Incidental Mutation 'IGL02702:Hdac3'
ID304163
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hdac3
Ensembl Gene ENSMUSG00000024454
Gene Namehistone deacetylase 3
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02702
Quality Score
Status
Chromosome18
Chromosomal Location37935844-37954988 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 37941094 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 359 (R359L)
Ref Sequence ENSEMBL: ENSMUSP00000037981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043498]
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: 88,838,138 V337I probably benign Het
Adam11 G A 11: 102,777,038 V750I probably benign Het
Alms1 T C 6: 85,599,849 V129A probably benign Het
Cacna1d T A 14: 30,123,533 K560* probably null Het
Cntn1 A G 15: 92,291,601 probably benign Het
Cpne2 T C 8: 94,570,023 V530A probably benign Het
Fbxo21 T C 5: 118,000,510 L507P probably damaging Het
Fndc4 T C 5: 31,293,735 K204R probably damaging Het
Gnrhr G T 5: 86,182,269 N297K possibly damaging Het
Grin2b A G 6: 135,739,132 F729S probably damaging Het
Met T C 6: 17,534,143 S662P possibly damaging Het
Mphosph9 T A 5: 124,259,989 E1081D probably damaging Het
Mycbp2 T G 14: 103,220,124 T1546P probably benign Het
Nlrp9a T A 7: 26,564,956 M767K possibly damaging Het
Olfm5 A G 7: 104,154,357 Y300H probably damaging Het
Olfr911-ps1 T A 9: 38,524,560 V276D probably damaging Het
Pcf11 A T 7: 92,661,618 N178K possibly damaging Het
Polr3a T C 14: 24,470,877 I571M probably benign Het
Ppef2 T A 5: 92,231,819 R557W probably benign Het
Prelid3a T A 18: 67,473,794 D85E probably damaging Het
Rb1cc1 A G 1: 6,240,023 E215G probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Recql4 C T 15: 76,707,285 G501R probably damaging Het
Sema3e T C 5: 14,233,726 probably benign Het
Shisa6 A C 11: 66,219,962 L318V probably damaging Het
Slu7 T C 11: 43,438,892 probably benign Het
Spink12 T C 18: 44,104,769 V38A probably benign Het
Syne2 A G 12: 76,097,924 D1549G probably damaging Het
Tet1 A G 10: 62,879,752 V88A possibly damaging Het
Tmem200a C T 10: 25,993,603 G256D probably damaging Het
Ttn G T 2: 76,884,491 probably benign Het
Ugt2b34 T C 5: 86,892,891 I391V probably benign Het
Zfp292 A T 4: 34,809,415 L1215I probably benign Het
Zfp410 C A 12: 84,325,776 N125K probably damaging Het
Other mutations in Hdac3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Hdac3 APN 18 37954885 missense possibly damaging 0.95
IGL00570:Hdac3 APN 18 37944121 splice site probably benign
IGL01511:Hdac3 APN 18 37952595 missense probably benign 0.16
IGL01559:Hdac3 APN 18 37943672 splice site probably benign
IGL01688:Hdac3 APN 18 37954879 missense possibly damaging 0.53
IGL02529:Hdac3 APN 18 37944132 missense probably benign 0.20
IGL02559:Hdac3 APN 18 37954891 missense probably damaging 1.00
PIT4520001:Hdac3 UTSW 18 37941764 missense probably damaging 1.00
R0173:Hdac3 UTSW 18 37941753 missense probably damaging 0.97
R0325:Hdac3 UTSW 18 37940952 critical splice donor site probably null
R0445:Hdac3 UTSW 18 37943724 missense probably damaging 0.99
R1341:Hdac3 UTSW 18 37954713 missense probably damaging 1.00
R2068:Hdac3 UTSW 18 37943516 missense probably damaging 1.00
R2761:Hdac3 UTSW 18 37945726 missense probably benign 0.19
R3805:Hdac3 UTSW 18 37945692 critical splice donor site probably null
R4467:Hdac3 UTSW 18 37952513 missense probably benign 0.03
R5928:Hdac3 UTSW 18 37941341 intron probably benign
R5929:Hdac3 UTSW 18 37941341 intron probably benign
R6341:Hdac3 UTSW 18 37944164 missense probably damaging 0.99
R6679:Hdac3 UTSW 18 37944933 missense possibly damaging 0.59
R6843:Hdac3 UTSW 18 37941954 missense probably benign
R7262:Hdac3 UTSW 18 37945563 missense probably damaging 0.99
R7559:Hdac3 UTSW 18 37945516 missense possibly damaging 0.94
R7585:Hdac3 UTSW 18 37945355 missense probably damaging 1.00
R7652:Hdac3 UTSW 18 37954919 unclassified probably benign
Z1177:Hdac3 UTSW 18 37945751 missense probably benign
Posted On2015-04-16