|Institutional Source||Beutler Lab|
|Gene Name||splicing factor 3b, subunit 3|
|Synonyms||5730409A01Rik, 1810061H24Rik, D8Ertd633e, SAP130, RSE1|
|Is this an essential gene?||Probably essential (E-score: 0.966)|
|Stock #||R7638 (G1)|
|Chromosomal Location||110810239-110846787 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 110820813 bp|
|Amino Acid Change||Arginine to Cysteine at position 728 (R728C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045073 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042012]|
|Predicted Effect||probably damaging
AA Change: R728C
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: R728C
|Meta Mutation Damage Score||0.2561|
|Coding Region Coverage||
|Validation Efficiency||100% (71/71)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes subunit 3 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sf3b3||
(F):5'- GCTTCAAGCCTGAGGATTTTC -3'
(R):5'- AAGCCGTGTACTGCCTGTTTG -3'
(F):5'- TGGCTGTCCTGGAACTCAGAAATC -3'
(R):5'- GGGCTCCCTTTGTTTAAAGTGGC -3'