|Institutional Source||Beutler Lab|
|Gene Name||SNW domain containing 1|
|Synonyms||Skiip, SKIP, NCoA-62, 2310008B08Rik, SNW1|
|Is this an essential gene?||Probably essential (E-score: 0.960)|
|Stock #||R4907 (G1)|
|Chromosomal Location||87449075-87472274 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 87459489 bp|
|Amino Acid Change||Isoleucine to Valine at position 214 (I214V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021428 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021428]|
|Predicted Effect||probably benign
AA Change: I214V
PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: I214V
|Meta Mutation Damage Score||0.1162|
|Coding Region Coverage||
|Validation Efficiency||98% (89/91)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, a member of the SNW gene family, encodes a coactivator that enhances transcription from some Pol II promoters. This coactivator can bind to the ligand-binding domain of the vitamin D receptor and to retinoid receptors to enhance vitamin D-, retinoic acid-, estrogen-, and glucocorticoid-mediated gene expression. It can also function as a splicing factor by interacting with poly(A)-binding protein 2 to directly control the expression of muscle-specific genes at the transcriptional level. Finally, the protein may be involved in oncogenesis since it interacts with a region of SKI oncoproteins that is required for transforming activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Snw1||
(F):5'- CCCACGGACTCATTCTCAGAAG -3'
(R):5'- AGAGATCTGGGTCATGCACAAG -3'
(F):5'- GCACACCGAACTATACTTTAGTC -3'
(R):5'- ACTGTCTAGATTGTTACCCAGGTGAC -3'