Incidental Mutation 'R1673:Hdac5'
ID 187839
Institutional Source Beutler Lab
Gene Symbol Hdac5
Ensembl Gene ENSMUSG00000008855
Gene Name histone deacetylase 5
Synonyms mHDA1
MMRRC Submission 039709-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1673 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 102085244-102120968 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 102089631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 860 (V860M)
Ref Sequence ENSEMBL: ENSMUSP00000102770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008999] [ENSMUST00000070334] [ENSMUST00000078975] [ENSMUST00000107150] [ENSMUST00000107151] [ENSMUST00000107152] [ENSMUST00000124077] [ENSMUST00000140962]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000008999
AA Change: V878M

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000008999
Gene: ENSMUSG00000008855
AA Change: V878M

DomainStartEndE-ValueType
low complexity region 58 75 N/A INTRINSIC
Pfam:HDAC4_Gln 86 174 1e-30 PFAM
low complexity region 233 247 N/A INTRINSIC
low complexity region 322 337 N/A INTRINSIC
low complexity region 502 541 N/A INTRINSIC
low complexity region 560 577 N/A INTRINSIC
coiled coil region 583 617 N/A INTRINSIC
Pfam:Hist_deacetyl 704 1034 1.4e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000070334
SMART Domains Protein: ENSMUSP00000064276
Gene: ENSMUSG00000034793

DomainStartEndE-ValueType
acidPPc 53 187 2.53e-15 SMART
transmembrane domain 196 218 N/A INTRINSIC
transmembrane domain 284 302 N/A INTRINSIC
transmembrane domain 317 336 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000078975
SMART Domains Protein: ENSMUSP00000077995
Gene: ENSMUSG00000034793

DomainStartEndE-ValueType
acidPPc 53 187 2.53e-15 SMART
transmembrane domain 196 218 N/A INTRINSIC
transmembrane domain 284 302 N/A INTRINSIC
transmembrane domain 317 336 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107150
AA Change: V859M

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102768
Gene: ENSMUSG00000008855
AA Change: V859M

DomainStartEndE-ValueType
low complexity region 39 56 N/A INTRINSIC
Pfam:HDAC4_Gln 66 155 5.1e-37 PFAM
low complexity region 214 228 N/A INTRINSIC
low complexity region 303 318 N/A INTRINSIC
low complexity region 483 522 N/A INTRINSIC
low complexity region 541 558 N/A INTRINSIC
coiled coil region 564 598 N/A INTRINSIC
Pfam:Hist_deacetyl 685 1015 9.4e-91 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107151
AA Change: V775M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102769
Gene: ENSMUSG00000008855
AA Change: V775M

DomainStartEndE-ValueType
low complexity region 40 57 N/A INTRINSIC
Pfam:HDAC4_Gln 67 156 1.1e-37 PFAM
low complexity region 215 229 N/A INTRINSIC
low complexity region 304 319 N/A INTRINSIC
low complexity region 484 523 N/A INTRINSIC
low complexity region 542 559 N/A INTRINSIC
coiled coil region 565 599 N/A INTRINSIC
Pfam:Hist_deacetyl 618 931 1.2e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107152
AA Change: V860M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102770
Gene: ENSMUSG00000008855
AA Change: V860M

DomainStartEndE-ValueType
low complexity region 40 57 N/A INTRINSIC
Pfam:HDAC4_Gln 67 156 3.7e-37 PFAM
low complexity region 215 229 N/A INTRINSIC
low complexity region 304 319 N/A INTRINSIC
low complexity region 484 523 N/A INTRINSIC
low complexity region 542 559 N/A INTRINSIC
coiled coil region 565 599 N/A INTRINSIC
Pfam:Hist_deacetyl 686 1016 6.4e-91 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124077
SMART Domains Protein: ENSMUSP00000116672
Gene: ENSMUSG00000008855

DomainStartEndE-ValueType
low complexity region 37 50 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155065
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136304
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137787
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145540
Predicted Effect probably benign
Transcript: ENSMUST00000140962
SMART Domains Protein: ENSMUSP00000115435
Gene: ENSMUSG00000008855

DomainStartEndE-ValueType
PDB:2VQQ|B 1 71 3e-21 PDB
transmembrane domain 118 135 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
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 the class II histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. It coimmunoprecipitates only with HDAC3 family member and might form multicomplex proteins. It also interacts with myocyte enhancer factor-2 (MEF2) proteins, resulting in repression of MEF2-dependent genes. This gene is thought to be associated with colon cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and display cardiac hypertrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,103,165 (GRCm39) S809G probably benign Het
Ap4b1 T A 3: 103,725,161 (GRCm39) probably null Het
Aqp12 A G 1: 92,934,606 (GRCm39) Q161R possibly damaging Het
Atp8a2 A G 14: 60,028,689 (GRCm39) I926T probably benign Het
Cacna2d1 A T 5: 16,504,988 (GRCm39) N314I probably damaging Het
Cd209d A G 8: 3,927,113 (GRCm39) S81P probably damaging Het
Cdcp1 T A 9: 123,007,086 (GRCm39) K554* probably null Het
Celsr1 A G 15: 85,816,658 (GRCm39) Y1762H probably benign Het
Cklf A G 8: 104,983,983 (GRCm39) T49A possibly damaging Het
Col12a1 T G 9: 79,600,820 (GRCm39) I755L probably benign Het
Cts3 G A 13: 61,715,368 (GRCm39) Q140* probably null Het
Ddx1 A T 12: 13,294,967 (GRCm39) probably null Het
Dnah3 C A 7: 119,570,402 (GRCm39) E2262* probably null Het
Dnah5 A G 15: 28,290,294 (GRCm39) N1228S probably benign Het
Dsg1a G A 18: 20,464,561 (GRCm39) R352Q probably damaging Het
Efcab5 A G 11: 77,042,679 (GRCm39) F25L probably damaging Het
Efhd1 T A 1: 87,192,404 (GRCm39) V78D probably damaging Het
Eif5a2 T C 3: 28,847,967 (GRCm39) probably null Het
Elp2 T A 18: 24,744,983 (GRCm39) V101D possibly damaging Het
Enpp2 A T 15: 54,773,592 (GRCm39) probably null Het
F5 A G 1: 164,007,089 (GRCm39) T298A probably damaging Het
Fbxo21 G T 5: 118,146,129 (GRCm39) R584L probably benign Het
Fbxw22 G T 9: 109,211,196 (GRCm39) F368L possibly damaging Het
Gcn1 T C 5: 115,720,356 (GRCm39) I409T probably benign Het
Gm12887 T C 4: 121,473,655 (GRCm39) Y65C probably damaging Het
Gria4 G A 9: 4,537,637 (GRCm39) Q224* probably null Het
Ino80 G A 2: 119,212,417 (GRCm39) R1302C probably damaging Het
Kcns2 A T 15: 34,838,966 (GRCm39) I110F probably damaging Het
Lrig3 A G 10: 125,846,036 (GRCm39) T822A probably damaging Het
Mapk6 T C 9: 75,302,851 (GRCm39) D214G probably damaging Het
Mcm2 A T 6: 88,869,060 (GRCm39) L264Q probably benign Het
Mpnd A T 17: 56,317,455 (GRCm39) Y64F probably damaging Het
Muc1 T A 3: 89,139,079 (GRCm39) M520K possibly damaging Het
Muc4 T A 16: 32,577,276 (GRCm39) S189T probably benign Het
Myh13 T C 11: 67,242,945 (GRCm39) S953P possibly damaging Het
Ncf2 A T 1: 152,706,230 (GRCm39) M281L probably benign Het
Nipal2 A G 15: 34,648,841 (GRCm39) I116T probably damaging Het
Nptn T C 9: 58,531,015 (GRCm39) L46P probably benign Het
Or2b6 A T 13: 21,823,214 (GRCm39) S160T probably damaging Het
Or4k77 A G 2: 111,199,552 (GRCm39) T192A probably benign Het
Or51ag1 C A 7: 103,155,896 (GRCm39) V86F probably damaging Het
Or5ae1 T A 7: 84,565,325 (GRCm39) F113I probably damaging Het
Pgr A T 9: 8,902,069 (GRCm39) Y534F possibly damaging Het
Pip4k2a A T 2: 18,877,093 (GRCm39) probably null Het
Pkd1l2 C G 8: 117,767,514 (GRCm39) V1259L probably benign Het
Ppp1r12a A G 10: 108,085,426 (GRCm39) E457G probably damaging Het
Rasa4 T A 5: 136,133,491 (GRCm39) V650D probably benign Het
Rem2 C T 14: 54,713,766 (GRCm39) probably benign Het
Rps18-ps6 A T 13: 97,896,868 (GRCm39) Y77N possibly damaging Het
Sdc1 G A 12: 8,840,409 (GRCm39) R62Q possibly damaging Het
Sdk1 A G 5: 141,934,261 (GRCm39) E366G possibly damaging Het
Setd2 T A 9: 110,433,248 (GRCm39) H2406Q probably damaging Het
Slc30a5 A G 13: 100,949,891 (GRCm39) V397A probably benign Het
Slc36a2 A T 11: 55,075,739 (GRCm39) L16H possibly damaging Het
Slc44a1 T C 4: 53,542,468 (GRCm39) V334A probably benign Het
Sox8 A T 17: 25,786,456 (GRCm39) Y416N possibly damaging Het
Speg T C 1: 75,387,807 (GRCm39) V1416A possibly damaging Het
Stimate T C 14: 30,586,391 (GRCm39) L72S possibly damaging Het
Stk24 T A 14: 121,574,983 (GRCm39) I42F probably damaging Het
Tasor2 A G 13: 3,634,498 (GRCm39) probably null Het
Tcerg1 T A 18: 42,685,646 (GRCm39) L661Q possibly damaging Het
Tpp1 G A 7: 105,396,880 (GRCm39) R417W probably damaging Het
Trim12a T A 7: 103,955,264 (GRCm39) D153V possibly damaging Het
Trpm2 T C 10: 77,778,778 (GRCm39) N396S probably benign Het
Ttn T C 2: 76,637,427 (GRCm39) K5695R probably damaging Het
Ttn G A 2: 76,640,631 (GRCm39) R11960C probably damaging Het
Tulp3 A C 6: 128,310,906 (GRCm39) probably null Het
Uaca T A 9: 60,779,438 (GRCm39) L1273H probably damaging Het
Usp33 A G 3: 152,073,919 (GRCm39) E255G probably damaging Het
Vmn2r54 T G 7: 12,350,138 (GRCm39) probably null Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Wnt5b A T 6: 119,423,315 (GRCm39) F116L probably benign Het
Zbtb12 CTTCAT CTTCATTCAT 17: 35,115,284 (GRCm39) probably null Het
Zbtb12 TCATC TCATCCATC 17: 35,115,286 (GRCm39) probably null Het
Zfp408 G A 2: 91,476,353 (GRCm39) T367I probably damaging Het
Zfp512b G A 2: 181,230,286 (GRCm39) A480V possibly damaging Het
Zfp560 T C 9: 20,258,949 (GRCm39) T638A probably benign Het
Zfp932 G T 5: 110,156,854 (GRCm39) G151V probably damaging Het
Zpbp T C 11: 11,302,696 (GRCm39) K320E probably damaging Het
Zranb2 C T 3: 157,243,277 (GRCm39) P91L probably damaging Het
Other mutations in Hdac5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Hdac5 APN 11 102,088,168 (GRCm39) missense probably damaging 1.00
IGL01614:Hdac5 APN 11 102,090,854 (GRCm39) missense probably benign 0.38
IGL01799:Hdac5 APN 11 102,090,911 (GRCm39) missense possibly damaging 0.71
IGL02839:Hdac5 APN 11 102,095,734 (GRCm39) missense probably damaging 1.00
E0354:Hdac5 UTSW 11 102,092,972 (GRCm39) unclassified probably benign
R0544:Hdac5 UTSW 11 102,086,922 (GRCm39) missense probably damaging 1.00
R0612:Hdac5 UTSW 11 102,087,078 (GRCm39) missense possibly damaging 0.92
R0632:Hdac5 UTSW 11 102,096,638 (GRCm39) missense probably damaging 1.00
R0659:Hdac5 UTSW 11 102,086,850 (GRCm39) missense probably damaging 1.00
R0930:Hdac5 UTSW 11 102,095,472 (GRCm39) missense probably benign 0.02
R1195:Hdac5 UTSW 11 102,096,332 (GRCm39) missense probably damaging 0.99
R1195:Hdac5 UTSW 11 102,096,332 (GRCm39) missense probably damaging 0.99
R1195:Hdac5 UTSW 11 102,096,332 (GRCm39) missense probably damaging 0.99
R1475:Hdac5 UTSW 11 102,093,012 (GRCm39) missense possibly damaging 0.94
R1491:Hdac5 UTSW 11 102,092,079 (GRCm39) missense probably benign
R1596:Hdac5 UTSW 11 102,095,482 (GRCm39) splice site probably null
R1783:Hdac5 UTSW 11 102,091,342 (GRCm39) missense probably benign
R1932:Hdac5 UTSW 11 102,086,698 (GRCm39) splice site probably benign
R2197:Hdac5 UTSW 11 102,095,340 (GRCm39) missense probably damaging 1.00
R2348:Hdac5 UTSW 11 102,090,840 (GRCm39) missense probably benign 0.44
R2518:Hdac5 UTSW 11 102,087,962 (GRCm39) missense probably damaging 1.00
R3081:Hdac5 UTSW 11 102,096,436 (GRCm39) missense probably damaging 1.00
R3622:Hdac5 UTSW 11 102,086,644 (GRCm39) missense probably benign 0.34
R4543:Hdac5 UTSW 11 102,104,770 (GRCm39) intron probably benign
R4559:Hdac5 UTSW 11 102,089,928 (GRCm39) unclassified probably benign
R4661:Hdac5 UTSW 11 102,096,675 (GRCm39) missense probably damaging 1.00
R4682:Hdac5 UTSW 11 102,097,456 (GRCm39) missense probably null 0.99
R4708:Hdac5 UTSW 11 102,093,019 (GRCm39) missense probably damaging 0.97
R4933:Hdac5 UTSW 11 102,091,389 (GRCm39) unclassified probably benign
R4957:Hdac5 UTSW 11 102,096,082 (GRCm39) unclassified probably benign
R4991:Hdac5 UTSW 11 102,096,450 (GRCm39) missense probably damaging 1.00
R5090:Hdac5 UTSW 11 102,088,539 (GRCm39) missense probably damaging 1.00
R5103:Hdac5 UTSW 11 102,087,109 (GRCm39) missense probably damaging 0.98
R5330:Hdac5 UTSW 11 102,088,180 (GRCm39) missense probably damaging 1.00
R5331:Hdac5 UTSW 11 102,088,180 (GRCm39) missense probably damaging 1.00
R5386:Hdac5 UTSW 11 102,092,967 (GRCm39) missense possibly damaging 0.71
R5449:Hdac5 UTSW 11 102,086,923 (GRCm39) nonsense probably null
R5682:Hdac5 UTSW 11 102,104,749 (GRCm39) intron probably benign
R6615:Hdac5 UTSW 11 102,087,882 (GRCm39) splice site probably null
R6705:Hdac5 UTSW 11 102,092,062 (GRCm39) missense probably damaging 0.99
R6875:Hdac5 UTSW 11 102,093,102 (GRCm39) missense probably damaging 1.00
R6952:Hdac5 UTSW 11 102,095,786 (GRCm39) missense probably benign
R7179:Hdac5 UTSW 11 102,095,385 (GRCm39) missense possibly damaging 0.74
R7368:Hdac5 UTSW 11 102,088,207 (GRCm39) missense probably null 1.00
R8140:Hdac5 UTSW 11 102,088,181 (GRCm39) missense probably damaging 1.00
R8151:Hdac5 UTSW 11 102,097,294 (GRCm39) missense probably benign 0.00
R8684:Hdac5 UTSW 11 102,096,147 (GRCm39) missense probably benign 0.01
R8719:Hdac5 UTSW 11 102,097,963 (GRCm39) missense probably benign 0.18
R8751:Hdac5 UTSW 11 102,109,280 (GRCm39) missense probably benign 0.19
R8893:Hdac5 UTSW 11 102,097,512 (GRCm39) missense possibly damaging 0.82
R9337:Hdac5 UTSW 11 102,096,178 (GRCm39) missense probably damaging 1.00
R9516:Hdac5 UTSW 11 102,093,522 (GRCm39) missense probably benign 0.08
R9595:Hdac5 UTSW 11 102,096,129 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- CACTGCTCAAGGTAAGACATCTGGC -3'
(R):5'- ATGTGAGTACCCCTCTGACCTGAC -3'

Sequencing Primer
(F):5'- CAAGGTAAGACATCTGGCTGTTG -3'
(R):5'- GACCTGACATCCTTCTGCCATC -3'
Posted On 2014-05-09