Incidental Mutation 'IGL03153:Srpk1'
ID 411167
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03153
Quality Score
Status
Chromosome 17
Chromosomal Location 28806622-28841683 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 28811240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 541 (D541Y)
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 possibly damaging
Transcript: ENSMUST00000130643
AA Change: D541Y

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116259
Gene: ENSMUSG00000004865
AA Change: D541Y

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: ENSMUST00000136504
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A G 4: 62,465,563 (GRCm39) E419G possibly damaging Het
Abcg3 A G 5: 105,122,631 (GRCm39) probably benign Het
Adam17 T C 12: 21,395,698 (GRCm39) D256G probably damaging Het
Adgrb3 G A 1: 25,570,978 (GRCm39) R500* probably null Het
Aldh3a2 A G 11: 61,149,665 (GRCm39) Y234H probably damaging Het
Alpk3 A G 7: 80,743,143 (GRCm39) T987A probably benign Het
Amtn A G 5: 88,532,828 (GRCm39) K148E possibly damaging Het
Asap1 G A 15: 64,032,123 (GRCm39) T237M probably damaging Het
Ccdc124 A T 8: 71,321,573 (GRCm39) probably null Het
Cdon T C 9: 35,389,255 (GRCm39) Y787H probably damaging Het
Cimip4 T C 15: 78,269,516 (GRCm39) D188G probably damaging Het
Coro7 A G 16: 4,453,246 (GRCm39) probably null Het
Dram2 T A 3: 106,462,490 (GRCm39) probably benign Het
Drd5 T C 5: 38,477,124 (GRCm39) V39A probably benign Het
Ern1 A G 11: 106,300,924 (GRCm39) L490P possibly damaging Het
Fat1 A G 8: 45,483,160 (GRCm39) T3083A possibly damaging Het
Irgm1 A G 11: 48,757,094 (GRCm39) I239T probably damaging Het
Klhl10 A T 11: 100,347,758 (GRCm39) T605S probably benign Het
Lcor T A 19: 41,546,795 (GRCm39) S126R probably damaging Het
Lgi4 G T 7: 30,759,983 (GRCm39) V60F probably damaging Het
Lin37 G A 7: 30,256,585 (GRCm39) R84W probably damaging Het
Lmf1 A G 17: 25,804,624 (GRCm39) S97G possibly damaging Het
Oasl2 A G 5: 115,039,393 (GRCm39) T194A probably benign Het
Or5ac17 A G 16: 59,036,566 (GRCm39) S137P probably benign Het
Pnpo A T 11: 96,834,661 (GRCm39) F12I probably damaging Het
Prdm4 T C 10: 85,743,860 (GRCm39) T132A probably benign Het
Ptbp2 T C 3: 119,545,593 (GRCm39) T118A probably benign Het
Ptf1a T A 2: 19,451,456 (GRCm39) probably benign Het
Rev3l T A 10: 39,682,874 (GRCm39) F331I probably damaging Het
Rfx6 C A 10: 51,599,217 (GRCm39) S524* probably null Het
Scube3 A G 17: 28,386,032 (GRCm39) S758G possibly damaging Het
Slc44a2 T C 9: 21,254,496 (GRCm39) I257T probably benign Het
Spon1 A T 7: 113,629,579 (GRCm39) I408F probably damaging Het
Tenm4 A T 7: 96,522,969 (GRCm39) I1467F probably damaging Het
Uggt1 A C 1: 36,241,899 (GRCm39) V345G possibly damaging Het
Vmn1r23 A T 6: 57,902,917 (GRCm39) I287K probably damaging Het
Whamm A G 7: 81,239,280 (GRCm39) probably benign Het
Zeb1 A G 18: 5,770,511 (GRCm39) D888G probably damaging Het
Zfp263 A G 16: 3,564,744 (GRCm39) N253S possibly damaging Het
Zfp446 C A 7: 12,711,834 (GRCm39) A19E 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
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
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
Posted On 2016-08-02