Incidental Mutation 'IGL03153:Srpk1'
ID411167
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srpk1
Ensembl Gene ENSMUSG00000004865
Gene Nameserine/arginine-rich protein specific kinase 1
SynonymsSR protein-specific kinase 1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.795) question?
Stock #IGL03153
Quality Score
Status
Chromosome17
Chromosomal Location28587648-28622521 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 28592266 bp
ZygosityHeterozygous
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]
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: 62,547,326 E419G possibly damaging Het
Abcg3 A G 5: 104,974,765 probably benign Het
Adam17 T C 12: 21,345,697 D256G probably damaging Het
Adgrb3 G A 1: 25,531,897 R500* probably null Het
Aldh3a2 A G 11: 61,258,839 Y234H probably damaging Het
Alpk3 A G 7: 81,093,395 T987A probably benign Het
Amtn A G 5: 88,384,969 K148E possibly damaging Het
Asap1 G A 15: 64,160,274 T237M probably damaging Het
Ccdc124 A T 8: 70,868,929 probably null Het
Cdon T C 9: 35,477,959 Y787H probably damaging Het
Coro7 A G 16: 4,635,382 probably null Het
Dram2 T A 3: 106,555,174 probably benign Het
Drd5 T C 5: 38,319,781 V39A probably benign Het
Ern1 A G 11: 106,410,098 L490P possibly damaging Het
Fat1 A G 8: 45,030,123 T3083A possibly damaging Het
Irgm1 A G 11: 48,866,267 I239T probably damaging Het
Klhl10 A T 11: 100,456,932 T605S probably benign Het
Lcor T A 19: 41,558,356 S126R probably damaging Het
Lgi4 G T 7: 31,060,558 V60F probably damaging Het
Lin37 G A 7: 30,557,160 R84W probably damaging Het
Lmf1 A G 17: 25,585,650 S97G possibly damaging Het
Oasl2 A G 5: 114,901,332 T194A probably benign Het
Olfr199 A G 16: 59,216,203 S137P probably benign Het
Pnpo A T 11: 96,943,835 F12I probably damaging Het
Prdm4 T C 10: 85,907,996 T132A probably benign Het
Ptbp2 T C 3: 119,751,944 T118A probably benign Het
Ptf1a T A 2: 19,446,645 probably benign Het
Rev3l T A 10: 39,806,878 F331I probably damaging Het
Rfx6 C A 10: 51,723,121 S524* probably null Het
Scube3 A G 17: 28,167,058 S758G possibly damaging Het
Slc44a2 T C 9: 21,343,200 I257T probably benign Het
Spon1 A T 7: 114,030,344 I408F probably damaging Het
Tenm4 A T 7: 96,873,762 I1467F probably damaging Het
Tex33 T C 15: 78,385,316 D188G probably damaging Het
Uggt1 A C 1: 36,202,818 V345G possibly damaging Het
Vmn1r23 A T 6: 57,925,932 I287K probably damaging Het
Whamm A G 7: 81,589,532 probably benign Het
Zeb1 A G 18: 5,770,511 D888G probably damaging Het
Zfp263 A G 16: 3,746,880 N253S possibly damaging Het
Zfp446 C A 7: 12,977,907 A19E probably benign Het
Other mutations in Srpk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01583:Srpk1 APN 17 28606317 missense probably damaging 1.00
IGL01792:Srpk1 APN 17 28599467 splice site probably benign
H8562:Srpk1 UTSW 17 28602733 missense probably benign 0.32
R0481:Srpk1 UTSW 17 28590244 splice site probably benign
R1160:Srpk1 UTSW 17 28599774 missense probably benign 0.05
R2188:Srpk1 UTSW 17 28594189 missense probably damaging 1.00
R4640:Srpk1 UTSW 17 28608724 missense probably benign
R4716:Srpk1 UTSW 17 28622008 missense probably benign 0.16
R4880:Srpk1 UTSW 17 28591225 missense probably damaging 0.98
R5458:Srpk1 UTSW 17 28599472 splice site probably null
R5533:Srpk1 UTSW 17 28602759 missense probably damaging 1.00
R6383:Srpk1 UTSW 17 28590062 missense probably damaging 1.00
R6766:Srpk1 UTSW 17 28602753 missense possibly damaging 0.85
R7483:Srpk1 UTSW 17 28594218 missense probably benign 0.11
X0058:Srpk1 UTSW 17 28602835 missense probably damaging 1.00
Posted On2016-08-02