|Institutional Source||Beutler Lab|
|Gene Name||splicing factor 3b, subunit 2|
|Synonyms||145kDa, 2610311M13Rik, 2810441F20Rik, SF3b150, SF3b145, B230398H18Rik, SAP145, SF3b1|
|Is this an essential gene?||Probably essential (E-score: 0.975)|
|Stock #||R6208 (G1)|
|Chromosomal Location||5273923-5295455 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 5275098 bp|
|Amino Acid Change||Methionine to Lysine at position 782 (M782K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025774 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025774] [ENSMUST00000025786]|
|Predicted Effect||possibly damaging
AA Change: M782K
PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: M782K
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.262|
|Coding Region Coverage||
|Validation Efficiency||98% (57/58)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes subunit 2 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 2 associates with pre-mRNA upstream of the branch site at the anchoring site. Subunit 2 also interacts directly with subunit 4 of the splicing factor 3b complex. Subunit 2 is a highly hydrophilic protein with a proline-rich N-terminus and a glutamate-rich stretch in the C-terminus. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sf3b2||
(F):5'- TACTTCTGCGTCATGGCCATG -3'
(R):5'- CCTTCAGCCGTAGTTATCTTGGG -3'
(F):5'- GGGTCCAACTCCAATTCCTCAGG -3'
(R):5'- CAGCCGTAGTTATCTTGGGATTCTC -3'