Incidental Mutation 'IGL01102:Hdac6'
ID 53330
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 # IGL01102
Quality Score
Status
Chromosome X
Chromosomal Location 7796359-7814128 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7813237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 42 (S42P)
Ref Sequence ENSEMBL: ENSMUSP00000121653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033501] [ENSMUST00000115642] [ENSMUST00000133349] [ENSMUST00000145675] [ENSMUST00000154244]
AlphaFold Q9Z2V5
Predicted Effect probably benign
Transcript: ENSMUST00000033501
AA Change: S42P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000033501
Gene: ENSMUSG00000031161
AA Change: S42P

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: S42P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000111306
Gene: ENSMUSG00000031161
AA Change: S42P

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: ENSMUST00000117520
Predicted Effect probably benign
Transcript: ENSMUST00000133349
AA Change: S42P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000120348
Gene: ENSMUSG00000031161
AA Change: S42P

DomainStartEndE-ValueType
Pfam:Hist_deacetyl 94 197 1.9e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137499
Predicted Effect probably benign
Transcript: ENSMUST00000145675
AA Change: S42P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000121653
Gene: ENSMUSG00000031161
AA Change: S42P

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 unknown
Transcript: ENSMUST00000154244
AA Change: S41P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154200
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,323,968 (GRCm39) probably benign Het
Bloc1s2-ps C T 2: 52,509,914 (GRCm39) A50V probably benign Het
Bltp3b T C 10: 89,627,240 (GRCm39) L435P probably benign Het
Col4a3 A G 1: 82,647,441 (GRCm39) D455G unknown Het
Col4a3 A G 1: 82,647,976 (GRCm39) I496V unknown Het
Coro1c A T 5: 113,987,675 (GRCm39) M222K probably benign Het
Dnah5 T A 15: 28,410,149 (GRCm39) probably null Het
Emc4 C A 2: 112,197,871 (GRCm39) probably benign Het
Fcer2a T C 8: 3,738,842 (GRCm39) D32G possibly damaging Het
Fhip1a A G 3: 85,572,808 (GRCm39) probably benign Het
Garnl3 T C 2: 32,896,828 (GRCm39) K559E probably damaging Het
Gckr T C 5: 31,466,381 (GRCm39) L452P probably damaging Het
Gm4841 A G 18: 60,403,124 (GRCm39) V323A probably damaging Het
Gm6902 T A 7: 22,973,087 (GRCm39) I147L probably benign Het
Gpr75 T C 11: 30,841,755 (GRCm39) V220A probably benign Het
Hdhd2 A G 18: 77,044,607 (GRCm39) N128S probably damaging Het
Hsd3b2 G T 3: 98,618,995 (GRCm39) R317S probably damaging Het
Il23r T A 6: 67,400,909 (GRCm39) I474F probably damaging Het
Itga5 T C 15: 103,255,102 (GRCm39) Y954C probably benign Het
Itgam T C 7: 127,679,445 (GRCm39) F196L possibly damaging Het
Mapkbp1 T C 2: 119,852,339 (GRCm39) V957A possibly damaging Het
Mblac2 T C 13: 81,898,125 (GRCm39) M167T probably damaging Het
Mterf4 C T 1: 93,232,812 (GRCm39) R13H possibly damaging Het
Npffr1 T G 10: 61,449,987 (GRCm39) V87G probably damaging Het
Or5h18 G A 16: 58,848,192 (GRCm39) P26L probably benign Het
Or6c76b A G 10: 129,692,497 (GRCm39) I37V probably benign Het
Phldb2 A G 16: 45,645,423 (GRCm39) L386P probably damaging Het
Ppp1r13b A G 12: 111,799,653 (GRCm39) I708T probably benign Het
Pramel31 A G 4: 144,090,195 (GRCm39) I412V probably benign Het
Ramp2 T A 11: 101,138,453 (GRCm39) Y85N probably benign Het
Rnf217 A G 10: 31,484,499 (GRCm39) Y228H probably damaging Het
Rock1 T G 18: 10,080,502 (GRCm39) D1014A probably benign Het
Scyl3 T A 1: 163,762,338 (GRCm39) C101* probably null Het
Sema6b G T 17: 56,439,761 (GRCm39) L27I possibly damaging Het
Slc10a5 A G 3: 10,400,369 (GRCm39) V97A probably benign Het
Strc C A 2: 121,195,541 (GRCm39) R1636L probably benign Het
Tm9sf1 T A 14: 55,880,224 (GRCm39) T58S probably damaging Het
Tmem106c T C 15: 97,864,825 (GRCm39) Y85H probably damaging Het
Vmn2r9 A G 5: 108,990,811 (GRCm39) probably null Het
Vps13a A G 19: 16,628,781 (GRCm39) probably null Het
Zfp976 A T 7: 42,263,333 (GRCm39) L168* probably null 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
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