|Institutional Source||Beutler Lab|
|Gene Name||histone deacetylase 1|
|Synonyms||HD1, MommeD5, RPD3|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6843 (G1)|
|Chromosomal Location||129516104-129542713 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 129542590 bp|
|Amino Acid Change||Tyrosine to Histidine at position 14 (Y14H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099657 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102597]|
|Predicted Effect||probably damaging
AA Change: Y14H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y14H
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Histone acetylation and deacetylation, catalyzed by multisubunit complexes, play a key role in the regulation of eukaryotic gene expression. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family and is a component of the histone deacetylase complex. It also interacts with retinoblastoma tumor-suppressor protein and this complex is a key element in the control of cell proliferation and differentiation. Together with metastasis-associated protein-2, it deacetylates p53 and modulates its effect on cell growth and apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos between E9.5 and E10.5. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hdac1||
(F):5'- CCAACTTCAGGTCGGATTCC -3'
(R):5'- CTGTGCGGCTATAGGTGATC -3'
(F):5'- GGGATTACCGCAGACTACC -3'
(R):5'- GGCTATAGGTGATCCCGGG -3'