Incidental Mutation 'R0612:Hdac5'
ID 54834
Institutional Source Beutler Lab
Gene Symbol Hdac5
Ensembl Gene ENSMUSG00000008855
Gene Name histone deacetylase 5
Synonyms mHDA1
MMRRC Submission 038801-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0612 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 102085244-102120968 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102087078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1042 (V1042A)
Ref Sequence ENSEMBL: ENSMUSP00000102768 (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 possibly damaging
Transcript: ENSMUST00000008999
AA Change: V1061A

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000008999
Gene: ENSMUSG00000008855
AA Change: V1061A

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 possibly damaging
Transcript: ENSMUST00000107150
AA Change: V1042A

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102768
Gene: ENSMUSG00000008855
AA Change: V1042A

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 benign
Transcript: ENSMUST00000107151
AA Change: V958A

PolyPhen 2 Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102769
Gene: ENSMUSG00000008855
AA Change: V958A

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 possibly damaging
Transcript: ENSMUST00000107152
AA Change: V1043A

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102770
Gene: ENSMUSG00000008855
AA Change: V1043A

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 probably benign
Transcript: ENSMUST00000140962
AA Change: V34A

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000115435
Gene: ENSMUSG00000008855
AA Change: V34A

DomainStartEndE-ValueType
PDB:2VQQ|B 1 71 3e-21 PDB
transmembrane domain 118 135 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153178
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136304
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124594
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137787
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139995
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145490
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155065
Meta Mutation Damage Score 0.6093 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 99.0%
  • 10x: 97.2%
  • 20x: 93.5%
Validation Efficiency 98% (92/94)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,936,478 (GRCm39) L181P probably damaging Het
Aldh3a1 A T 11: 61,105,445 (GRCm39) I184F probably damaging Het
Arl6ip4 A G 5: 124,254,596 (GRCm39) S30G probably benign Het
Atp9b T C 18: 80,797,171 (GRCm39) E891G possibly damaging Het
Brsk1 T C 7: 4,710,425 (GRCm39) L478P possibly damaging Het
Btaf1 G A 19: 36,946,537 (GRCm39) V448I probably damaging Het
Cab39 T C 1: 85,746,236 (GRCm39) probably null Het
Cacna2d4 G T 6: 119,258,679 (GRCm39) probably benign Het
Capzb C T 4: 139,018,340 (GRCm39) S253L probably benign Het
Ccdc174 A G 6: 91,867,873 (GRCm39) probably benign Het
Ccdc180 C T 4: 45,927,969 (GRCm39) A1168V probably damaging Het
Cdh19 T C 1: 110,820,900 (GRCm39) probably benign Het
Cdh8 T C 8: 100,127,546 (GRCm39) T22A probably benign Het
Cdk10 T C 8: 123,957,419 (GRCm39) V181A probably benign Het
Ceacam15 A C 7: 16,407,445 (GRCm39) L24* probably null Het
Cftr A C 6: 18,198,125 (GRCm39) T20P probably benign Het
Cip2a C T 16: 48,819,402 (GRCm39) A112V probably benign Het
Clstn3 T C 6: 124,426,459 (GRCm39) T576A probably damaging Het
Col1a2 G A 6: 4,516,003 (GRCm39) V165I unknown Het
Copg2 A T 6: 30,838,404 (GRCm39) probably null Het
Cps1 A G 1: 67,178,929 (GRCm39) H47R probably benign Het
Cytip T C 2: 58,024,202 (GRCm39) D206G possibly damaging Het
Dcaf8l G A X: 88,448,972 (GRCm39) R386* probably null Het
Dnmt1 C T 9: 20,829,489 (GRCm39) E824K probably damaging Het
Dock7 A C 4: 98,877,470 (GRCm39) V442G probably benign Het
Dsc1 T G 18: 20,247,573 (GRCm39) K14T probably damaging Het
Dync1h1 C T 12: 110,582,930 (GRCm39) P371L probably damaging Het
Enah A G 1: 181,734,013 (GRCm39) probably benign Het
Entrep2 C T 7: 64,411,549 (GRCm39) V395M probably benign Het
Fastkd1 T C 2: 69,542,727 (GRCm39) T27A probably benign Het
Fcho1 A G 8: 72,168,168 (GRCm39) L248P probably damaging Het
Fezf1 A T 6: 23,247,028 (GRCm39) V268D probably damaging Het
Fgd2 T A 17: 29,597,321 (GRCm39) V547E probably benign Het
Flnb T A 14: 7,887,682 (GRCm38) probably benign Het
Gabrg3 A G 7: 56,379,454 (GRCm39) M316T probably damaging Het
Gigyf2 T C 1: 87,376,802 (GRCm39) F1265L probably damaging Het
Git2 A G 5: 114,890,342 (GRCm39) S271P probably damaging Het
Gorab T C 1: 163,224,738 (GRCm39) D21G possibly damaging Het
Gpr179 T A 11: 97,229,264 (GRCm39) T964S possibly damaging Het
Hoxa2 T A 6: 52,140,540 (GRCm39) T149S probably damaging Het
Igsf8 G T 1: 172,146,974 (GRCm39) *108L probably null Het
Il1rap C T 16: 26,519,855 (GRCm39) T307M possibly damaging Het
Itih2 T C 2: 10,122,205 (GRCm39) D232G probably benign Het
Jak3 A G 8: 72,136,021 (GRCm39) Y607C probably damaging Het
Kcnh1 C T 1: 191,959,361 (GRCm39) P305L probably damaging Het
Lrrc7 T A 3: 157,869,990 (GRCm39) I644F probably damaging Het
Lrrn2 T C 1: 132,865,466 (GRCm39) L177P probably damaging Het
Lypd8l A G 11: 58,502,799 (GRCm39) probably null Het
Map4k3 C A 17: 80,909,622 (GRCm39) K712N probably damaging Het
Med11 A G 11: 70,342,910 (GRCm39) T36A probably benign Het
Mmp14 A G 14: 54,677,891 (GRCm39) D504G probably damaging Het
Mob1a A G 6: 83,311,140 (GRCm39) T120A probably benign Het
Mr1 T A 1: 155,013,436 (GRCm39) D47V probably damaging Het
Nacad G T 11: 6,551,382 (GRCm39) A603E possibly damaging Het
Nwd1 T A 8: 73,394,308 (GRCm39) W524R probably damaging Het
Or11g26 A T 14: 50,752,939 (GRCm39) T93S probably benign Het
Or13a19 T A 7: 139,903,101 (GRCm39) M163K possibly damaging Het
Or4e1 T C 14: 52,701,008 (GRCm39) T153A probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pde6c T A 19: 38,121,694 (GRCm39) C101S probably benign Het
Pdia3 G A 2: 121,262,858 (GRCm39) G275S probably damaging Het
Pdlim4 G A 11: 53,959,713 (GRCm39) R16C probably damaging Het
Pfkp A G 13: 6,655,670 (GRCm39) probably null Het
Plcg2 T A 8: 118,300,104 (GRCm39) S225T probably benign Het
Pramel1 T C 4: 143,124,101 (GRCm39) S259P probably damaging Het
Pramel27 G T 4: 143,578,658 (GRCm39) probably benign Het
Rc3h2 T C 2: 37,301,227 (GRCm39) N92D possibly damaging Het
Ric8b C A 10: 84,837,745 (GRCm39) N517K probably damaging Het
Rnf34 G A 5: 123,002,237 (GRCm39) R65H probably damaging Het
Rraga C T 4: 86,494,564 (GRCm39) R137C probably damaging Het
Scube2 C T 7: 109,403,971 (GRCm39) probably benign Het
Slc28a2b T C 2: 122,352,179 (GRCm39) M339T probably damaging Het
Spata31d1d T C 13: 59,875,787 (GRCm39) I583V probably benign Het
Suox T C 10: 128,506,525 (GRCm39) E501G probably benign Het
Susd1 A G 4: 59,390,561 (GRCm39) probably benign Het
Tac1 T C 6: 7,555,653 (GRCm39) S14P probably damaging Het
Tbc1d8 T C 1: 39,411,596 (GRCm39) E1080G possibly damaging Het
Tll1 A C 8: 64,524,344 (GRCm39) S447R possibly damaging Het
Tmem132e G A 11: 82,334,198 (GRCm39) V662M probably damaging Het
Upf2 G T 2: 6,038,909 (GRCm39) probably benign Het
Uspl1 A G 5: 149,151,767 (GRCm39) E989G probably damaging Het
Vmn1r58 T C 7: 5,413,618 (GRCm39) H204R probably damaging Het
Vmn2r25 A T 6: 123,816,481 (GRCm39) C367S probably damaging Het
Vps13b A T 15: 35,623,803 (GRCm39) Q1240L probably benign Het
Xrcc1 C T 7: 24,269,744 (GRCm39) probably benign Het
Yeats2 T G 16: 20,005,175 (GRCm39) V385G probably benign 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
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
R1673:Hdac5 UTSW 11 102,089,631 (GRCm39) missense probably damaging 1.00
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'- TGTACACAGCTCCAGTGTTTGCC -3'
(R):5'- ACTTGACCGCCATCTGTGATGC -3'

Sequencing Primer
(F):5'- CAGTGTTTGCCTATGGCAAGAAG -3'
(R):5'- GTCAGTAGGGACATCCACTTC -3'
Posted On 2013-07-11