|Institutional Source||Beutler Lab|
|Gene Name||splicing factor 3b, subunit 1|
|Synonyms||Targ4, SAP155, Prp10, 2810001M05Rik, SF3b155|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6945 (G1)|
|Chromosomal Location||54985169-55027481 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 54997156 bp|
|Amino Acid Change||Asparagine to Lysine at position 919 (N919K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027127 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027127]|
|Predicted Effect||probably benign
AA Change: N919K
PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: N919K
|Meta Mutation Damage Score||0.142|
|Coding Region Coverage||
|Validation Efficiency||96% (51/53)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes subunit 1 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. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null embryos die around the 16- to 32-cell stage. Heterozygous mice exhibit various skeletal transformations. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sf3b1||
(F):5'- TGCTGCCCAATACTTCAGGG -3'
(R):5'- TGACCAGTTGTCCTCAGTTTAAC -3'
(F):5'- GCCCAATACTTCAGGGTACTC -3'
(R):5'- ACAAATGGGATGTTTGGG -3'