Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01583:Srpk1'

91408

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Srpk1

Ensembl Gene

ENSMUSG00000004865

Gene Name

serine/arginine-rich protein specific kinase 1

Synonyms

SR protein-specific kinase 1

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.745) question?

Stock #

IGL01583

Quality Score

Status

Chromosome

Chromosomal Location

28806622-28841683 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28825291 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 127 (L127P)

Ref Sequence

ENSEMBL: ENSMUSP00000116259 (fasta)

Gene Model

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

AlphaFold

O70551

Predicted Effect

probably damaging
Transcript: ENSMUST00000004987
AA Change: L55P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000004987
Gene: ENSMUSG00000004865
AA Change: L55P

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: L127P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116259
Gene: ENSMUSG00000004865
AA Change: L127P

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: ENSMUST00000145023

Coding Region Coverage

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,126,753 (GRCm39)	M329K	possibly damaging	Het
Abce1	G	A	8: 80,420,076 (GRCm39)	T300M	probably damaging	Het
Acap1	G	A	11: 69,772,503 (GRCm39)	S536L	probably damaging	Het
Adcy5	C	A	16: 35,103,883 (GRCm39)		probably benign	Het
Ap2b1	G	T	11: 83,215,437 (GRCm39)	R127L	possibly damaging	Het
Asxl3	T	G	18: 22,649,654 (GRCm39)	S548A	probably benign	Het
Atm	G	A	9: 53,395,547 (GRCm39)		probably benign	Het
Cep250	T	C	2: 155,818,069 (GRCm39)	V807A	probably damaging	Het
Ces1g	T	A	8: 94,033,587 (GRCm39)	Y445F	probably damaging	Het
Cnksr3	A	G	10: 7,070,512 (GRCm39)	Y241H	probably benign	Het
Col9a1	T	C	1: 24,224,225 (GRCm39)	S136P	unknown	Het
Cux2	C	A	5: 122,012,170 (GRCm39)	G422W	probably damaging	Het
Cyp1a2	A	T	9: 57,589,655 (GRCm39)	M53K	probably benign	Het
Ddx20	T	C	3: 105,593,986 (GRCm39)	D123G	probably damaging	Het
Dock4	T	A	12: 40,860,466 (GRCm39)	L1284*	probably null	Het
Dpp9	A	C	17: 56,518,666 (GRCm39)	L46R	probably benign	Het
Elavl1	A	T	8: 4,351,699 (GRCm39)	V139E	probably damaging	Het
Fndc3b	T	C	3: 27,483,144 (GRCm39)	Y1018C	probably damaging	Het
Fubp1	A	G	3: 151,921,261 (GRCm39)	N78D	possibly damaging	Het
Fubp3	C	T	2: 31,501,755 (GRCm39)		probably benign	Het
Gbx2	C	A	1: 89,856,559 (GRCm39)	R277L	probably damaging	Het
Gm128	T	C	3: 95,148,094 (GRCm39)	R67G	possibly damaging	Het
Gpc2	T	A	5: 138,273,792 (GRCm39)	R469W	probably damaging	Het
Ifi30	G	A	8: 71,217,407 (GRCm39)		probably benign	Het
Kbtbd4	T	C	2: 90,736,252 (GRCm39)	S88P	probably damaging	Het
Kif23	A	T	9: 61,842,750 (GRCm39)	Y216N	probably damaging	Het
Lgals4	A	G	7: 28,540,973 (GRCm39)	D299G	probably damaging	Het
Lmx1b	A	G	2: 33,459,071 (GRCm39)	S161P	probably benign	Het
Lrcol1	T	A	5: 110,502,444 (GRCm39)	S107T	probably benign	Het
Lrrc28	A	T	7: 67,195,223 (GRCm39)		probably null	Het
Ncoa4	T	C	14: 31,894,884 (GRCm39)	V42A	probably benign	Het
Nkd2	C	T	13: 73,969,599 (GRCm39)	S277N	probably benign	Het
Nlrp2	A	T	7: 5,340,769 (GRCm39)	L15Q	probably damaging	Het
Nynrin	T	G	14: 56,107,968 (GRCm39)	L1025R	probably damaging	Het
Or12d12	C	T	17: 37,610,629 (GRCm39)	R228H	probably benign	Het
Or5w1	G	T	2: 87,486,757 (GRCm39)	C169*	probably null	Het
Piwil4	A	T	9: 14,645,783 (GRCm39)	F152I	probably damaging	Het
Plod3	T	C	5: 137,025,002 (GRCm39)	S705P	probably benign	Het
Ppp2r2c	T	A	5: 37,026,166 (GRCm39)	M1K	probably null	Het
Rgs19	T	C	2: 181,331,246 (GRCm39)	E129G	probably damaging	Het
Rpap2	T	A	5: 107,768,061 (GRCm39)	S223T	probably damaging	Het
Shox2	T	C	3: 66,881,104 (GRCm39)		probably benign	Het
Slc30a4	T	C	2: 122,527,137 (GRCm39)	I370V	probably benign	Het
Slco1b2	A	G	6: 141,609,398 (GRCm39)	I269M	possibly damaging	Het
Slco1c1	A	G	6: 141,485,793 (GRCm39)	Y142C	probably damaging	Het
Slco3a1	T	C	7: 73,934,198 (GRCm39)	N658S	probably benign	Het
Sos1	A	T	17: 80,741,329 (GRCm39)	S485R	probably benign	Het
St3gal6	T	A	16: 58,314,033 (GRCm39)		probably benign	Het
Stk4	T	A	2: 163,916,134 (GRCm39)	M1K	probably null	Het
Tbc1d12	A	G	19: 38,871,176 (GRCm39)	E313G	probably benign	Het
Tbk1	A	G	10: 121,393,134 (GRCm39)	I472T	probably benign	Het
Tiam1	G	A	16: 89,586,168 (GRCm39)	R849W	probably damaging	Het
Tle3	A	G	9: 61,317,307 (GRCm39)	T381A	probably benign	Het
Tmem82	T	G	4: 141,341,954 (GRCm39)	T337P	probably benign	Het
Tmprss15	T	C	16: 78,868,149 (GRCm39)	T220A	probably benign	Het
Ung	A	G	5: 114,275,369 (GRCm39)	K242E	possibly damaging	Het
Vmn1r211	A	T	13: 23,036,571 (GRCm39)	M32K	probably benign	Het
Vps13d	T	G	4: 144,771,658 (GRCm39)	D956A	probably damaging	Het
Wdr64	T	A	1: 175,594,722 (GRCm39)		probably null	Het

Other mutations in Srpk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6383:Srpk1	UTSW	17	28,809,036 (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

Posted On

2013-12-09