|Institutional Source||Beutler Lab|
|Gene Name||serine/arginine-rich splicing factor 7|
|Synonyms||Sfrs7, 9430065L19Rik, 9G8, NX-96|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6004 (G1)|
|Chromosomal Location||80200089-80207305 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 80205853 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 68 (D68E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000070983 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000063417] [ENSMUST00000134652]|
|Predicted Effect||probably damaging
AA Change: D68E
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: D68E
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.9136|
|Coding Region Coverage||
|Validation Efficiency||98% (55/56)|
|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. Five transcript variants, four of them 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 Srsf7||
(F):5'- GACAGAATGAGGGCTCCAAC -3'
(R):5'- GAAATGAATTCCCTATCACACGTTG -3'
(F):5'- CCACCACCGGAGCTATATGGTG -3'
(R):5'- CCCTATCACACGTTGAATAACATTTG -3'