Incidental Mutation 'R4043:Hdac6'
ID 475365
Institutional Source Beutler Lab
Gene Symbol Hdac6
Ensembl Gene ENSMUSG00000031161
Gene Name histone deacetylase 6
Synonyms Sfc6, mHDA2
MMRRC Submission 041615-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4043 (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: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 92.9%
Validation Efficiency 97% (64/66)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 T C 5: 30,409,360 (GRCm39) N44D probably benign Het
AU018091 A G 7: 3,208,962 (GRCm39) F375L probably damaging Het
Bsph1 G T 7: 13,192,201 (GRCm39) probably null Het
Casp1 A G 9: 5,302,444 (GRCm39) D122G probably benign Het
Ccdc146 C T 5: 21,521,941 (GRCm39) C361Y probably benign Het
Cdc37l1 T C 19: 28,968,028 (GRCm39) S31P possibly damaging Het
Cdca2 A T 14: 67,941,455 (GRCm39) M249K probably benign Het
Cfap73 C T 5: 120,768,030 (GRCm39) probably null Het
Cgnl1 A G 9: 71,612,575 (GRCm39) L749S probably damaging Het
Cmtr2 C A 8: 110,948,462 (GRCm39) C257* probably null Het
Col6a4 A T 9: 105,949,610 (GRCm39) L675* probably null Het
Cpne8 A T 15: 90,456,204 (GRCm39) D186E probably damaging Het
Csmd3 A G 15: 47,619,362 (GRCm39) probably null Het
Daglb T A 5: 143,472,906 (GRCm39) Y354N possibly damaging Het
Dlgap1 T C 17: 71,068,075 (GRCm39) S549P probably damaging Het
Dnah11 T C 12: 117,843,678 (GRCm39) D4389G probably damaging Het
Dst T A 1: 34,229,765 (GRCm39) C2631S probably benign Het
Gimap1 T A 6: 48,720,176 (GRCm39) W263R probably damaging Het
Gne A C 4: 44,040,383 (GRCm39) C594G possibly damaging Het
Gtf2a1 T C 12: 91,542,441 (GRCm39) H47R probably benign Het
Helz2 T C 2: 180,871,503 (GRCm39) D2703G probably benign Het
Jmjd1c G A 10: 67,055,245 (GRCm39) V222I possibly damaging Het
Katnip A G 7: 125,467,913 (GRCm39) I1366V probably benign Het
Kndc1 A G 7: 139,504,044 (GRCm39) E1116G probably benign Het
Krt10 C T 11: 99,277,819 (GRCm39) probably null Het
Lrrc37a T G 11: 103,389,479 (GRCm39) H1982P possibly damaging Het
Med13l T A 5: 118,731,528 (GRCm39) L68Q probably damaging Het
Megf10 C A 18: 57,392,870 (GRCm39) D422E probably damaging Het
Mpz C T 1: 170,987,340 (GRCm39) probably benign Het
Muc5ac A T 7: 141,361,215 (GRCm39) T1508S possibly damaging Het
Myo3a C T 2: 22,338,350 (GRCm39) probably benign Het
Ndnf A T 6: 65,680,920 (GRCm39) N400Y possibly damaging Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Or6p1 T C 1: 174,258,657 (GRCm39) I221T probably damaging Het
Or7g35 G T 9: 19,496,291 (GRCm39) V153F probably benign Het
Otol1 A G 3: 69,935,112 (GRCm39) D368G probably damaging Het
Pappa A G 4: 65,232,824 (GRCm39) N1321S probably benign Het
Patl1 T A 19: 11,920,314 (GRCm39) L756Q probably damaging Het
Plcg2 A G 8: 118,339,717 (GRCm39) M1043V probably benign Het
Plekhg2 G A 7: 28,064,144 (GRCm39) probably benign Het
Ppp2r2d G A 7: 138,484,145 (GRCm39) W265* probably null 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
Radil T A 5: 142,479,988 (GRCm39) I471F probably benign Het
Radx C T X: 138,407,752 (GRCm39) S364L probably damaging Het
Rpl10l A T 12: 66,330,977 (GRCm39) M52K probably damaging Het
Scn1a A T 2: 66,156,380 (GRCm39) S510T possibly damaging Het
Sdad1 T G 5: 92,450,553 (GRCm39) N194T probably damaging Het
Sel1l3 A T 5: 53,345,396 (GRCm39) Y259* probably null Het
Slc22a26 T C 19: 7,765,694 (GRCm39) probably null Het
Snap91 C T 9: 86,659,102 (GRCm39) G477D probably damaging Het
Spata6l A T 19: 28,923,183 (GRCm39) C80S possibly damaging Het
Srr T C 11: 74,799,947 (GRCm39) T202A probably benign Het
Srrm1 C T 4: 135,068,242 (GRCm39) probably benign Het
Trp53bp2 T A 1: 182,276,626 (GRCm39) L869Q possibly damaging Het
Ttbk1 T A 17: 46,757,688 (GRCm39) D982V probably benign Het
Ttn T C 2: 76,624,501 (GRCm39) T15324A probably benign Het
Ush1c T C 7: 45,870,952 (GRCm39) E276G probably damaging Het
Vcan T A 13: 89,840,662 (GRCm39) L1627F probably benign Het
Vps8 A C 16: 21,345,146 (GRCm39) D823A probably damaging Het
Zfp616 T A 11: 73,976,108 (GRCm39) N792K possibly damaging Het
Zfpm2 A T 15: 40,734,023 (GRCm39) D2V possibly damaging Het
Zfyve16 A C 13: 92,650,271 (GRCm39) probably null Het
Zmym2 T A 14: 57,195,765 (GRCm39) 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
R4042: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 2017-04-14