Incidental Mutation 'R1160:Srpk1'
ID100369
Institutional Source Beutler Lab
Gene Symbol Srpk1
Ensembl Gene ENSMUSG00000004865
Gene Nameserine/arginine-rich protein specific kinase 1
SynonymsSR protein-specific kinase 1
MMRRC Submission 039233-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.832) question?
Stock #R1160 (G1)
Quality Score182
Status Not validated
Chromosome17
Chromosomal Location28587648-28622521 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 28599774 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 363 (V363F)
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000126683
Predicted Effect probably benign
Transcript: ENSMUST00000130643
AA Change: V363F

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000116259
Gene: ENSMUSG00000004865
AA Change: V363F

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145730
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 92.7%
  • 20x: 81.6%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810403A07Rik C A 3: 88,708,862 P452Q probably damaging Het
Agap1 G T 1: 89,843,154 K622N probably damaging Het
Ap3b2 A T 7: 81,466,169 probably null Het
Arl5b T C 2: 15,069,837 V43A probably benign Het
Astn1 T C 1: 158,600,365 V702A possibly damaging Het
Bach1 T C 16: 87,715,434 V15A probably benign Het
Cacna1c C T 6: 118,612,625 R1446H probably damaging Het
Ccar2 C T 14: 70,139,769 V774M probably benign Het
Dcaf5 T C 12: 80,340,215 D379G possibly damaging Het
Dcpp1 T A 17: 23,881,431 I45K possibly damaging Het
Ddx17 T A 15: 79,541,087 S128C probably damaging Het
Eml3 A G 19: 8,933,250 N192S probably benign Het
Epha3 T G 16: 63,773,068 D219A probably damaging Het
Fhod3 C T 18: 24,985,236 A210V probably damaging Het
Klhl5 A G 5: 65,141,340 N154S probably benign Het
Lrif1 A G 3: 106,732,717 N373D possibly damaging Het
Map3k20 A G 2: 72,441,520 N664S probably benign Het
Olfr625-ps1 A G 7: 103,682,861 N38D possibly damaging Het
Parp14 G A 16: 35,856,760 A946V probably benign Het
Pdia3 G A 2: 121,432,377 G275S probably damaging Het
Pglyrp4 T A 3: 90,728,831 probably null Het
Pole A G 5: 110,295,253 E349G possibly damaging Het
Ptprj A G 2: 90,444,524 Y1165H probably damaging Het
Rasd1 T A 11: 59,964,721 I29F possibly damaging Het
Scamp3 T C 3: 89,181,198 F237S probably damaging Het
Sccpdh T G 1: 179,684,210 D82E probably benign Het
Slc19a3 A C 1: 83,022,692 H201Q possibly damaging Het
Slc5a4a G A 10: 76,178,161 A401T possibly damaging Het
Snupn T G 9: 56,957,105 C29W probably benign Het
Sorbs2 A G 8: 45,770,576 Y222C probably damaging Het
Sox17 A T 1: 4,491,852 V310E probably damaging Het
Srgap1 T A 10: 121,855,477 Y284F probably benign Het
Syt13 T A 2: 92,943,042 probably null Het
Taf2 A G 15: 55,071,397 V45A probably benign Het
Tal1 A T 4: 115,068,616 D294V probably damaging Het
Tbl2 A G 5: 135,159,392 T347A probably benign Het
Tet3 A G 6: 83,404,452 S110P probably benign Het
Tmem132a A G 19: 10,858,574 V864A probably damaging Het
Trak1 T C 9: 121,392,007 I80T probably benign Het
Trappc6b G A 12: 59,050,278 T86I probably damaging Het
Usf3 T A 16: 44,218,547 I1130N probably damaging Het
Xirp2 T C 2: 67,509,887 V824A possibly damaging Het
Zfp810 T C 9: 22,278,532 Y360C possibly damaging Het
Zmiz1 T A 14: 25,654,512 V685E probably damaging Het
Zp2 A T 7: 120,136,045 D368E probably damaging Het
Other mutations in Srpk1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6383:Srpk1 UTSW 17 28590062 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
X0058:Srpk1 UTSW 17 28602835 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15