|Institutional Source||Beutler Lab|
|Gene Name||serine/arginine-rich protein specific kinase 1|
|Synonyms||SR protein-specific kinase 1|
|Is this an essential gene?||Probably essential (E-score: 0.794)|
|Stock #||R6383 (G1)|
|Chromosomal Location||28587648-28622521 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 28590062 bp|
|Amino Acid Change||Serine to Proline at position 648 (S648P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000116259 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004987] [ENSMUST00000130643]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: S648P
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: S648P
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|Validation Efficiency||97% (73/75)|
|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||
|Other mutations in Srpk1||
(F):5'- ACACTTTTAGTCTTTGGCAGAGC -3'
(R):5'- GCACATCACCAAGTTGAAGC -3'
(F):5'- TTCACCTAGGATGCCCAATGG -3'
(R):5'- CAAGTTGAAGCCTTGGGGTC -3'