Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02211:Srpk3'

284704

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Srpk3

Ensembl Gene

ENSMUSG00000002007

Gene Name

serine/arginine-rich protein specific kinase 3

Synonyms

Mssk1, Stk23

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02211

Quality Score

Status

Chromosome

Chromosomal Location

72818011-72822531 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72818754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 114 (H114L)

Ref Sequence

ENSEMBL: ENSMUSP00000002081 (fasta)

Gene Model

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

AlphaFold

Q9Z0G2

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 benign
Transcript: ENSMUST00000002081
AA Change: H114L

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000002081
Gene: ENSMUSG00000002007
AA Change: H114L

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: ENSMUST00000130119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136664

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156299

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147127

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149478

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139630

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 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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apoc3	C	A	9: 46,144,513 (GRCm39)		probably benign	Het
Atp8a2	C	T	14: 60,265,425 (GRCm39)	G304R	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cct4	A	G	11: 22,943,327 (GRCm39)		probably benign	Het
Cd28	T	C	1: 60,802,153 (GRCm39)	V24A	probably damaging	Het
Cfap70	T	C	14: 20,445,040 (GRCm39)	N1080S	probably damaging	Het
Cpa6	A	T	1: 10,665,861 (GRCm39)	I59K	possibly damaging	Het
Cramp1	A	G	17: 25,196,610 (GRCm39)	S835P	possibly damaging	Het
Crim1	T	C	17: 78,662,574 (GRCm39)	L799S	probably damaging	Het
Cxcl16	T	C	11: 70,346,858 (GRCm39)	H95R	possibly damaging	Het
Dip2c	T	A	13: 9,660,883 (GRCm39)	C915S	probably damaging	Het
Dytn	T	A	1: 63,714,089 (GRCm39)	N137Y	possibly damaging	Het
Exoc5	T	A	14: 49,251,667 (GRCm39)	Q628L	probably damaging	Het
Flii	A	G	11: 60,609,124 (GRCm39)		probably benign	Het
Hnrnph3	A	T	10: 62,853,121 (GRCm39)		probably benign	Het
Iqsec1	A	G	6: 90,648,591 (GRCm39)	L830P	probably damaging	Het
Kank1	G	T	19: 25,407,702 (GRCm39)	G1232V	probably damaging	Het
Kcnmb2	A	G	3: 32,252,483 (GRCm39)	E228G	probably damaging	Het
Limk1	A	T	5: 134,686,491 (GRCm39)	V538E	probably damaging	Het
Mmp20	T	A	9: 7,655,071 (GRCm39)	I393K	probably damaging	Het
Mtmr1	A	G	X: 70,455,863 (GRCm39)	D574G	possibly damaging	Het
Nr1h2	A	C	7: 44,199,884 (GRCm39)	M345R	probably damaging	Het
Nyap1	T	C	5: 137,737,937 (GRCm39)	H15R	probably damaging	Het
Or2ak4	G	T	11: 58,649,196 (GRCm39)	S235I	possibly damaging	Het
Or52h7	A	T	7: 104,214,333 (GRCm39)	K302*	probably null	Het
Pde4b	T	G	4: 102,448,019 (GRCm39)		probably benign	Het
Pgrmc2	A	G	3: 41,037,068 (GRCm39)	V121A	probably damaging	Het
Ptges3	T	C	10: 127,911,927 (GRCm39)		probably benign	Het
Ranbp2	T	C	10: 58,314,064 (GRCm39)	S1595P	probably benign	Het
Rhbdf2	A	G	11: 116,491,261 (GRCm39)	F625L	possibly damaging	Het
Rhpn1	T	C	15: 75,582,905 (GRCm39)	S281P	possibly damaging	Het
Samd3	G	T	10: 26,109,455 (GRCm39)	G128W	probably damaging	Het
Septin5	T	C	16: 18,443,629 (GRCm39)	K51E	probably damaging	Het
Serpina7	G	A	X: 137,982,062 (GRCm39)	T185I	probably damaging	Het
Slc25a25	A	G	2: 32,307,452 (GRCm39)	V303A	probably damaging	Het
Slc5a4b	A	T	10: 75,896,297 (GRCm39)		probably benign	Het
Sybu	T	G	15: 44,536,862 (GRCm39)	Q360P	probably damaging	Het
Vmn1r179	A	T	7: 23,628,630 (GRCm39)	I274F	probably benign	Het
Wdsub1	G	T	2: 59,689,080 (GRCm39)	R381S	probably damaging	Het
Wscd1	G	A	11: 71,679,801 (GRCm39)	R558H	probably damaging	Het

Other mutations in Srpk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Myo_bone	UTSW	X	72,818,555 (GRCm39)	nonsense	probably null
R1822:Srpk3	UTSW	X	72,821,561 (GRCm39)	missense	possibly damaging	0.79
R1823:Srpk3	UTSW	X	72,821,561 (GRCm39)	missense	possibly damaging	0.79
R4601:Srpk3	UTSW	X	72,818,547 (GRCm39)	missense	possibly damaging	0.47
R4611:Srpk3	UTSW	X	72,818,547 (GRCm39)	missense	possibly damaging	0.47
R5246:Srpk3	UTSW	X	72,818,555 (GRCm39)	nonsense	probably null
R5247:Srpk3	UTSW	X	72,818,555 (GRCm39)	nonsense	probably null
R5248:Srpk3	UTSW	X	72,818,555 (GRCm39)	nonsense	probably null
R5249:Srpk3	UTSW	X	72,818,555 (GRCm39)	nonsense	probably null

Posted On

2015-04-16