Incidental Mutation 'R5458:Srpk1'
ID 432901
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 043021-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.780) question?
Stock # R5458 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 28806622-28841683 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 28818446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000130643
SMART Domains Protein: ENSMUSP00000116259
Gene: ENSMUSG00000004865

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 98% (54/55)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrbp A G 6: 125,027,013 (GRCm39) probably benign Het
Acsl5 A G 19: 55,282,662 (GRCm39) D589G probably damaging Het
Akap13 T A 7: 75,236,049 (GRCm39) L208Q probably damaging Het
Ankfn1 C T 11: 89,325,636 (GRCm39) R512K probably benign Het
Ankhd1 T C 18: 36,781,538 (GRCm39) S2197P probably benign Het
Ankrd27 A G 7: 35,291,236 (GRCm39) N11D probably damaging Het
Aspg T C 12: 112,086,436 (GRCm39) V230A probably damaging Het
Atp2c1 A T 9: 105,291,924 (GRCm39) Y709* probably null Het
Atp8b2 T C 3: 89,853,329 (GRCm39) N748D probably benign Het
B4galnt3 A G 6: 120,187,346 (GRCm39) V684A probably damaging Het
Bco2 T C 9: 50,456,644 (GRCm39) probably null Het
Bcr T C 10: 74,990,792 (GRCm39) V766A probably benign Het
Brca1 T C 11: 101,408,111 (GRCm39) N1404S possibly damaging Het
Cfap251 A G 5: 123,392,508 (GRCm39) probably benign Het
Chd1 A G 17: 15,958,811 (GRCm39) D621G probably damaging Het
Chek1 A G 9: 36,625,725 (GRCm39) S307P probably benign Het
Dhx29 T C 13: 113,103,155 (GRCm39) M1345T probably benign Het
Dnah6 T A 6: 73,063,168 (GRCm39) T2697S probably damaging Het
Ephb4 T C 5: 137,368,114 (GRCm39) V753A probably damaging Het
Fat1 T C 8: 45,466,090 (GRCm39) Y1427H probably damaging Het
Fggy A G 4: 95,814,980 (GRCm39) Q445R probably benign Het
Fv1 A G 4: 147,954,726 (GRCm39) S431G probably benign Het
Gm5965 A T 16: 88,575,395 (GRCm39) R189S probably benign Het
Gnas A G 2: 174,140,124 (GRCm39) I98V probably benign Het
Ino80 T C 2: 119,242,910 (GRCm39) N1086D possibly damaging Het
Lclat1 T C 17: 73,546,914 (GRCm39) L277P probably damaging Het
Lipc T C 9: 70,759,864 (GRCm39) probably benign Het
Myo3a T C 2: 22,250,361 (GRCm39) I76T probably damaging Het
Nkpd1 C A 7: 19,258,201 (GRCm39) A510E probably damaging Het
Nlgn2 G T 11: 69,718,726 (GRCm39) Q285K possibly damaging Het
Or8s5 G A 15: 98,238,246 (GRCm39) A208V probably benign Het
Pax5 T C 4: 44,679,526 (GRCm39) D172G probably damaging Het
Pcdh15 T A 10: 74,340,611 (GRCm39) V1115D probably damaging Het
Pdzd7 T C 19: 45,016,230 (GRCm39) S964G probably benign Het
Phip G T 9: 82,808,553 (GRCm39) P474Q probably benign Het
Pop5 C T 5: 115,378,496 (GRCm39) probably benign Het
Ppfibp1 A T 6: 146,913,933 (GRCm39) probably benign Het
Rdh11 C T 12: 79,235,279 (GRCm39) A106T probably benign Het
Rin3 A G 12: 102,339,975 (GRCm39) T642A probably damaging Het
Scmh1 C T 4: 120,362,478 (GRCm39) probably benign Het
Skint2 A G 4: 112,481,377 (GRCm39) H80R possibly damaging Het
Spata16 A T 3: 26,831,686 (GRCm39) N265I probably damaging Het
Tcaf1 T C 6: 42,663,476 (GRCm39) T135A probably benign Het
Trappc12 A G 12: 28,796,389 (GRCm39) V381A probably damaging Het
Trim33 T A 3: 103,237,496 (GRCm39) I184K possibly damaging Het
Unc13a C T 8: 72,116,889 (GRCm39) V62M probably damaging Het
Vrk2 A G 11: 26,448,919 (GRCm39) V225A probably damaging Het
Wdr95 C T 5: 149,487,879 (GRCm39) P171L probably damaging Het
Wsb1 T C 11: 79,139,262 (GRCm39) T75A 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
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
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 PCR Primer
(F):5'- AGAGTCTGTCTACCCCATCC -3'
(R):5'- TCCACACTTTGAAGCAGGAACC -3'

Sequencing Primer
(F):5'- GTCTACCCCATCCCCACC -3'
(R):5'- TGAAGCAGGAACCTAGTTTCC -3'
Posted On 2016-10-06