Mutagenetix > Incidental Mutations

Incidental Mutation 'R5248:Srpk3'

398714

Institutional Source

Beutler Lab

Gene Symbol

Srpk3

Ensembl Gene

ENSMUSG00000002007

Gene Name

serine/arginine-rich protein specific kinase 3

Synonyms

Stk23, Mssk1

MMRRC Submission

042819-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5248 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

73774405-73778925 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 73774949 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 82 (R82*)

Ref Sequence

ENSEMBL: ENSMUSP00000002081 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002079] [ENSMUST00000002081] [ENSMUST00000052761]

Predicted Effect

probably benign
Transcript: ENSMUST00000002079

SMART Domains

Protein: ENSMUSP00000002079
Gene: ENSMUSG00000031385

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
Sema	44	445	5.53e-102	SMART
PSI	463	515	8.91e-10	SMART
Blast:Sema	533	592	2e-9	BLAST
PSI	609	671	8.95e-1	SMART
PSI	776	822	5e-1	SMART
IPT	823	914	7.15e-15	SMART
IPT	915	1001	5.63e-13	SMART
IPT	1003	1134	7.17e-1	SMART
Pfam:TIG	1148	1232	7.7e-7	PFAM
low complexity region	1246	1265	N/A	INTRINSIC
Pfam:Plexin_cytopl	1317	1869	2.7e-225	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000002081
AA Change: R82*

SMART Domains

Protein: ENSMUSP00000002081
Gene: ENSMUSG00000002007
AA Change: R82*

Domain	Start	End	E-Value	Type
low complexity region	6	31	N/A	INTRINSIC
Pfam:Pkinase	78	228	1.4e-22	PFAM
Pfam:Pkinase_Tyr	78	230	1.1e-9	PFAM
coiled coil region	260	300	N/A	INTRINSIC
low complexity region	325	338	N/A	INTRINSIC
low complexity region	341	360	N/A	INTRINSIC
Pfam:Pkinase	385	563	2.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000052761

SMART Domains

Protein: ENSMUSP00000056502
Gene: ENSMUSG00000002010

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
Iso_dh	56	379	1.1e-141	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136664

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139630

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147127

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156299

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein kinase similar to a protein kinase which is specific for the SR (serine/arginine-rich domain) family of splicing factors. A highly similar protein has been shown to play a role in muscle development in mice. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
PHENOTYPE: Homozygous mice exhibit defects in skeletal muscle growth and myopathy of type 2 muscle fibers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,109,438	E344D	probably benign	Het
Acoxl	G	A	2: 128,075,935		probably null	Het
Adora1	A	T	1: 134,203,486	L149Q	possibly damaging	Het
Aebp1	C	A	11: 5,868,501	D115E	possibly damaging	Het
Ank3	A	G	10: 69,987,108	I1819V	probably benign	Het
Ankrd44	T	C	1: 54,667,380	H454R	probably damaging	Het
Ap4e1	C	T	2: 127,064,922	A1034V	possibly damaging	Het
B3galt2	T	A	1: 143,647,111	F328L	probably benign	Het
Bbip1	G	A	19: 53,931,355		probably benign	Het
Brsk1	G	A	7: 4,708,866	E572K	possibly damaging	Het
Clca3a1	G	T	3: 144,737,136	P716T	possibly damaging	Het
Clpx	T	C	9: 65,320,850	V380A	probably damaging	Het
Epha3	T	A	16: 63,598,257	Q608H	probably damaging	Het
Gprc6a	G	T	10: 51,614,993	P712T	probably damaging	Het
Itpr1	C	A	6: 108,542,062	Q2720K	probably damaging	Het
Kdm5b	A	G	1: 134,620,997	E1080G	probably benign	Het
Macf1	G	A	4: 123,401,774	R3163*	probably null	Het
Map4k5	T	C	12: 69,841,981	D292G	probably benign	Het
Mau2	A	T	8: 70,028,723	C217S	probably benign	Het
Mtf1	T	C	4: 124,820,427	F210L	probably damaging	Het
Mtif2	G	A	11: 29,536,889	V300M	probably damaging	Het
Mtmr2	T	C	9: 13,783,609		probably benign	Het
Mybpc3	C	A	2: 91,125,228		probably null	Het
Ncmap	T	C	4: 135,380,119		probably null	Het
Nek9	A	G	12: 85,308,977	F672S	probably damaging	Het
Nuak1	A	T	10: 84,409,678	I101N	probably damaging	Het
Olfr285	T	C	15: 98,313,430	N40S	probably damaging	Het
Pcdh7	T	A	5: 58,129,173	M1197K	probably damaging	Het
Pcdhb17	A	C	18: 37,485,886	Q243P	probably benign	Het
Pcf11	T	G	7: 92,661,491	K221Q	probably damaging	Het
Pkhd1	C	T	1: 20,534,545	R1182H	probably benign	Het
Ptprz1	C	A	6: 23,001,901	P1330Q	probably benign	Het
Rbm33	T	G	5: 28,337,052		probably null	Het
Rhobtb1	A	G	10: 69,248,785	D2G	probably damaging	Het
Rngtt	T	A	4: 33,325,110	C110*	probably null	Het
Setx	T	A	2: 29,148,418	N1638K	probably benign	Het
Slc24a3	A	T	2: 145,604,517	M282L	probably benign	Het
Slc7a1	A	T	5: 148,333,988	V556D	possibly damaging	Het
Sppl2c	A	T	11: 104,186,581	D69V	possibly damaging	Het
Tas2r120	A	T	6: 132,657,147	N64I	probably damaging	Het
Tcf25	G	T	8: 123,373,939	A23S	probably damaging	Het
Tigd2	A	T	6: 59,211,153	K335I	probably damaging	Het
Tlr6	A	G	5: 64,955,304	S87P	probably benign	Het
Tmem135	T	A	7: 89,147,992	Y352F	probably damaging	Het
Tob2	T	C	15: 81,851,717	Y17C	probably damaging	Het
Tymp	GC	GCC	15: 89,374,364		probably null	Het
Vmn1r179	T	C	7: 23,929,053	V223A	probably damaging	Het
Zfp946	T	C	17: 22,454,466	V67A	probably benign	Het
Zswim4	G	T	8: 84,219,932	N698K	probably benign	Het
Zzz3	A	G	3: 152,427,545	Q80R	probably damaging	Het

Other mutations in Srpk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02211:Srpk3	APN	X	73775148	missense	probably benign	0.33
Myo_bone	UTSW	X	73774949	nonsense	probably null
R1822:Srpk3	UTSW	X	73777955	missense	possibly damaging	0.79
R1823:Srpk3	UTSW	X	73777955	missense	possibly damaging	0.79
R4601:Srpk3	UTSW	X	73774941	missense	possibly damaging	0.47
R4611:Srpk3	UTSW	X	73774941	missense	possibly damaging	0.47
R5246:Srpk3	UTSW	X	73774949	nonsense	probably null
R5247:Srpk3	UTSW	X	73774949	nonsense	probably null
R5249:Srpk3	UTSW	X	73774949	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATTGCAAGGGTAAGGCCTGG -3'
(R):5'- CACTTTCAGGGCCACAAAGC -3'

Sequencing Primer
(F):5'- CAAGGGCTCAGGACAGCTTG -3'
(R):5'- AAAGCGCTTGCGCCTGTAATATG -3'

Posted On

2016-07-06