Incidental Mutation 'IGL02559:Hdac3'
ID298602
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 #IGL02559
Quality Score
Status
Chromosome18
Chromosomal Location37935844-37954988 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 37954891 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 8 (F8S)
Ref Sequence ENSEMBL: ENSMUSP00000037981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043437] [ENSMUST00000043498] [ENSMUST00000070709] [ENSMUST00000091932] [ENSMUST00000163128] [ENSMUST00000163591] [ENSMUST00000168056] [ENSMUST00000169360] [ENSMUST00000169498] [ENSMUST00000176104] [ENSMUST00000176902] [ENSMUST00000177058]
Predicted Effect probably benign
Transcript: ENSMUST00000043437
SMART Domains Protein: ENSMUSP00000047878
Gene: ENSMUSG00000038524

DomainStartEndE-ValueType
Pfam:FCH 21 100 1.6e-19 PFAM
coiled coil region 188 209 N/A INTRINSIC
low complexity region 346 357 N/A INTRINSIC
SH3 469 526 1.34e-8 SMART
SH3 547 606 1.94e-14 SMART
low complexity region 622 634 N/A INTRINSIC
low complexity region 657 686 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000043498
AA Change: F8S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000037981
Gene: ENSMUSG00000024454
AA Change: F8S

DomainStartEndE-ValueType
Pfam:Hist_deacetyl 11 315 1.2e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000070709
SMART Domains Protein: ENSMUSP00000070280
Gene: ENSMUSG00000044024

DomainStartEndE-ValueType
Pfam:RELT 16 64 1.2e-22 PFAM
low complexity region 194 212 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000091932
SMART Domains Protein: ENSMUSP00000089552
Gene: ENSMUSG00000044024

DomainStartEndE-ValueType
Pfam:RELT 16 64 8.3e-23 PFAM
low complexity region 194 212 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153945
Predicted Effect probably benign
Transcript: ENSMUST00000163128
SMART Domains Protein: ENSMUSP00000127234
Gene: ENSMUSG00000044024

DomainStartEndE-ValueType
Pfam:RELT 16 64 5.2e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163591
SMART Domains Protein: ENSMUSP00000129299
Gene: ENSMUSG00000044024

DomainStartEndE-ValueType
low complexity region 103 121 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165643
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166531
Predicted Effect probably benign
Transcript: ENSMUST00000168056
SMART Domains Protein: ENSMUSP00000130051
Gene: ENSMUSG00000044024

DomainStartEndE-ValueType
Pfam:RELT 16 64 1.9e-23 PFAM
low complexity region 104 116 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169360
SMART Domains Protein: ENSMUSP00000129880
Gene: ENSMUSG00000044024

DomainStartEndE-ValueType
Pfam:RELT 16 64 4.6e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169498
SMART Domains Protein: ENSMUSP00000128949
Gene: ENSMUSG00000044024

DomainStartEndE-ValueType
low complexity region 103 121 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176104
SMART Domains Protein: ENSMUSP00000135556
Gene: ENSMUSG00000044024

DomainStartEndE-ValueType
Pfam:RELT 16 60 3.3e-22 PFAM
low complexity region 194 212 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176902
SMART Domains Protein: ENSMUSP00000135176
Gene: ENSMUSG00000044024

DomainStartEndE-ValueType
low complexity region 103 121 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177058
SMART Domains Protein: ENSMUSP00000135615
Gene: ENSMUSG00000044024

DomainStartEndE-ValueType
Pfam:RELT 16 64 1.2e-22 PFAM
low complexity region 194 212 N/A INTRINSIC
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,687,070 Q1004* probably null Het
Bahcc1 A G 11: 120,285,172 D1914G probably damaging Het
Bcl11b A T 12: 107,915,394 probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Col24a1 A T 3: 145,314,173 I102F probably benign Het
Col7a1 C T 9: 108,973,216 R2063C unknown Het
Ddo T A 10: 40,647,521 L169Q probably damaging Het
Defb4 G T 8: 19,201,297 C60F probably damaging Het
Dock9 A T 14: 121,625,147 probably benign Het
Dysf A T 6: 84,067,446 probably benign Het
Fasn G A 11: 120,809,066 A2253V possibly damaging Het
Fbxw26 T C 9: 109,722,164 D355G probably benign Het
Gak C T 5: 108,584,232 E797K probably null Het
Gm10654 T C 8: 70,932,130 noncoding transcript Het
Gnas T C 2: 174,341,936 probably benign Het
Hist1h2bj T A 13: 22,043,363 V45E possibly damaging Het
Hrh4 T C 18: 13,007,244 probably null Het
Klhl1 A G 14: 96,151,960 V586A possibly damaging Het
Lct T C 1: 128,294,266 N1512S probably damaging Het
Mmp28 G T 11: 83,447,740 N128K probably benign Het
Mndal T C 1: 173,872,920 T162A probably benign Het
Myh3 A G 11: 67,101,095 E1822G possibly damaging Het
Mylpf A G 7: 127,214,143 Y133C probably damaging Het
Nup210l G A 3: 90,159,953 A767T probably benign Het
Olfr1404 T C 1: 173,216,521 V290A probably damaging Het
Olfr221 A G 14: 52,036,007 Y35H probably damaging Het
Olfr666 T A 7: 104,892,954 R225W probably benign Het
Paics A G 5: 76,964,604 I312V possibly damaging Het
Pkdrej G T 15: 85,817,848 Q1296K probably benign Het
Ppil2 T C 16: 17,109,651 K26E possibly damaging Het
Rufy1 A G 11: 50,420,483 F170L probably damaging Het
Shcbp1 T A 8: 4,749,305 E93V probably damaging Het
Slamf1 T A 1: 171,767,258 I11K possibly damaging Het
Slc5a5 C T 8: 70,890,271 G215D probably damaging Het
Slco1a1 A T 6: 141,921,788 V473D probably benign Het
Slit1 A G 19: 41,721,085 V123A probably benign Het
Srgap2 A C 1: 131,524,936 probably null Het
Stk32c T C 7: 139,120,690 M208V probably benign Het
Syt15 T C 14: 34,221,803 V103A probably benign Het
Tacc2 T A 7: 130,759,267 L456Q probably damaging Het
Tanc1 A G 2: 59,724,654 probably benign Het
Tepsin G T 11: 120,096,905 D62E probably benign Het
Thap3 T C 4: 151,983,687 D106G probably benign Het
Ttn T C 2: 76,786,217 D14818G probably damaging Het
Txndc2 T C 17: 65,639,590 N39S possibly damaging Het
Ubxn11 A G 4: 134,124,943 E200G probably damaging Het
Vmn2r11 T G 5: 109,052,180 Q469P probably damaging Het
Yipf2 T C 9: 21,592,186 T22A 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
IGL02702:Hdac3 APN 18 37941094 missense probably benign 0.00
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
Posted On2015-04-16