTSW	17	28590244	splice site	probably benign
R1160:Srpk1	UTSW	17	28599774	missense	probably benign	0.05
R2188:Srpk1	UTSW	17	28594189	missense	probably damaging	1.00
R4640:Srpk1	UTSW	17	28608724	missense	probably benign
R4716:Srpk1	UTSW	17	28622008	missense	probably benign	0.16
R4880:Srpk1	UTSW	17	28591225	missense	probably damaging	0.98
R5458:Srpk1	UTSW	17	28599472	splice site	probably null
R5533:Srpk1	UTSW	17	28602759	missense	probably damaging	1.00
R6766:Srpk1	UTSW	17	28602753	missense	possibly damaging	0.85
R7483:Srpk1	UTSW	17	28594218	missense	probably benign	0.11
R8074:Srpk1	UTSW	17	28622016	missense	probably damaging	1.00
R8344:Srpk1	UTSW	17	28620424	missense	unknown
R8416:Srpk1	UTSW	17	28594255	missense	probably damaging	1.00
X0058:Srpk1	UTSW	17	28602835	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACTTTTAGTCTTTGGCAGAGC -3'
(R):5'- GCACATCACCAAGTTGAAGC -3'

Sequencing Primer
(F):5'- TTCACCTAGGATGCCCAATGG -3'
(R):5'- CAAGTTGAAGCCTTGGGGTC -3'

Posted On

2018-05-04