Incidental Mutation 'IGL01503:Hdac6'
List |< first << previous [record 16 of 40] next >> last >|
ID88944
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hdac6
Ensembl Gene ENSMUSG00000031161
Gene Namehistone deacetylase 6
SynonymsmHDA2, Sfc6
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01503
Quality Score
Status
ChromosomeX
Chromosomal Location7930120-7947889 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 7932179 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 798 (L798P)
Ref Sequence ENSEMBL: ENSMUSP00000121653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033500] [ENSMUST00000033501] [ENSMUST00000115642] [ENSMUST00000145675]
Predicted Effect probably benign
Transcript: ENSMUST00000033500
SMART Domains Protein: ENSMUSP00000033500
Gene: ENSMUSG00000031160

DomainStartEndE-ValueType
RAS 39 202 6.75e-44 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000033501
AA Change: L798P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033501
Gene: ENSMUSG00000031161
AA Change: L798P

DomainStartEndE-ValueType
Pfam:Hist_deacetyl 94 402 3.4e-90 PFAM
low complexity region 438 460 N/A INTRINSIC
Pfam:Hist_deacetyl 488 798 5.7e-101 PFAM
low complexity region 801 812 N/A INTRINSIC
low complexity region 1007 1017 N/A INTRINSIC
ZnF_UBP 1066 1115 5.7e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115642
AA Change: L798P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111306
Gene: ENSMUSG00000031161
AA Change: L798P

DomainStartEndE-ValueType
Pfam:Hist_deacetyl 94 402 2.7e-87 PFAM
low complexity region 438 460 N/A INTRINSIC
Pfam:Hist_deacetyl 487 798 9.1e-91 PFAM
low complexity region 801 812 N/A INTRINSIC
low complexity region 1007 1017 N/A INTRINSIC
ZnF_UBP 1066 1115 5.7e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137499
Predicted Effect probably damaging
Transcript: ENSMUST00000145675
AA Change: L798P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121653
Gene: ENSMUSG00000031161
AA Change: L798P

DomainStartEndE-ValueType
Pfam:Hist_deacetyl 94 402 2.6e-90 PFAM
low complexity region 438 460 N/A INTRINSIC
Pfam:Hist_deacetyl 488 798 4.3e-101 PFAM
low complexity region 801 812 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153788
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 class II of the histone deacetylase/acuc/apha family. It contains an internal duplication of two catalytic domains which appear to function independently of each other. This protein possesses histone deacetylase activity and represses transcription. [provided by RefSeq, Jul 2008]
PHENOTYPE: Although mice homozygous for a knock-out allele exhibit global tubulin hyperacetylation, they are viable and fertile and display only a moderately impaired immune response and a minor increase in cancellous bone mineral density. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T A 16: 89,174,869 Y26* probably null Het
Arpc1a T C 5: 145,096,154 V91A probably damaging Het
Atp2a1 T A 7: 126,448,578 I687F probably damaging Het
B3gnt5 A C 16: 19,769,781 Y250S probably damaging Het
Brip1 A G 11: 86,061,877 V1026A probably benign Het
C1s2 T C 6: 124,625,653 D527G probably damaging Het
Chrna5 T A 9: 54,998,171 probably benign Het
Cltc C A 11: 86,695,700 probably benign Het
Dgkh T G 14: 78,616,270 I439L possibly damaging Het
Dnajc16 G A 4: 141,763,697 T714I possibly damaging Het
Fam13a A T 6: 58,956,080 I349N probably damaging Het
Fig4 C T 10: 41,256,518 D431N probably benign Het
Gabra4 A T 5: 71,641,086 N183K possibly damaging Het
Ggt5 C T 10: 75,610,110 probably benign Het
Gm436 T A 4: 144,674,567 I116F probably damaging Het
Hectd4 T C 5: 121,318,651 V2030A probably benign Het
Hecw2 A G 1: 53,826,961 Y1514H probably damaging Het
Hmcn1 T C 1: 150,605,072 D4451G probably benign Het
Krtcap3 T C 5: 31,251,823 probably benign Het
Ltn1 A T 16: 87,420,807 probably benign Het
Mapkapk2 T C 1: 131,058,762 M1V probably null Het
Mical3 A T 6: 120,958,576 I1663N probably benign Het
Mvp G T 7: 127,001,961 probably benign Het
Myo5c A G 9: 75,263,042 I485V probably damaging Het
N4bp2 T A 5: 65,803,547 C520* probably null Het
Nos2 A G 11: 78,945,863 probably benign Het
Ogdh G A 11: 6,355,069 V925M probably damaging Het
Pde2a T A 7: 101,501,936 probably benign Het
Plpp6 A G 19: 28,964,879 *293W probably null Het
Pole T A 5: 110,303,884 I864K probably damaging Het
Rexo4 A T 2: 26,960,633 I239N probably benign Het
Scn1a T A 2: 66,322,343 I748F probably damaging Het
Sfmbt2 A T 2: 10,579,354 R841* probably null Het
Sh3bp5l A G 11: 58,338,001 N100S probably damaging Het
Spic T A 10: 88,675,761 D211V probably damaging Het
Stab2 A G 10: 86,940,613 probably benign Het
Tshr A G 12: 91,511,934 Y83C probably damaging Het
Vsir A G 10: 60,368,594 E172G probably damaging Het
Wwp2 T C 8: 107,549,781 S508P probably damaging Het
Other mutations in Hdac6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Hdac6 APN X 7931329 missense probably benign 0.01
IGL01075:Hdac6 APN X 7936452 critical splice acceptor site probably null
IGL01102:Hdac6 APN X 7946998 missense probably benign 0.01
IGL01327:Hdac6 APN X 7931774 missense probably benign
IGL02061:Hdac6 APN X 7943639 critical splice donor site probably null
R4042:Hdac6 UTSW X 7931492 missense probably benign 0.00
R4043:Hdac6 UTSW X 7931492 missense probably benign 0.00
R5071:Hdac6 UTSW X 7944797 missense probably damaging 1.00
R5072:Hdac6 UTSW X 7944797 missense probably damaging 1.00
R5073:Hdac6 UTSW X 7944797 missense probably damaging 1.00
Z1177:Hdac6 UTSW X 7937985 nonsense probably null
Posted On2013-12-03