Incidental Mutation 'R0325:Hdac3'
ID 25810
Institutional Source Beutler Lab
Gene Symbol Hdac3
Ensembl Gene ENSMUSG00000024454
Gene Name histone deacetylase 3
Synonyms
MMRRC Submission 038535-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0325 (G1)
Quality Score 222
Status Not validated
Chromosome 18
Chromosomal Location 38070024-38088073 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 38074005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000037981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043498] [ENSMUST00000043498]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000043498
SMART Domains Protein: ENSMUSP00000037981
Gene: ENSMUSG00000024454

DomainStartEndE-ValueType
Pfam:Hist_deacetyl 11 315 1.2e-82 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000043498
SMART Domains Protein: ENSMUSP00000037981
Gene: ENSMUSG00000024454

DomainStartEndE-ValueType
Pfam:Hist_deacetyl 11 315 1.2e-82 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144471
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153945
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 92.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family. It has histone deacetylase activity and represses transcription when tethered to a promoter. It may participate in the regulation of transcription through its binding with the zinc-finger transcription factor YY1. This protein can also down-regulate p53 function and thus modulate cell growth and apoptosis. This gene is regarded as a potential tumor suppressor gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Disruption of this gene results in embryonic death at or around the time of gastrulation. Structural and functional abnormalities are also reported in mitochondria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 T C 4: 144,282,081 (GRCm39) Y237C probably damaging Het
Adcyap1 A G 17: 93,510,260 (GRCm39) D96G probably benign Het
Adgrv1 C T 13: 81,688,134 (GRCm39) V1749M probably damaging Het
Adnp2 A T 18: 80,173,868 (GRCm39) N180K probably benign Het
Ahdc1 G T 4: 132,790,030 (GRCm39) A424S unknown Het
Alpk3 G A 7: 80,717,701 (GRCm39) R86H possibly damaging Het
Atf7ip A C 6: 136,537,987 (GRCm39) T49P possibly damaging Het
Atp7b G A 8: 22,518,467 (GRCm39) L124F probably benign Het
Bub1 A T 2: 127,643,314 (GRCm39) L1010* probably null Het
Cd300c C A 11: 114,850,411 (GRCm39) E131* probably null Het
Cep135 A G 5: 76,763,590 (GRCm39) K527E probably damaging Het
Cfd G T 10: 79,727,592 (GRCm39) E89* probably null Het
Crb1 A C 1: 139,168,904 (GRCm39) C871W probably damaging Het
D6Ertd527e A T 6: 87,088,277 (GRCm39) S147C unknown Het
Ddx60 A T 8: 62,436,889 (GRCm39) E946D probably benign Het
Dmrt1 G A 19: 25,523,371 (GRCm39) E241K probably benign Het
Dnah11 C G 12: 117,976,074 (GRCm39) V2782L probably benign Het
Dzip1 T C 14: 119,146,969 (GRCm39) I313M probably damaging Het
Egln3 T C 12: 54,250,298 (GRCm39) E17G probably benign Het
Eif3d A G 15: 77,852,420 (GRCm39) V42A probably damaging Het
Elapor1 A G 3: 108,368,567 (GRCm39) L808P probably damaging Het
Eogt C A 6: 97,090,916 (GRCm39) G408W probably damaging Het
Fip1l1 T A 5: 74,756,503 (GRCm39) N498K probably damaging Het
Fmn2 T A 1: 174,437,520 (GRCm39) probably null Het
Fndc3b T C 3: 27,521,579 (GRCm39) E532G probably damaging Het
Gabrb3 T C 7: 57,415,278 (GRCm39) L116P probably damaging Het
Galnt6 A T 15: 100,591,352 (GRCm39) probably null Het
Glmp G A 3: 88,232,391 (GRCm39) M1I probably null Het
Gm5478 T C 15: 101,552,761 (GRCm39) D79G probably damaging Het
Gnb1 T G 4: 155,636,140 (GRCm39) D153E probably benign Het
Grik2 T C 10: 49,116,821 (GRCm39) I86V probably damaging Het
Hdgfl2 G A 17: 56,406,181 (GRCm39) R523H possibly damaging Het
Ifngr1 T A 10: 19,473,180 (GRCm39) N43K probably damaging Het
Iqgap1 A G 7: 80,401,678 (GRCm39) W476R probably benign Het
Jag1 A G 2: 136,937,365 (GRCm39) probably null Het
Kars1 T C 8: 112,734,848 (GRCm39) D46G probably benign Het
Kcnd2 A G 6: 21,216,682 (GRCm39) I129V probably damaging Het
Lama3 A C 18: 12,615,183 (GRCm39) D1369A probably damaging Het
Lars1 A T 18: 42,383,967 (GRCm39) V76E possibly damaging Het
Lgals9 T C 11: 78,854,274 (GRCm39) I337V probably damaging Het
Lrp1b T C 2: 40,741,723 (GRCm39) D3068G probably damaging Het
Med12l A G 3: 58,984,480 (GRCm39) T462A possibly damaging Het
Megf9 T A 4: 70,374,178 (GRCm39) D286V probably damaging Het
Meox1 T A 11: 101,770,227 (GRCm39) S167C probably damaging Het
Mier2 C T 10: 79,378,430 (GRCm39) probably null Het
Mrps2 C A 2: 28,359,791 (GRCm39) T216K probably damaging Het
Mto1 A T 9: 78,360,286 (GRCm39) D258V probably damaging Het
Mug1 A T 6: 121,826,801 (GRCm39) H208L probably benign Het
Myo15b T A 11: 115,775,091 (GRCm39) I751N probably damaging Het
Napg C T 18: 63,120,034 (GRCm39) R149C probably damaging Het
Ndrg4 T A 8: 96,437,563 (GRCm39) M17K probably damaging Het
Nfrkb T G 9: 31,325,476 (GRCm39) M973R probably benign Het
Nxph4 C T 10: 127,362,780 (GRCm39) R37H probably damaging Het
Oas1e A G 5: 120,933,460 (GRCm39) I35T probably damaging Het
Oc90 C T 15: 65,769,514 (GRCm39) probably null Het
Or4b12 A T 2: 90,095,880 (GRCm39) M298K probably null Het
Or52d3 A T 7: 104,229,567 (GRCm39) D238V probably damaging Het
Or8j3 G A 2: 86,029,055 (GRCm39) L14F possibly damaging Het
Or8k30 A T 2: 86,339,549 (GRCm39) T249S probably benign Het
Or9a7 A T 6: 40,521,057 (GRCm39) N285K possibly damaging Het
Papola T A 12: 105,773,452 (GRCm39) I157N probably damaging Het
Pcyox1l G C 18: 61,830,964 (GRCm39) P303A possibly damaging Het
Pkdrej T C 15: 85,703,752 (GRCm39) N728S probably benign Het
Pkp4 A G 2: 59,148,873 (GRCm39) D542G probably damaging Het
Pla2g5 C T 4: 138,527,967 (GRCm39) D100N probably benign Het
Poln C T 5: 34,307,108 (GRCm39) R31H probably benign Het
Ppp3ca G A 3: 136,640,900 (GRCm39) A484T probably benign Het
Prag1 A G 8: 36,570,958 (GRCm39) T514A probably benign Het
Pramel28 A T 4: 143,693,310 (GRCm39) V56E probably damaging Het
Prex2 G A 1: 11,270,281 (GRCm39) probably null Het
Prrc2b G T 2: 32,089,103 (GRCm39) W403L probably damaging Het
Pter A T 2: 13,005,748 (GRCm39) K307M probably damaging Het
Ptpn5 G A 7: 46,740,506 (GRCm39) S99L probably benign Het
Ptpn5 A C 7: 46,740,507 (GRCm39) S99A probably benign Het
Rpap1 A C 2: 119,602,321 (GRCm39) H674Q probably benign Het
Rph3a A T 5: 121,081,127 (GRCm39) D623E probably benign Het
Sdr9c7 G T 10: 127,734,588 (GRCm39) E25D probably benign Het
Septin9 T G 11: 117,247,458 (GRCm39) V479G probably damaging Het
Sgo2a A G 1: 58,055,856 (GRCm39) D680G probably benign Het
Sgo2b A T 8: 64,381,410 (GRCm39) I474N probably benign Het
Sgsm1 A T 5: 113,436,701 (GRCm39) I43N probably damaging Het
Shprh G A 10: 11,045,853 (GRCm39) M891I probably benign Het
Skic2 A T 17: 35,063,791 (GRCm39) Y551N possibly damaging Het
Slc12a9 A G 5: 137,321,108 (GRCm39) M469T probably damaging Het
Slc4a2 A T 5: 24,640,941 (GRCm39) I747F probably damaging Het
Slc7a6 T A 8: 106,921,149 (GRCm39) N373K probably damaging Het
Slc7a6os T C 8: 106,927,688 (GRCm39) D296G probably benign Het
Sncaip A G 18: 53,038,881 (GRCm39) T120A probably damaging Het
Sorcs1 G C 19: 50,301,480 (GRCm39) probably null Het
Spata16 A G 3: 26,721,605 (GRCm39) E42G probably damaging Het
Spata31e2 G T 1: 26,724,347 (GRCm39) Q278K possibly damaging Het
Syne2 A T 12: 76,009,415 (GRCm39) M2440L probably benign Het
Taf7l2 T C 10: 115,949,474 (GRCm39) I17M probably damaging Het
Tead2 A G 7: 44,875,179 (GRCm39) E232G probably damaging Het
Tmf1 T G 6: 97,153,465 (GRCm39) T203P possibly damaging Het
Trrap C A 5: 144,753,205 (GRCm39) H1843Q probably benign Het
Unc79 C A 12: 103,137,903 (GRCm39) Q2314K probably damaging Het
Unc80 G T 1: 66,550,040 (GRCm39) G766V probably damaging Het
Vmn1r217 A G 13: 23,298,764 (GRCm39) L46P probably damaging Het
Vmn2r80 A T 10: 78,984,773 (GRCm39) I42F possibly damaging Het
Vwa5a T C 9: 38,639,961 (GRCm39) V403A probably damaging Het
Zfp42 T C 8: 43,748,988 (GRCm39) E171G probably damaging Het
Zfp64 A T 2: 168,767,960 (GRCm39) S551T probably benign Het
Other mutations in Hdac3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Hdac3 APN 18 38,087,938 (GRCm39) missense possibly damaging 0.95
IGL00570:Hdac3 APN 18 38,077,174 (GRCm39) splice site probably benign
IGL01511:Hdac3 APN 18 38,085,648 (GRCm39) missense probably benign 0.16
IGL01559:Hdac3 APN 18 38,076,725 (GRCm39) splice site probably benign
IGL01688:Hdac3 APN 18 38,087,932 (GRCm39) missense possibly damaging 0.53
IGL02529:Hdac3 APN 18 38,077,185 (GRCm39) missense probably benign 0.20
IGL02559:Hdac3 APN 18 38,087,944 (GRCm39) missense probably damaging 1.00
IGL02702:Hdac3 APN 18 38,074,147 (GRCm39) missense probably benign 0.00
PIT4520001:Hdac3 UTSW 18 38,074,817 (GRCm39) missense probably damaging 1.00
R0173:Hdac3 UTSW 18 38,074,806 (GRCm39) missense probably damaging 0.97
R0445:Hdac3 UTSW 18 38,076,777 (GRCm39) missense probably damaging 0.99
R1341:Hdac3 UTSW 18 38,087,766 (GRCm39) missense probably damaging 1.00
R2068:Hdac3 UTSW 18 38,076,569 (GRCm39) missense probably damaging 1.00
R2761:Hdac3 UTSW 18 38,078,779 (GRCm39) missense probably benign 0.19
R3805:Hdac3 UTSW 18 38,078,745 (GRCm39) critical splice donor site probably null
R4467:Hdac3 UTSW 18 38,085,566 (GRCm39) missense probably benign 0.03
R5928:Hdac3 UTSW 18 38,074,394 (GRCm39) intron probably benign
R5929:Hdac3 UTSW 18 38,074,394 (GRCm39) intron probably benign
R6341:Hdac3 UTSW 18 38,077,217 (GRCm39) missense probably damaging 0.99
R6679:Hdac3 UTSW 18 38,077,986 (GRCm39) missense possibly damaging 0.59
R6843:Hdac3 UTSW 18 38,075,007 (GRCm39) missense probably benign
R7262:Hdac3 UTSW 18 38,078,616 (GRCm39) missense probably damaging 0.99
R7559:Hdac3 UTSW 18 38,078,569 (GRCm39) missense possibly damaging 0.94
R7585:Hdac3 UTSW 18 38,078,408 (GRCm39) missense probably damaging 1.00
R7652:Hdac3 UTSW 18 38,087,972 (GRCm39) unclassified probably benign
R8434:Hdac3 UTSW 18 38,074,475 (GRCm39) missense possibly damaging 0.68
R9400:Hdac3 UTSW 18 38,070,677 (GRCm39) missense possibly damaging 0.71
Z1177:Hdac3 UTSW 18 38,078,804 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CACTGACACAGGCAAGTGTAACTCC -3'
(R):5'- ACCAGATCCGCCAGACAATCTTTG -3'

Sequencing Primer
(F):5'- gaaacccgaggcaggag -3'
(R):5'- CGCCAGACAATCTTTGAAAACTTG -3'
Posted On 2013-04-16