|Institutional Source||Beutler Lab|
|Gene Name||splicing factor 3a, subunit 3|
|Is this an essential gene?||Probably essential (E-score: 0.968)|
|Stock #||R3434 (G1)|
|Chromosomal Location||124714776-124732460 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 124725077 bp|
|Amino Acid Change||Threonine to Asparagine at position 277 (T277N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030734 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030734]|
|Predicted Effect||possibly damaging
AA Change: T277N
PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: T277N
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2981|
|Coding Region Coverage||
|Validation Efficiency||98% (54/55)|
|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 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 3 interacts with subunit 1 through its amino-terminus while the zinc finger domain of subunit 3 plays a role in its binding to the 15S U2 snRNP. This gene has a pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sf3a3||
(F):5'- GGGTAAGAACCTGGTTTTGCTA -3'
(R):5'- GAGAAGTAGAAAGCAGACTCCAT -3'
(F):5'- TGGATGATCATCTAAGTGGCTC -3'
(R):5'- CTCCATGGGAAAGACATGTAGACC -3'