|Institutional Source||Beutler Lab|
|Gene Name||serine/arginine-rich splicing factor 9|
|Synonyms||Sfrs9, 2610029M16Rik, SRp30c|
|Is this an essential gene?||Possibly non essential (E-score: 0.462)|
|Stock #||R1565 (G1)|
|Chromosomal Location||115327177-115333080 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 115327370 bp (GRCm38)|
|Amino Acid Change||Asparagine to Serine at position 21 (N21S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031513 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031513] [ENSMUST00000149510]|
|PDB Structure||Solution structure of RRM domain in protein BAB31986 [SOLUTION NMR]|
AA Change: N21S
PolyPhen 2 Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: N21S
|Meta Mutation Damage Score||0.2416|
|Coding Region Coverage||
|Validation Efficiency||96% (82/85)|
|MGI Phenotype||FUNCTION: The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Sep 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Srsf9||
(F):5'- AAGGACAGCCCCAAGCTTAGTGAC -3'
(R):5'- TTCCGATTGAAGGAAGTGACACCAG -3'
(F):5'- CTTAGTGACCTACCAGCTTAGGAG -3'
(R):5'- gggagggggaggggaag -3'