Incidental Mutation 'R1160:Srpk1'
ID 100369
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 039233-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.780) question?
Stock # R1160 (G1)
Quality Score 182
Status Not validated
Chromosome 17
Chromosomal Location 28806622-28841683 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 28818748 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold O70551
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
Agap1 G T 1: 89,770,876 (GRCm39) K622N probably damaging Het
Ap3b2 A T 7: 81,115,917 (GRCm39) probably null Het
Arl5b T C 2: 15,074,648 (GRCm39) V43A probably benign Het
Astn1 T C 1: 158,427,935 (GRCm39) V702A possibly damaging Het
Bach1 T C 16: 87,512,322 (GRCm39) V15A probably benign Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Ccar2 C T 14: 70,377,218 (GRCm39) V774M probably benign Het
Dcaf5 T C 12: 80,386,989 (GRCm39) D379G possibly damaging Het
Dcpp1 T A 17: 24,100,405 (GRCm39) I45K possibly damaging Het
Ddx17 T A 15: 79,425,288 (GRCm39) S128C probably damaging Het
Eml3 A G 19: 8,910,614 (GRCm39) N192S probably benign Het
Epha3 T G 16: 63,593,431 (GRCm39) D219A probably damaging Het
Fhod3 C T 18: 25,118,293 (GRCm39) A210V probably damaging Het
Khdc4 C A 3: 88,616,169 (GRCm39) P452Q probably damaging Het
Klhl5 A G 5: 65,298,683 (GRCm39) N154S probably benign Het
Lrif1 A G 3: 106,640,033 (GRCm39) N373D possibly damaging Het
Map3k20 A G 2: 72,271,864 (GRCm39) N664S probably benign Het
Or52z15 A G 7: 103,332,068 (GRCm39) N38D possibly damaging Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pglyrp4 T A 3: 90,636,138 (GRCm39) probably null Het
Pole A G 5: 110,443,119 (GRCm39) E349G possibly damaging Het
Ptprj A G 2: 90,274,868 (GRCm39) Y1165H probably damaging Het
Rasd1 T A 11: 59,855,547 (GRCm39) I29F possibly damaging Het
Scamp3 T C 3: 89,088,505 (GRCm39) F237S probably damaging Het
Sccpdh T G 1: 179,511,775 (GRCm39) D82E probably benign Het
Slc19a3 A C 1: 83,000,413 (GRCm39) H201Q possibly damaging Het
Slc5a4a G A 10: 76,013,995 (GRCm39) A401T possibly damaging Het
Snupn T G 9: 56,864,389 (GRCm39) C29W probably benign Het
Sorbs2 A G 8: 46,223,613 (GRCm39) Y222C probably damaging Het
Sox17 A T 1: 4,562,075 (GRCm39) V310E probably damaging Het
Srgap1 T A 10: 121,691,382 (GRCm39) Y284F probably benign Het
Syt13 T A 2: 92,773,387 (GRCm39) probably null Het
Taf2 A G 15: 54,934,793 (GRCm39) V45A probably benign Het
Tal1 A T 4: 114,925,813 (GRCm39) D294V probably damaging Het
Tbl2 A G 5: 135,188,246 (GRCm39) T347A probably benign Het
Tet3 A G 6: 83,381,434 (GRCm39) S110P probably benign Het
Tmem132a A G 19: 10,835,938 (GRCm39) V864A probably damaging Het
Trak1 T C 9: 121,221,073 (GRCm39) I80T probably benign Het
Trappc6b G A 12: 59,097,064 (GRCm39) T86I probably damaging Het
Usf3 T A 16: 44,038,910 (GRCm39) I1130N probably damaging Het
Xirp2 T C 2: 67,340,231 (GRCm39) V824A possibly damaging Het
Zfp810 T C 9: 22,189,828 (GRCm39) Y360C possibly damaging Het
Zmiz1 T A 14: 25,654,936 (GRCm39) V685E probably damaging Het
Zp2 A T 7: 119,735,268 (GRCm39) D368E probably damaging Het
Other mutations in Srpk1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers
Posted On 2014-01-15