Incidental Mutation 'H8562:Srpk1'
ID 44402
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.780) question?
Stock # H8562 (G3) of strain 604
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 28806622-28841683 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28821707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 236 (T236S)
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: T164S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000004987
Gene: ENSMUSG00000004865
AA Change: T164S

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: T236S

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000116259
Gene: ENSMUSG00000004865
AA Change: T236S

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 0.1735 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 96% (109/114)
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: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,771,717 (GRCm39) C400R probably damaging Het
4930519F16Rik A T X: 102,299,463 (GRCm39) noncoding transcript Het
5430402E10Rik G T X: 76,966,340 (GRCm39) H117Q probably damaging Het
Abca15 T C 7: 119,974,077 (GRCm39) probably benign Het
Abca8a A G 11: 109,933,835 (GRCm39) I1190T probably benign Het
Acmsd T C 1: 127,676,795 (GRCm39) Y107H probably benign Het
Adcy5 A G 16: 35,087,551 (GRCm39) I471V probably damaging Het
Aff2 G A X: 68,892,532 (GRCm39) A939T unknown Het
Ampd2 C A 3: 107,988,427 (GRCm39) A11S probably benign Het
Aoah T A 13: 21,000,694 (GRCm39) C43S probably damaging Het
Apobec4 T C 1: 152,632,925 (GRCm39) S318P probably damaging Het
Arid2 C T 15: 96,267,427 (GRCm39) P636S possibly damaging Het
Atp13a3 A T 16: 30,178,543 (GRCm39) C164* probably null Het
Avl9 G A 6: 56,734,295 (GRCm39) A625T probably damaging Het
Bco1 G T 8: 117,832,386 (GRCm39) probably benign Het
Brd3 C T 2: 27,340,545 (GRCm39) G555S possibly damaging Het
Brd4 A T 17: 32,448,377 (GRCm39) probably benign Het
Btbd7 A G 12: 102,754,561 (GRCm39) V735A probably benign Het
C2cd2 G T 16: 97,680,840 (GRCm39) Q325K possibly damaging Het
Carmil1 A G 13: 24,248,630 (GRCm39) V485A probably benign Het
Casz1 T C 4: 149,017,908 (GRCm39) L113P probably damaging Het
Ccdc3 T C 2: 5,143,016 (GRCm39) L91S probably damaging Het
Cd180 A G 13: 102,841,926 (GRCm39) K324R probably benign Het
Cd200r4 A G 16: 44,653,736 (GRCm39) T132A possibly damaging Het
Cops7a A G 6: 124,939,416 (GRCm39) probably benign Het
Cyp2c29 A T 19: 39,298,106 (GRCm39) N217I probably damaging Het
Dapk1 C A 13: 60,909,126 (GRCm39) H1246Q probably damaging Het
Dmbt1 T A 7: 130,713,805 (GRCm39) C1450* probably null Het
Dnah10 T A 5: 124,906,593 (GRCm39) M4151K probably damaging Het
Dnai1 C A 4: 41,629,833 (GRCm39) F452L possibly damaging Het
Dync1h1 T C 12: 110,583,241 (GRCm39) M446T probably benign Het
Dytn A C 1: 63,714,071 (GRCm39) S143A possibly damaging Het
E130308A19Rik T A 4: 59,691,033 (GRCm39) L289Q possibly damaging Het
Efemp2 G T 19: 5,530,677 (GRCm39) V250L probably benign Het
Elmo1 T C 13: 20,465,033 (GRCm39) S201P probably damaging Het
Fam222b T A 11: 78,045,404 (GRCm39) C194S probably damaging Het
Fam91a1 G A 15: 58,298,970 (GRCm39) probably null Het
Fcf1 T A 12: 85,027,386 (GRCm39) probably benign Het
Fnip1 T A 11: 54,371,123 (GRCm39) F134L probably damaging Het
Fyn T C 10: 39,387,950 (GRCm39) S69P probably benign Het
Gabbr1 T C 17: 37,382,841 (GRCm39) Y845H probably damaging Het
Gfra2 C T 14: 71,215,818 (GRCm39) T169M possibly damaging Het
Gm5435 T C 12: 82,542,449 (GRCm39) noncoding transcript Het
Gm7251 A G 13: 49,959,148 (GRCm39) Y94H probably damaging Het
Gvin3 A G 7: 106,202,356 (GRCm39) F296S probably damaging Het
H2bc15 T C 13: 21,938,648 (GRCm39) V119A probably benign Het
Heatr1 T A 13: 12,423,594 (GRCm39) N530K probably benign Het
Icam5 A T 9: 20,946,442 (GRCm39) E355V probably benign Het
Ighv3-6 A G 12: 114,252,158 (GRCm39) probably benign Het
Intu T C 3: 40,647,103 (GRCm39) S659P probably damaging Het
Ivns1abp T C 1: 151,230,446 (GRCm39) V198A probably damaging Het
Katnb1 T A 8: 95,822,138 (GRCm39) probably benign Het
Kcna5 T C 6: 126,510,386 (GRCm39) S581G probably damaging Het
Kif23 A G 9: 61,831,347 (GRCm39) V741A probably benign Het
Lbr A T 1: 181,648,233 (GRCm39) probably benign Het
Loxhd1 A C 18: 77,429,627 (GRCm39) T508P possibly damaging Het
Lrrk2 T A 15: 91,557,561 (GRCm39) N26K probably benign Het
Ly96 A T 1: 16,761,918 (GRCm39) K41N probably damaging Het
Lypd1 C T 1: 125,838,274 (GRCm39) probably benign Het
Macf1 A G 4: 123,359,833 (GRCm39) V1817A probably benign Het
Mknk2 A G 10: 80,504,768 (GRCm39) probably benign Het
Mmp19 A T 10: 128,631,470 (GRCm39) I117L probably benign Het
Mmrn1 G A 6: 60,935,164 (GRCm39) G220D probably damaging Het
Mtrr T C 13: 68,712,496 (GRCm39) H630R probably damaging Het
Nfat5 T C 8: 108,066,014 (GRCm39) probably benign Het
Ngef C A 1: 87,415,529 (GRCm39) K288N possibly damaging Het
Nkain4 T C 2: 180,584,938 (GRCm39) E71G probably benign Het
Odc1 T C 12: 17,598,038 (GRCm39) Y122H probably benign Het
Or1e25 T C 11: 73,494,273 (GRCm39) I289T probably damaging Het
Or2d2 C A 7: 106,728,448 (GRCm39) A51S probably benign Het
Or8g51 C A 9: 38,609,206 (GRCm39) G156V probably damaging Het
Osbpl3 A T 6: 50,324,446 (GRCm39) N190K probably benign Het
Osgepl1 T C 1: 53,354,198 (GRCm39) V54A probably damaging Het
Otogl T C 10: 107,746,817 (GRCm39) Y19C probably benign Het
Pop1 T C 15: 34,530,358 (GRCm39) S919P probably benign Het
Pramel21 T A 4: 143,341,920 (GRCm39) probably benign Het
Prl8a9 A G 13: 27,746,584 (GRCm39) probably benign Het
Prr14l A T 5: 32,951,072 (GRCm39) V1907D probably damaging Het
Ptprn T C 1: 75,231,264 (GRCm39) T547A possibly damaging Het
Rdh14 G T 12: 10,444,709 (GRCm39) V187F probably damaging Het
Rev1 A G 1: 38,095,848 (GRCm39) L853P probably damaging Het
Robo4 T C 9: 37,317,106 (GRCm39) probably benign Het
Ryr2 A G 13: 11,732,027 (GRCm39) probably benign Het
Sec16a G A 2: 26,331,517 (GRCm39) P166L probably benign Het
Slc6a19 G A 13: 73,848,243 (GRCm39) probably benign Het
Slco4c1 T A 1: 96,770,210 (GRCm39) T285S probably benign Het
Speg G T 1: 75,392,241 (GRCm39) A1633S probably benign Het
Stxbp5 T C 10: 9,645,187 (GRCm39) N262S probably benign Het
Suco T C 1: 161,680,420 (GRCm39) E317G probably damaging Het
Syk A G 13: 52,794,657 (GRCm39) N441D probably damaging Het
Syt17 T C 7: 118,007,292 (GRCm39) K334R probably benign Het
Sytl5 A T X: 9,826,335 (GRCm39) H436L probably benign Het
Tasor2 A T 13: 3,627,000 (GRCm39) S983R probably damaging Het
Thada A G 17: 84,753,972 (GRCm39) L333P probably damaging Het
Thap12 T C 7: 98,364,314 (GRCm39) Y161H probably damaging Het
Thbs2 C T 17: 14,891,715 (GRCm39) V941I probably benign Het
Tktl1 A T X: 73,225,470 (GRCm39) E72V probably damaging Het
Tm4sf5 T A 11: 70,396,338 (GRCm39) probably benign Het
Urb1 T A 16: 90,566,357 (GRCm39) M1477L probably benign Het
Vcp T A 4: 42,982,596 (GRCm39) I699F probably damaging Het
Vmn1r232 T C 17: 21,133,656 (GRCm39) T315A probably benign Het
Vmn2r100 T A 17: 19,741,752 (GRCm39) W155R possibly damaging Het
Vmn2r19 T C 6: 123,292,861 (GRCm39) I301T possibly damaging Het
Wwc2 A G 8: 48,373,701 (GRCm39) V55A possibly damaging Het
Xirp2 A G 2: 67,345,801 (GRCm39) T2681A probably benign Het
Zfp39 C A 11: 58,791,512 (GRCm39) L58F probably damaging Het
Zfp612 T C 8: 110,816,670 (GRCm39) F587L probably damaging Het
Zfp810 T C 9: 22,190,387 (GRCm39) R174G probably benign Het
Zfta A G 19: 7,400,286 (GRCm39) K251E 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
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
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'- AGCTACATGCCCCTACAAAGGAGTC -3'
(R):5'- ACCGTGTGTTACTGAAGCTCCTGC -3'

Sequencing Primer
(F):5'- TCCCATTTGGAAGAAATACCAGTCTC -3'
(R):5'- GAAGCTCCTGCTTTATTCTCACTTAG -3'
Posted On 2013-06-11