Incidental Mutation 'IGL01075:Hdac6'
ID 53320
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hdac6
Ensembl Gene ENSMUSG00000031161
Gene Name histone deacetylase 6
Synonyms Sfc6, mHDA2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01075
Quality Score
Status
Chromosome X
Chromosomal Location 7796359-7814128 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 7802691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033501] [ENSMUST00000115642] [ENSMUST00000145675]
AlphaFold Q9Z2V5
Predicted Effect probably null
Transcript: ENSMUST00000033501
SMART Domains Protein: ENSMUSP00000033501
Gene: ENSMUSG00000031161

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 null
Transcript: ENSMUST00000115642
SMART Domains Protein: ENSMUSP00000111306
Gene: ENSMUSG00000031161

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 null
Transcript: ENSMUST00000145675
SMART Domains Protein: ENSMUSP00000121653
Gene: ENSMUSG00000031161

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: ENSMUST00000151916
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156127
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 A G 10: 20,862,924 (GRCm39) T700A possibly damaging Het
Cacng5 C T 11: 107,772,531 (GRCm39) V106I probably benign Het
Chd3 T C 11: 69,250,791 (GRCm39) D646G probably damaging Het
Esf1 A G 2: 139,962,665 (GRCm39) V802A probably benign Het
Il1rap A C 16: 26,498,987 (GRCm39) N162T possibly damaging Het
Mpdu1 T C 11: 69,548,151 (GRCm39) T208A probably damaging Het
Mrpl51 T C 6: 125,169,566 (GRCm39) V56A probably benign Het
Myadm A C 7: 3,345,762 (GRCm39) T175P probably damaging Het
Nek1 C A 8: 61,577,166 (GRCm39) T1077K possibly damaging Het
Or5w20 A G 2: 87,727,265 (GRCm39) T249A probably benign Het
Pcnt G A 10: 76,258,738 (GRCm39) Q576* probably null Het
Pramel26 T C 4: 143,538,216 (GRCm39) T252A possibly damaging Het
Tchhl1 A T 3: 93,377,623 (GRCm39) D109V probably damaging Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tns3 G A 11: 8,428,399 (GRCm39) P848S probably benign Het
Ttc4 T C 4: 106,528,845 (GRCm39) I209M probably benign Het
Zfp536 A T 7: 37,267,315 (GRCm39) S700R probably damaging Het
Other mutations in Hdac6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Hdac6 APN X 7,797,568 (GRCm39) missense probably benign 0.01
IGL01102:Hdac6 APN X 7,813,237 (GRCm39) missense probably benign 0.01
IGL01327:Hdac6 APN X 7,798,013 (GRCm39) missense probably benign
IGL01503:Hdac6 APN X 7,798,418 (GRCm39) missense probably damaging 1.00
IGL02061:Hdac6 APN X 7,809,878 (GRCm39) critical splice donor site probably null
R4042:Hdac6 UTSW X 7,797,731 (GRCm39) missense probably benign 0.00
R4043:Hdac6 UTSW X 7,797,731 (GRCm39) missense probably benign 0.00
R5071:Hdac6 UTSW X 7,811,036 (GRCm39) missense probably damaging 1.00
R5072:Hdac6 UTSW X 7,811,036 (GRCm39) missense probably damaging 1.00
R5073:Hdac6 UTSW X 7,811,036 (GRCm39) missense probably damaging 1.00
Z1177:Hdac6 UTSW X 7,804,224 (GRCm39) nonsense probably null
Posted On 2013-06-21