Incidental Mutation 'R4042:Hdac6'
ID 315797
Institutional Source Beutler Lab
Gene Symbol Hdac6
Ensembl Gene ENSMUSG00000031161
Gene Name histone deacetylase 6
Synonyms Sfc6, mHDA2
MMRRC Submission 040851-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4042 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 7796359-7814128 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 7797731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 993 (T993A)
Ref Sequence ENSEMBL: ENSMUSP00000121653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033500] [ENSMUST00000033501] [ENSMUST00000115642] [ENSMUST00000145675]
AlphaFold Q9Z2V5
Predicted Effect probably benign
Transcript: ENSMUST00000033500
SMART Domains Protein: ENSMUSP00000033500
Gene: ENSMUSG00000031160

DomainStartEndE-ValueType
RAS 39 202 6.75e-44 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000033501
AA Change: T993A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000033501
Gene: ENSMUSG00000031161
AA Change: T993A

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 benign
Transcript: ENSMUST00000115642
AA Change: T993A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000111306
Gene: ENSMUSG00000031161
AA Change: T993A

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 benign
Transcript: ENSMUST00000145675
AA Change: T993A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000121653
Gene: ENSMUSG00000031161
AA Change: T993A

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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts10 A G 17: 33,768,514 (GRCm39) H864R possibly damaging Het
Akap6 A T 12: 53,186,162 (GRCm39) probably null Het
Alox5 A G 6: 116,437,979 (GRCm39) S3P possibly damaging Het
Bcl2l2 G A 14: 55,122,091 (GRCm39) E85K possibly damaging Het
Chd6 A T 2: 160,830,253 (GRCm39) I1014N probably damaging Het
Cog1 A T 11: 113,551,836 (GRCm39) Q156L probably damaging Het
Col28a1 G A 6: 8,014,678 (GRCm39) S909F probably damaging Het
Csmd3 C T 15: 47,477,480 (GRCm39) G3339D probably damaging Het
Cst11 A G 2: 148,613,200 (GRCm39) S42P probably benign Het
Cyp2d10 C T 15: 82,290,269 (GRCm39) R67H probably benign Het
Fsip2 G T 2: 82,813,896 (GRCm39) R3405L probably benign Het
H2-Ab1 T C 17: 34,483,834 (GRCm39) V65A probably benign Het
Insrr T A 3: 87,721,134 (GRCm39) M1095K probably damaging Het
Itih4 A T 14: 30,616,995 (GRCm39) N517I probably damaging Het
Krt10 C T 11: 99,277,819 (GRCm39) probably null Het
Mettl16 T A 11: 74,683,118 (GRCm39) F187I probably damaging Het
Miga2 T C 2: 30,257,738 (GRCm39) I12T possibly damaging Het
Muc5b T C 7: 141,418,624 (GRCm39) Y3857H possibly damaging Het
Ncoa1 A G 12: 4,317,871 (GRCm39) S165P probably damaging Het
Or5bb10 A T 19: 12,206,676 (GRCm39) I83N probably benign Het
Otol1 A G 3: 69,935,112 (GRCm39) D368G probably damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Plxnb1 A G 9: 108,934,241 (GRCm39) D823G probably benign Het
Ppme1 A G 7: 99,990,272 (GRCm39) S226P probably damaging Het
Ppp4r3c1 A G X: 88,975,909 (GRCm39) F96S probably damaging Het
Prss40 G T 1: 34,599,960 (GRCm39) S9* probably null Het
Prune2 T C 19: 16,981,190 (GRCm39) probably null Het
Radx C T X: 138,407,752 (GRCm39) S364L probably damaging Homo
Rgl2 C T 17: 34,156,236 (GRCm39) R775W probably damaging Het
Rpp40 A G 13: 36,082,549 (GRCm39) C275R probably benign Het
Rrm2 T C 12: 24,761,450 (GRCm39) Y162H probably benign Het
Spata6l A T 19: 28,923,183 (GRCm39) C80S possibly damaging Het
Syne1 T C 10: 4,991,584 (GRCm39) M8377V probably benign Het
Uchl4 A C 9: 64,142,839 (GRCm39) I107L probably benign Het
Ush1c T C 7: 45,870,952 (GRCm39) E276G probably damaging Het
Usp34 C T 11: 23,439,033 (GRCm39) P3532S possibly damaging Het
Vcan T A 13: 89,840,662 (GRCm39) L1627F probably benign Het
Ythdc1 T C 5: 86,964,383 (GRCm39) I76T probably benign Het
Other mutations in Hdac6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Hdac6 APN X 7,797,568 (GRCm39) missense probably benign 0.01
IGL01075:Hdac6 APN X 7,802,691 (GRCm39) critical splice acceptor site probably null
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
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
Predicted Primers
Posted On 2015-05-15