Mutagenetix > Incidental Mutation

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

044532-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.745) question?

Stock #

R6383 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28806622-28841683 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28809036 bp (GRCm39)

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]

AlphaFold

O70551

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

Meta Mutation Damage Score

0.0955

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: 71,286,343 (GRCm39)	M2497K	probably benign	Het
Abtb2	C	T	2: 103,397,721 (GRCm39)	T217I	probably damaging	Het
Adam29	T	A	8: 56,324,543 (GRCm39)	N637I	probably damaging	Het
Adgb	T	A	10: 10,325,772 (GRCm39)	E59V	probably damaging	Het
Adh7	C	T	3: 137,933,778 (GRCm39)	R312C	probably benign	Het
Adprh	A	G	16: 38,267,814 (GRCm39)	I157T	probably damaging	Het
Ap2b1	T	C	11: 83,237,651 (GRCm39)	S572P	probably damaging	Het
Asic1	T	C	15: 99,596,761 (GRCm39)	L519P	probably damaging	Het
Atp2a2	G	C	5: 122,639,712 (GRCm39)	L13V	probably benign	Het
Bst2	A	T	8: 71,989,932 (GRCm39)	I47N	possibly damaging	Het
Cacng6	G	A	7: 3,473,509 (GRCm39)		probably null	Het
Cenpe	A	G	3: 134,957,289 (GRCm39)	E1849G	probably damaging	Het
Cep295	T	A	9: 15,244,050 (GRCm39)	T213S	probably damaging	Het
Chia1	A	G	3: 106,039,127 (GRCm39)	T406A	probably benign	Het
Chmp4c	G	T	3: 10,432,277 (GRCm39)	K62N	probably damaging	Het
Cldn15	A	G	5: 136,996,979 (GRCm39)	T7A	probably benign	Het
Cmpk2	T	A	12: 26,528,019 (GRCm39)	M412K	probably benign	Het
Cnnm1	T	C	19: 43,453,705 (GRCm39)		probably null	Het
Cubn	A	C	2: 13,432,646 (GRCm39)		probably null	Het
Dop1b	T	C	16: 93,579,136 (GRCm39)	V1668A	possibly damaging	Het
Erg28	T	A	12: 85,863,203 (GRCm39)	Y77F	probably damaging	Het
F830045P16Rik	C	T	2: 129,378,358 (GRCm39)	A9T	probably benign	Het
Gli3	A	G	13: 15,898,140 (GRCm39)	D740G	probably damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gpat3	A	T	5: 101,041,010 (GRCm39)	M357L	probably benign	Het
Gpr179	A	G	11: 97,227,973 (GRCm39)	V1394A	possibly damaging	Het
Grn	T	A	11: 102,327,621 (GRCm39)		probably benign	Het
H2-Q6	G	A	17: 35,647,359 (GRCm39)		probably null	Het
Igsf3	A	G	3: 101,342,964 (GRCm39)	T514A	probably benign	Het
Il1r1	A	G	1: 40,352,495 (GRCm39)	D558G	possibly damaging	Het
Irx4	T	C	13: 73,415,832 (GRCm39)	M207T	possibly damaging	Het
Kap	T	C	6: 133,828,920 (GRCm39)	I54V	probably benign	Het
Kdm2b	G	A	5: 123,072,841 (GRCm39)	R340C	probably damaging	Het
Lipo3	T	A	19: 33,533,831 (GRCm39)	M334L	probably benign	Het
Lmbrd1	C	T	1: 24,745,115 (GRCm39)	L152F	probably damaging	Het
Ltbp1	G	A	17: 75,666,452 (GRCm39)	V1382I	probably damaging	Het
Map3k4	C	T	17: 12,468,470 (GRCm39)	D1008N	possibly damaging	Het
Mcf2l	T	C	8: 12,929,912 (GRCm39)		probably benign	Het
Mecom	T	G	3: 30,051,875 (GRCm39)	D180A	probably damaging	Het
Meis1	T	C	11: 18,891,741 (GRCm39)	D269G	probably benign	Het
Myh7	A	C	14: 55,226,351 (GRCm39)	S430A	probably benign	Het
Myo1h	A	G	5: 114,474,325 (GRCm39)	I439V	probably damaging	Het
Nat1	T	C	8: 67,944,134 (GRCm39)	V170A	possibly damaging	Het
Nlrp12	A	G	7: 3,282,673 (GRCm39)	L742P	probably damaging	Het
Nlrp4c	A	G	7: 6,069,052 (GRCm39)	T318A	probably benign	Het
Or4d10	T	A	19: 12,051,727 (GRCm39)	I90F	probably damaging	Het
Or4k47	T	A	2: 111,451,531 (GRCm39)	N296I	probably benign	Het
Or51ai2	A	G	7: 103,587,030 (GRCm39)	I148V	probably benign	Het
Or8g33	G	T	9: 39,337,530 (GRCm39)	T279N	probably damaging	Het
Or8g35	A	T	9: 39,381,926 (GRCm39)	L32Q	probably damaging	Het
Otop3	A	G	11: 115,235,898 (GRCm39)	E529G	probably damaging	Het
Parp6	T	C	9: 59,531,222 (GRCm39)	Y35H	probably damaging	Het
Pcdhb4	A	C	18: 37,441,074 (GRCm39)	D128A	probably damaging	Het
Phldb2	C	T	16: 45,569,113 (GRCm39)	D1249N	probably damaging	Het
Pramel30	A	T	4: 144,059,717 (GRCm39)	*476L	probably null	Het
Ptpn12	T	A	5: 21,192,466 (GRCm39)	K765*	probably null	Het
Ptprb	T	A	10: 116,182,912 (GRCm39)	Y1529*	probably null	Het
Ptprc	A	T	1: 138,006,189 (GRCm39)	Y798N	possibly damaging	Het
Sdk2	G	A	11: 113,723,091 (GRCm39)	T1300I	probably damaging	Het
Slc28a2b	T	C	2: 122,355,288 (GRCm39)	I555T	probably benign	Het
Sptbn2	G	A	19: 4,782,524 (GRCm39)	V487I	possibly damaging	Het
Sptbn5	A	G	2: 119,876,750 (GRCm39)		probably benign	Het
Stard9	T	C	2: 120,496,888 (GRCm39)		probably null	Het
Tmem135	A	T	7: 88,793,878 (GRCm39)	I388N	probably damaging	Het
Top3a	A	T	11: 60,640,285 (GRCm39)	I446N	probably benign	Het
Trpv1	T	C	11: 73,136,862 (GRCm39)	S482P	probably damaging	Het
Ugt3a1	C	T	15: 9,306,541 (GRCm39)	A230V	probably benign	Het
Vmn2r15	A	C	5: 109,441,092 (GRCm39)	Y255*	probably null	Het
Vmn2r60	A	G	7: 41,765,895 (GRCm39)	M1V	probably null	Het
Vmn2r87	A	G	10: 130,314,869 (GRCm39)	V239A	probably damaging	Het
Vwce	T	A	19: 10,636,956 (GRCm39)	C679*	probably null	Het
Zfp385b	C	T	2: 77,246,185 (GRCm39)	A281T	probably benign	Het
Zfp398	T	G	6: 47,843,529 (GRCm39)	L395W	probably damaging	Het
Zfp442	C	T	2: 150,293,321 (GRCm39)		probably null	Het
Zfp606	A	G	7: 12,226,871 (GRCm39)	S331G	probably benign	Het
Zfp882	A	G	8: 72,668,484 (GRCm39)	H437R	probably damaging	Het

Other mutations in Srpk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Srpk1	APN	17	28,825,291 (GRCm39)	missense	probably damaging	1.00
IGL01792:Srpk1	APN	17	28,818,441 (GRCm39)	splice site	probably benign
IGL03153:Srpk1	APN	17	28,811,240 (GRCm39)	missense	possibly damaging	0.57
H8562:Srpk1	UTSW	17	28,821,707 (GRCm39)	missense	probably benign	0.32
R0481:Srpk1	UTSW	17	28,809,218 (GRCm39)	splice site	probably benign
R1160:Srpk1	UTSW	17	28,818,748 (GRCm39)	missense	probably benign	0.05
R2188:Srpk1	UTSW	17	28,813,163 (GRCm39)	missense	probably damaging	1.00
R4640:Srpk1	UTSW	17	28,827,698 (GRCm39)	missense	probably benign
R4716:Srpk1	UTSW	17	28,840,982 (GRCm39)	missense	probably benign	0.16
R4880:Srpk1	UTSW	17	28,810,199 (GRCm39)	missense	probably damaging	0.98
R5458:Srpk1	UTSW	17	28,818,446 (GRCm39)	splice site	probably null
R5533:Srpk1	UTSW	17	28,821,733 (GRCm39)	missense	probably damaging	1.00
R6766:Srpk1	UTSW	17	28,821,727 (GRCm39)	missense	possibly damaging	0.85
R7483:Srpk1	UTSW	17	28,813,192 (GRCm39)	missense	probably benign	0.11
R8074:Srpk1	UTSW	17	28,840,990 (GRCm39)	missense	probably damaging	1.00
R8344:Srpk1	UTSW	17	28,839,398 (GRCm39)	missense	unknown
R8416:Srpk1	UTSW	17	28,813,229 (GRCm39)	missense	probably damaging	1.00
R8970:Srpk1	UTSW	17	28,818,493 (GRCm39)	missense	probably benign
R9630:Srpk1	UTSW	17	28,819,404 (GRCm39)	missense	probably benign	0.00
R9731:Srpk1	UTSW	17	28,825,297 (GRCm39)	missense	probably damaging	1.00
R9741:Srpk1	UTSW	17	28,818,652 (GRCm39)	missense	probably benign
X0058:Srpk1	UTSW	17	28,821,809 (GRCm39)	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