Incidental Mutation 'R6843:Hdac1'
ID 534614
Institutional Source Beutler Lab
Gene Symbol Hdac1
Ensembl Gene ENSMUSG00000028800
Gene Name histone deacetylase 1
Synonyms HD1, RPD3, MommeD5
MMRRC Submission 044949-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6843 (G1)
Quality Score 202.009
Status Not validated
Chromosome 4
Chromosomal Location 129409897-129436506 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129436383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 14 (Y14H)
Ref Sequence ENSEMBL: ENSMUSP00000099657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102597]
AlphaFold O09106
Predicted Effect probably damaging
Transcript: ENSMUST00000102597
AA Change: Y14H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099657
Gene: ENSMUSG00000028800
AA Change: Y14H

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,615,360 (GRCm39) Q78L probably benign Het
Akr1c21 A G 13: 4,625,213 (GRCm39) H48R probably damaging Het
Anks1b T A 10: 90,784,460 (GRCm39) S1143T probably damaging Het
Apip T G 2: 102,922,834 (GRCm39) F217L probably benign Het
Ash1l T A 3: 88,892,695 (GRCm39) Y1525N probably damaging Het
Bcl2l13 G A 6: 120,825,578 (GRCm39) probably null Het
Cep85 C G 4: 133,883,167 (GRCm39) A241P probably benign Het
Clk4 T G 11: 51,167,076 (GRCm39) probably null Het
Cnr2 C T 4: 135,644,900 (GRCm39) P326L probably benign Het
Cryaa A G 17: 31,897,147 (GRCm39) D58G possibly damaging Het
Crybg3 G A 16: 59,380,159 (GRCm39) T365M probably benign Het
Csmd2 A G 4: 128,357,587 (GRCm39) N1683D probably benign Het
Dbx2 T G 15: 95,552,340 (GRCm39) I102L possibly damaging Het
Dll4 A T 2: 119,156,475 (GRCm39) probably benign Het
Epb42 T A 2: 120,858,166 (GRCm39) Y264F possibly damaging Het
Exoc3l T A 8: 106,016,729 (GRCm39) H695L probably benign Het
Fhip1a G A 3: 85,580,352 (GRCm39) P618S probably damaging Het
Ghsr A C 3: 27,426,676 (GRCm39) D244A probably benign Het
Gm9195 A G 14: 72,678,651 (GRCm39) Y2268H possibly damaging Het
Hdac3 A T 18: 38,075,007 (GRCm39) Y282N probably benign Het
Heg1 T A 16: 33,539,896 (GRCm39) N285K probably benign Het
Igkv4-90 A G 6: 68,784,670 (GRCm39) F8S possibly damaging Het
Map2k1 A T 9: 64,094,973 (GRCm39) D336E probably damaging Het
Map4k2 A T 19: 6,403,477 (GRCm39) I796F probably damaging Het
Mapk13 T A 17: 28,994,427 (GRCm39) probably null Het
Mprip A G 11: 59,650,554 (GRCm39) I1419M possibly damaging Het
Nrap T C 19: 56,368,651 (GRCm39) E255G probably damaging Het
Oprl1 A G 2: 181,357,547 (GRCm39) E11G probably damaging Het
Or1i2 T C 10: 78,447,891 (GRCm39) N195D probably damaging Het
Or4f14 T C 2: 111,743,260 (GRCm39) N5S probably damaging Het
Or52b3 A G 7: 102,203,928 (GRCm39) I146V probably benign Het
Or5b99 G T 19: 12,976,362 (GRCm39) C4F probably benign Het
Or6c209 A G 10: 129,483,048 (GRCm39) D17G possibly damaging Het
Palmd T A 3: 116,717,864 (GRCm39) D211V probably damaging Het
Pcdhga11 A G 18: 37,889,378 (GRCm39) N129D probably damaging Het
Plekha6 T A 1: 133,202,616 (GRCm39) M359K probably damaging Het
Plekha7 G T 7: 115,742,555 (GRCm39) H756Q probably benign Het
Ppfibp2 C T 7: 107,326,938 (GRCm39) P441S probably benign Het
Ptprk T C 10: 28,467,978 (GRCm39) I1373T possibly damaging Het
Serpinb9g G T 13: 33,676,900 (GRCm39) L227F probably damaging Het
Snapc4 C A 2: 26,263,611 (GRCm39) A11S probably benign Het
Sqor T C 2: 122,626,900 (GRCm39) V7A probably benign Het
Sqor G T 2: 122,651,215 (GRCm39) G437V probably damaging Het
Srrm3 T C 5: 135,881,135 (GRCm39) V145A probably benign Het
Stx1b G A 7: 127,414,151 (GRCm39) Q72* probably null Het
Syt7 A G 19: 10,399,135 (GRCm39) D77G probably damaging Het
Tvp23a G A 16: 10,264,884 (GRCm39) A9V probably benign Het
Vmn1r66 T A 7: 10,008,692 (GRCm39) I114F probably damaging Het
Vmn2r80 C A 10: 79,005,502 (GRCm39) Q380K probably benign Het
Xdh C T 17: 74,230,125 (GRCm39) E269K probably damaging Het
Zfp932 T C 5: 110,156,581 (GRCm39) M92T probably benign 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
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
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'- CCAACTTCAGGTCGGATTCC -3'
(R):5'- CTGTGCGGCTATAGGTGATC -3'

Sequencing Primer
(F):5'- GGGATTACCGCAGACTACC -3'
(R):5'- GGCTATAGGTGATCCCGGG -3'
Posted On 2018-09-12