|Institutional Source||Beutler Lab|
|Gene Name||sin3 associated polypeptide|
|Is this an essential gene?||Possibly essential (E-score: 0.599)|
|Stock #||R7428 (G1)|
|Chromosomal Location||57482707-57487860 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 57487512 bp|
|Amino Acid Change||Valine to Methionine at position 19 (V19M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034022 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034022]|
|PDB Structure||Solution structure of the mSin3A PAH3-SAP30 SID complex [SOLUTION NMR]|
|Predicted Effect||possibly damaging
AA Change: V19M
PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: V19M
|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.] Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP18, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This complex is active in deacetylating core histone octamers, but inactive in deacetylating nucleosomal histones. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sap30||
(F):5'- TCCTTTTGCTGAAGCTGGC -3'
(R):5'- CACAGGACCTGGTAGCTATTCC -3'
(F):5'- GCTGAAGCTGGCGTTGC -3'
(R):5'- TATTCCAGCACCGACAGACCG -3'