Incidental Mutation 'R0783:Hdac1'
ID 76714
Institutional Source Beutler Lab
Gene Symbol Hdac1
Ensembl Gene ENSMUSG00000028800
Gene Name histone deacetylase 1
Synonyms HD1, RPD3, MommeD5
MMRRC Submission 038963-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0783 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 129409897-129436506 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129411902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 331 (N331S)
Ref Sequence ENSEMBL: ENSMUSP00000099657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062356] [ENSMUST00000102597]
AlphaFold O09106
Predicted Effect probably benign
Transcript: ENSMUST00000062356
SMART Domains Protein: ENSMUSP00000055637
Gene: ENSMUSG00000047945

DomainStartEndE-ValueType
Pfam:MARCKS 2 48 1.8e-11 PFAM
Pfam:MARCKS 42 200 1.6e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102597
AA Change: N331S

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000099657
Gene: ENSMUSG00000028800
AA Change: N331S

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: ENSMUST00000125718
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145628
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150105
Meta Mutation Damage Score 0.0870 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 92.2%
Validation Efficiency 100% (47/47)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G A 7: 119,893,380 (GRCm39) G1277R probably damaging Het
Abi3bp A G 16: 56,415,601 (GRCm39) probably null Het
Acsm2 G A 7: 119,172,340 (GRCm39) G61D probably damaging Het
Akp3 G A 1: 87,055,593 (GRCm39) G547R unknown Het
Bbs9 T C 9: 22,479,010 (GRCm39) L151S possibly damaging Het
Camk2g T A 14: 20,794,704 (GRCm39) T173S possibly damaging Het
Eif3b T C 5: 140,405,592 (GRCm39) probably benign Het
Eif3i A C 4: 129,485,869 (GRCm39) F319V possibly damaging Het
Eprs1 T C 1: 185,130,655 (GRCm39) L672P probably damaging Het
Fam110d G A 4: 133,979,368 (GRCm39) R37C probably damaging Het
Fras1 C T 5: 96,916,289 (GRCm39) A3441V probably damaging Het
Gigyf2 T A 1: 87,334,883 (GRCm39) M79K probably damaging Het
Hmcn1 C T 1: 150,525,824 (GRCm39) G3300S probably damaging Het
Iars2 T C 1: 185,053,071 (GRCm39) E400G probably damaging Het
Irx2 T C 13: 72,780,769 (GRCm39) probably null Het
Itih4 G A 14: 30,617,380 (GRCm39) E567K possibly damaging Het
Klhl5 T A 5: 65,313,596 (GRCm39) probably benign Het
Klk1b8 G A 7: 43,451,621 (GRCm39) G204E probably damaging Het
Loxhd1 T C 18: 77,517,680 (GRCm39) F1843L possibly damaging Het
Mllt6 T C 11: 97,556,571 (GRCm39) V87A probably damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Nhlrc3 A T 3: 53,369,870 (GRCm39) S34T probably benign Het
Or10q1 T C 19: 13,727,040 (GRCm39) L190P probably damaging Het
Or4c119 A T 2: 88,987,235 (GRCm39) C95S probably benign Het
Or52b3 A G 7: 102,203,646 (GRCm39) I52V probably benign Het
Or52s1 T C 7: 102,861,877 (GRCm39) F259S probably damaging Het
Or5h25 A T 16: 58,930,532 (GRCm39) L147* probably null Het
Or8h9 A G 2: 86,788,906 (GRCm39) C299R probably benign Het
Pcnx4 T C 12: 72,622,252 (GRCm39) W1074R probably damaging Het
Pcsk9 T C 4: 106,307,314 (GRCm39) T310A probably benign Het
Pfas A G 11: 68,891,347 (GRCm39) L250P probably damaging Het
Plk5 T A 10: 80,196,964 (GRCm39) D352E probably benign Het
Ryr3 A G 2: 112,586,672 (GRCm39) probably benign Het
Serinc3 A G 2: 163,478,923 (GRCm39) I68T possibly damaging Het
Sez6l2 A G 7: 126,566,317 (GRCm39) T810A possibly damaging Het
Tmprss7 G A 16: 45,487,969 (GRCm39) Q487* probably null Het
Tnf A G 17: 35,420,650 (GRCm39) I56T probably damaging Het
Ttbk2 A T 2: 120,570,458 (GRCm39) S1163T possibly damaging Het
Ttn G A 2: 76,573,874 (GRCm39) T23927I probably damaging Het
Urb1 G A 16: 90,607,185 (GRCm39) A15V possibly damaging Het
Zfp128 C T 7: 12,624,199 (GRCm39) P189L probably damaging Het
Zfr T C 15: 12,162,268 (GRCm39) V806A probably damaging Het
Other mutations in Hdac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03169:Hdac1 APN 4 129,412,624 (GRCm39) missense probably null 0.08
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
R2175:Hdac1 UTSW 4 129,428,463 (GRCm39) missense probably damaging 1.00
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'- AAGTTCTCAAAGAGACGCTGCCTAC -3'
(R):5'- AAGCTCTTGGCCGCAGAAAGAC -3'

Sequencing Primer
(F):5'- AGACGCTGCCTACAGGAG -3'
(R):5'- CTTGGCCGCAGAAAGACTTTATC -3'
Posted On 2013-10-16