Incidental Mutation 'R6766:Srpk1'
ID 531947
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 044882-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.780) question?
Stock # R6766 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 28806622-28841683 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 28821727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 229 (R229Q)
Ref Sequence ENSEMBL: ENSMUSP00000116259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004987] [ENSMUST00000130643]
AlphaFold O70551
Predicted Effect probably benign
Transcript: ENSMUST00000004987
AA Change: R157Q

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000004987
Gene: ENSMUSG00000004865
AA Change: R157Q

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 possibly damaging
Transcript: ENSMUST00000130643
AA Change: R229Q

PolyPhen 2 Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116259
Gene: ENSMUSG00000004865
AA Change: R229Q

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 96.7%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 G A 8: 25,362,646 (GRCm39) S17L probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Ankrd34c A G 9: 89,611,381 (GRCm39) V320A probably benign Het
Aox1 C A 1: 58,388,227 (GRCm39) L1112I possibly damaging Het
Arap2 A C 5: 62,834,443 (GRCm39) probably null Het
Atm A T 9: 53,401,582 (GRCm39) I1429N probably damaging Het
Ccdc68 A G 18: 70,099,861 (GRCm39) N290D probably damaging Het
Chst1 T C 2: 92,443,542 (GRCm39) W5R probably damaging Het
Clip1 G T 5: 123,752,827 (GRCm39) probably benign Het
Crebbp T C 16: 3,935,364 (GRCm39) T842A probably damaging Het
Cyp2b13 T C 7: 25,781,236 (GRCm39) probably null Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock1 T A 7: 134,358,522 (GRCm39) probably null Het
Dst A G 1: 34,333,564 (GRCm39) I4800V probably damaging Het
Efcab7 CAAGTAAAGTAA CAAGTAA 4: 99,735,161 (GRCm39) probably null Het
Epb41l2 C T 10: 25,348,990 (GRCm39) Q382* probably null Het
Fam83e A G 7: 45,376,070 (GRCm39) D261G probably damaging Het
Ifnk T G 4: 35,152,134 (GRCm39) S21A possibly damaging Het
Ift122 A G 6: 115,903,204 (GRCm39) H1157R probably benign Het
Ighv1-67 T C 12: 115,567,654 (GRCm39) K67R possibly damaging Het
Inpp4a C A 1: 37,411,422 (GRCm39) A97D probably damaging Het
Insm1 T A 2: 146,065,346 (GRCm39) Y387* probably null Het
Irgm1 T C 11: 48,756,928 (GRCm39) I294M possibly damaging Het
Isoc2b C T 7: 4,854,061 (GRCm39) V104M probably damaging Het
Kif2c A C 4: 117,024,280 (GRCm39) S311R probably benign Het
Morn3 G A 5: 123,179,270 (GRCm39) A60V probably damaging Het
Oit3 T C 10: 59,274,534 (GRCm39) N89D probably damaging Het
Or14c40 A T 7: 86,313,293 (GRCm39) N141I probably damaging Het
Or4c116 G T 2: 88,942,640 (GRCm39) T72N possibly damaging Het
Or4c127 T C 2: 89,832,876 (GRCm39) V42A probably benign Het
Or5d44 T A 2: 88,142,095 (GRCm39) Q15L noncoding transcript Het
Or8b48 A C 9: 38,493,069 (GRCm39) R165S probably damaging Het
Pan2 C A 10: 128,150,381 (GRCm39) N708K possibly damaging Het
Parp1 T A 1: 180,425,927 (GRCm39) V886E probably damaging Het
Pcdha8 C A 18: 37,127,753 (GRCm39) A745E probably benign Het
Pcyox1 C T 6: 86,371,390 (GRCm39) probably null Het
Prl2c2 A T 13: 13,176,713 (GRCm39) probably null Het
Samd1 T C 8: 84,726,361 (GRCm39) S473P possibly damaging Het
Slc26a1 A T 5: 108,819,773 (GRCm39) D475E probably damaging Het
Slco1c1 T C 6: 141,493,535 (GRCm39) V239A possibly damaging Het
Smo T A 6: 29,736,044 (GRCm39) L12Q unknown Homo
Syn2 T A 6: 115,216,362 (GRCm39) F191L probably damaging Het
Syngr2 T C 11: 117,704,261 (GRCm39) V182A probably benign Het
Tarbp1 G A 8: 127,174,139 (GRCm39) A889V probably benign Het
Tbc1d2b T C 9: 90,108,262 (GRCm39) T430A probably benign Het
Tmem217 T A 17: 29,745,484 (GRCm39) Y82F probably damaging Het
Ttll9 T A 2: 152,841,220 (GRCm39) Y272* probably null Het
Uts2r A G 11: 121,052,033 (GRCm39) Y299C probably damaging Het
Vsig8 T A 1: 172,388,143 (GRCm39) M37K probably benign Het
Vwf G T 6: 125,616,339 (GRCm39) D1218Y unknown Het
Wdr11 T G 7: 129,226,036 (GRCm39) M727R probably benign Het
Wwc2 A G 8: 48,353,826 (GRCm39) Y103H possibly damaging Het
Yod1 T A 1: 130,647,008 (GRCm39) L295* probably null Het
Zfp113 G T 5: 138,143,608 (GRCm39) S214* probably null Het
Zfp438 T A 18: 5,213,780 (GRCm39) M393L probably benign Het
Zfp946 G A 17: 22,674,752 (GRCm39) C502Y probably benign 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
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
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'- CCCATTTGGAAGAAATACCAGTCTC -3'
(R):5'- GCACCTGCGAACCCTCTCT -3'

Sequencing Primer
(F):5'- TGGAAGAAATACCAGTCTCTTTAATG -3'
(R):5'- GAACCCTCTCTCTGTGCGTTG -3'
Posted On 2018-08-29