Incidental Mutation 'R2175:Hdac1'
ID 236815
Institutional Source Beutler Lab
Gene Symbol Hdac1
Ensembl Gene ENSMUSG00000028800
Gene Name histone deacetylase 1
Synonyms HD1, RPD3, MommeD5
MMRRC Submission 040177-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2175 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 129409897-129436506 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 129428463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 36 (R36C)
Ref Sequence ENSEMBL: ENSMUSP00000099657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102597]
AlphaFold O09106
Predicted Effect probably damaging
Transcript: ENSMUST00000102597
AA Change: R36C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099657
Gene: ENSMUSG00000028800
AA Change: R36C

DomainStartEndE-ValueType
Pfam:Hist_deacetyl 18 320 5.3e-86 PFAM
low complexity region 390 402 N/A INTRINSIC
low complexity region 417 430 N/A INTRINSIC
low complexity region 443 471 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139305
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype 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
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T A 8: 44,078,475 (GRCm39) Y583F probably benign Het
Adra2a A G 19: 54,034,793 (GRCm39) T50A probably benign Het
Alox8 T C 11: 69,078,592 (GRCm39) Y367C possibly damaging Het
Ankfn1 A G 11: 89,417,363 (GRCm39) L83P probably damaging Het
Asxl3 T C 18: 22,649,652 (GRCm39) L547P probably benign Het
Cox10 G A 11: 63,962,475 (GRCm39) A122V probably benign Het
Cttnbp2 A C 6: 18,434,828 (GRCm39) probably null Het
Eml5 A T 12: 98,842,482 (GRCm39) C205* probably null Het
Ephx3 T A 17: 32,407,433 (GRCm39) T204S possibly damaging Het
Evi5l A G 8: 4,237,269 (GRCm39) H124R probably damaging Het
Ext1 G T 15: 52,932,124 (GRCm39) P726Q probably damaging Het
Fam151b T C 13: 92,614,426 (GRCm39) R21G probably damaging Het
Ift172 A G 5: 31,424,029 (GRCm39) Y715H probably damaging Het
Inpp4b T C 8: 82,583,328 (GRCm39) F144S probably damaging Het
Lepr T A 4: 101,622,576 (GRCm39) I452N probably benign Het
Mok T C 12: 110,781,634 (GRCm39) H6R probably benign Het
Myef2 A T 2: 124,940,375 (GRCm39) M392K probably damaging Het
Ncoa2 G A 1: 13,294,837 (GRCm39) P28S probably damaging Het
Nfrkb A G 9: 31,300,310 (GRCm39) T34A possibly damaging Het
Nkx1-1 G A 5: 33,588,598 (GRCm39) A230V probably benign Het
Or10ag2 T A 2: 87,248,500 (GRCm39) L34H probably damaging Het
Or5an1b T A 19: 12,299,885 (GRCm39) Y102F probably damaging Het
Ryr1 T G 7: 28,767,867 (GRCm39) K2890T probably damaging Het
Siae G T 9: 37,539,092 (GRCm39) D168Y probably damaging Het
Smarcc1 A T 9: 109,993,877 (GRCm39) T241S possibly damaging Het
Steap2 T A 5: 5,723,501 (GRCm39) I460F probably damaging Het
Strap A G 6: 137,727,590 (GRCm39) T345A probably benign Het
Tex2 A G 11: 106,394,513 (GRCm39) V1099A unknown Het
Thsd7a T C 6: 12,331,943 (GRCm39) T1290A possibly damaging Het
Unc80 G A 1: 66,716,514 (GRCm39) G2878D probably damaging Het
Vmn2r63 C T 7: 42,583,004 (GRCm39) probably null Het
Xirp2 C T 2: 67,340,258 (GRCm39) T833I probably damaging Het
Zcchc2 T C 1: 105,955,153 (GRCm39) S615P probably damaging Het
Zfp148 C G 16: 33,317,116 (GRCm39) S554* probably null Het
Other mutations in Hdac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03169:Hdac1 APN 4 129,412,624 (GRCm39) missense probably null 0.08
R0783:Hdac1 UTSW 4 129,411,902 (GRCm39) missense probably benign 0.06
R1771:Hdac1 UTSW 4 129,415,221 (GRCm39) missense probably damaging 1.00
R1985:Hdac1 UTSW 4 129,422,753 (GRCm39) missense possibly damaging 0.86
R2119:Hdac1 UTSW 4 129,416,157 (GRCm39) missense probably benign 0.00
R2415:Hdac1 UTSW 4 129,416,754 (GRCm39) critical splice donor site probably null
R3809:Hdac1 UTSW 4 129,418,113 (GRCm39) missense probably damaging 1.00
R5243:Hdac1 UTSW 4 129,410,646 (GRCm39) intron probably benign
R5276:Hdac1 UTSW 4 129,422,716 (GRCm39) splice site probably null
R6274:Hdac1 UTSW 4 129,412,902 (GRCm39) missense probably damaging 1.00
R6843:Hdac1 UTSW 4 129,436,383 (GRCm39) missense probably damaging 1.00
R7599:Hdac1 UTSW 4 129,411,259 (GRCm39) nonsense probably null
R7816:Hdac1 UTSW 4 129,411,888 (GRCm39) missense probably damaging 0.99
R9169:Hdac1 UTSW 4 129,428,499 (GRCm39) missense probably damaging 1.00
Z1176:Hdac1 UTSW 4 129,436,409 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- CCACTGAATGAATGAGCAGCTGAG -3'
(R):5'- TTACAAACCGGAGAACCTGGG -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- ATCCCAGTACTTGGCAGAGTTAG -3'
Posted On 2014-10-02