Incidental Mutation 'IGL02702:Hdac3'
ID 304163
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hdac3
Ensembl Gene ENSMUSG00000024454
Gene Name histone deacetylase 3
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02702
Quality Score
Status
Chromosome 18
Chromosomal Location 38070024-38088073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 38074147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 359 (R359L)
Ref Sequence ENSEMBL: ENSMUSP00000037981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043498]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000043498
AA Change: R359L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000037981
Gene: ENSMUSG00000024454
AA Change: R359L

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 C T 6: 88,815,120 (GRCm39) V337I probably benign Het
Adam11 G A 11: 102,667,864 (GRCm39) V750I probably benign Het
Alms1 T C 6: 85,576,831 (GRCm39) V129A probably benign Het
Cacna1d T A 14: 29,845,490 (GRCm39) K560* probably null Het
Cntn1 A G 15: 92,189,482 (GRCm39) probably benign Het
Cpne2 T C 8: 95,296,651 (GRCm39) V530A probably benign Het
Fbxo21 T C 5: 118,138,575 (GRCm39) L507P probably damaging Het
Fndc4 T C 5: 31,451,079 (GRCm39) K204R probably damaging Het
Gnrhr G T 5: 86,330,128 (GRCm39) N297K possibly damaging Het
Grin2b A G 6: 135,716,130 (GRCm39) F729S probably damaging Het
Met T C 6: 17,534,142 (GRCm39) S662P possibly damaging Het
Mphosph9 T A 5: 124,398,052 (GRCm39) E1081D probably damaging Het
Mycbp2 T G 14: 103,457,560 (GRCm39) T1546P probably benign Het
Nlrp9a T A 7: 26,264,381 (GRCm39) M767K possibly damaging Het
Olfm5 A G 7: 103,803,564 (GRCm39) Y300H probably damaging Het
Or8b47 T A 9: 38,435,856 (GRCm39) V276D probably damaging Het
Pcf11 A T 7: 92,310,826 (GRCm39) N178K possibly damaging Het
Polr3a T C 14: 24,520,945 (GRCm39) I571M probably benign Het
Ppef2 T A 5: 92,379,678 (GRCm39) R557W probably benign Het
Prelid3a T A 18: 67,606,864 (GRCm39) D85E probably damaging Het
Rb1cc1 A G 1: 6,310,247 (GRCm39) E215G probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Recql4 C T 15: 76,591,485 (GRCm39) G501R probably damaging Het
Sema3e T C 5: 14,283,740 (GRCm39) probably benign Het
Shisa6 A C 11: 66,110,788 (GRCm39) L318V probably damaging Het
Slu7 T C 11: 43,329,719 (GRCm39) probably benign Het
Spink12 T C 18: 44,237,836 (GRCm39) V38A probably benign Het
Syne2 A G 12: 76,144,698 (GRCm39) D1549G probably damaging Het
Tet1 A G 10: 62,715,531 (GRCm39) V88A possibly damaging Het
Tmem200a C T 10: 25,869,501 (GRCm39) G256D probably damaging Het
Ttn G T 2: 76,714,835 (GRCm39) probably benign Het
Ugt2b34 T C 5: 87,040,750 (GRCm39) I391V probably benign Het
Zfp292 A T 4: 34,809,415 (GRCm39) L1215I probably benign Het
Zfp410 C A 12: 84,372,550 (GRCm39) N125K probably damaging 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
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
R0325:Hdac3 UTSW 18 38,074,005 (GRCm39) critical splice donor site probably null
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
Posted On 2015-04-16