Incidental Mutation 'R1491:Hdac5'
ID 163764
Institutional Source Beutler Lab
Gene Symbol Hdac5
Ensembl Gene ENSMUSG00000008855
Gene Name histone deacetylase 5
Synonyms mHDA1
MMRRC Submission 039543-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1491 (G1)
Quality Score 114
Status Not validated
Chromosome 11
Chromosomal Location 102085244-102120968 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102092079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 670 (V670A)
Ref Sequence ENSEMBL: ENSMUSP00000102770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008999] [ENSMUST00000107150] [ENSMUST00000107151] [ENSMUST00000107152] [ENSMUST00000124077] [ENSMUST00000140962] [ENSMUST00000156337]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000008999
AA Change: V688A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000008999
Gene: ENSMUSG00000008855
AA Change: V688A

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: ENSMUST00000107150
AA Change: V669A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102768
Gene: ENSMUSG00000008855
AA Change: V669A

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 unknown
Transcript: ENSMUST00000107151
AA Change: V670A
SMART Domains Protein: ENSMUSP00000102769
Gene: ENSMUSG00000008855
AA Change: V670A

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 benign
Transcript: ENSMUST00000107152
AA Change: V670A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102770
Gene: ENSMUSG00000008855
AA Change: V670A

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: ENSMUST00000126453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136304
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137787
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155065
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140481
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
Predicted Effect probably benign
Transcript: ENSMUST00000156337
SMART Domains Protein: ENSMUSP00000116646
Gene: ENSMUSG00000008855

DomainStartEndE-ValueType
low complexity region 1 15 N/A INTRINSIC
Pfam:HDAC4_Gln 25 114 2e-38 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.2%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730018C14Rik T A 12: 112,381,489 (GRCm39) noncoding transcript Het
Acss3 A G 10: 106,773,169 (GRCm39) S606P probably benign Het
Adamts13 C T 2: 26,868,327 (GRCm39) T146M probably damaging Het
Adora2b G A 11: 62,156,363 (GRCm39) V271M probably benign Het
Agpat5 A G 8: 18,896,739 (GRCm39) Y55C probably damaging Het
AI987944 A C 7: 41,023,772 (GRCm39) Y402* probably null Het
Angptl4 C T 17: 34,000,165 (GRCm39) A68T possibly damaging Het
Ankmy1 T C 1: 92,814,531 (GRCm39) I325M probably benign Het
Arfgap2 A G 2: 91,105,204 (GRCm39) K423E probably damaging Het
Arfgef3 A T 10: 18,522,302 (GRCm39) S575T probably damaging Het
Arhgap24 A G 5: 103,008,198 (GRCm39) I40V possibly damaging Het
Arhgef7 T C 8: 11,869,733 (GRCm39) probably null Het
Arid1a C A 4: 133,448,237 (GRCm39) S477I unknown Het
Armc7 T C 11: 115,367,029 (GRCm39) V58A probably damaging Het
Arrdc5 A T 17: 56,601,222 (GRCm39) I301N probably damaging Het
Capn15 G A 17: 26,183,453 (GRCm39) P343S probably damaging Het
Catspere2 C T 1: 177,843,495 (GRCm39) T69I possibly damaging Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Cgn C T 3: 94,670,535 (GRCm39) R1002Q probably damaging Het
Clstn3 A T 6: 124,414,449 (GRCm39) I759N possibly damaging Het
Cops5 A G 1: 10,104,243 (GRCm39) V166A possibly damaging Het
Cramp1 G T 17: 25,191,323 (GRCm39) T1046K probably benign Het
Cthrc1 T G 15: 38,950,072 (GRCm39) V143G probably damaging Het
Cul9 G A 17: 46,849,490 (GRCm39) Q552* probably null Het
Cyp27b1 A T 10: 126,886,957 (GRCm39) D391V probably damaging Het
Dcun1d2 A G 8: 13,331,040 (GRCm39) L30S probably damaging Het
Dsc3 T C 18: 20,120,091 (GRCm39) E189G probably damaging Het
Dst T G 1: 34,193,675 (GRCm39) S295A probably damaging Het
Dusp22 A G 13: 30,892,798 (GRCm39) T192A probably benign Het
Esp24 A T 17: 39,349,176 (GRCm39) M1L probably null Het
Evc2 G A 5: 37,550,541 (GRCm39) probably null Het
Fgd6 A G 10: 93,880,694 (GRCm39) N516S probably benign Het
Fmn1 T C 2: 113,426,714 (GRCm39) Y1144H probably damaging Het
Fut8 T A 12: 77,495,448 (GRCm39) I346K possibly damaging Het
Gata3 A C 2: 9,882,201 (GRCm39) V32G probably damaging Het
Glrb A T 3: 80,819,282 (GRCm39) C39S possibly damaging Het
Gpr171 A G 3: 59,005,016 (GRCm39) V253A probably benign Het
Hmgxb3 T C 18: 61,266,980 (GRCm39) S1085G probably benign Het
Hspa4l A G 3: 40,741,226 (GRCm39) N746S probably benign Het
Hyal5 A G 6: 24,877,902 (GRCm39) T333A probably benign Het
Ippk T C 13: 49,615,069 (GRCm39) V484A probably benign Het
Jmjd8 A T 17: 26,048,266 (GRCm39) T33S possibly damaging Het
Kctd19 T A 8: 106,113,694 (GRCm39) I660L possibly damaging Het
Lrat A G 3: 82,810,649 (GRCm39) V124A probably benign Het
Madcam1 A G 10: 79,502,358 (GRCm39) I281V probably benign Het
Mast2 T A 4: 116,173,688 (GRCm39) I455F possibly damaging Het
Mroh7 A G 4: 106,560,255 (GRCm39) L683P probably benign Het
Myo15b C A 11: 115,777,683 (GRCm39) probably null Het
Ncam1 T C 9: 49,416,849 (GRCm39) E814G probably benign Het
Ncoa3 A G 2: 165,897,182 (GRCm39) T658A probably benign Het
Or13a20 T G 7: 140,232,650 (GRCm39) Y253D probably damaging Het
Or9a2 T C 6: 41,748,456 (GRCm39) Y259C possibly damaging Het
P2ry13 T C 3: 59,116,939 (GRCm39) K280E probably damaging Het
Paqr8 C A 1: 21,005,048 (GRCm39) F67L probably benign Het
Pfkfb3 G T 2: 11,498,747 (GRCm39) R37S probably damaging Het
Phf14 A G 6: 11,941,478 (GRCm39) D310G possibly damaging Het
Phkb A G 8: 86,602,286 (GRCm39) S26G possibly damaging Het
Pkd1l2 T A 8: 117,755,147 (GRCm39) I1684F probably damaging Het
Plod2 T C 9: 92,488,637 (GRCm39) V621A probably benign Het
Plvap T C 8: 71,964,116 (GRCm39) N82S probably damaging Het
Pomgnt2 A G 9: 121,811,326 (GRCm39) V485A probably damaging Het
Psmd9 A G 5: 123,366,410 (GRCm39) E14G probably benign Het
Pwwp2b A G 7: 138,835,879 (GRCm39) E440G probably damaging Het
Rasgrp1 G A 2: 117,113,100 (GRCm39) Q771* probably null Het
Rft1 C T 14: 30,388,744 (GRCm39) Q223* probably null Het
Rgs22 C A 15: 36,093,047 (GRCm39) V409F probably damaging Het
Rgsl1 G A 1: 153,701,672 (GRCm39) P261S possibly damaging Het
Rpl7a A G 2: 26,801,127 (GRCm39) N38S probably damaging Het
Sh3rf2 T A 18: 42,187,004 (GRCm39) F41Y probably damaging Het
Spata6 T A 4: 111,603,388 (GRCm39) S34R probably damaging Het
Sult2a3 A T 7: 13,856,867 (GRCm39) Y18N probably benign Het
Tapt1 A G 5: 44,375,444 (GRCm39) probably null Het
Tex2 A T 11: 106,394,466 (GRCm39) C615S possibly damaging Het
Trim43b T C 9: 88,969,665 (GRCm39) K261R possibly damaging Het
Unc5c T A 3: 141,495,583 (GRCm39) M484K probably damaging Het
Vezf1 T A 11: 87,964,573 (GRCm39) S242T probably damaging Het
Vmn2r1 A G 3: 63,997,034 (GRCm39) Y230C probably damaging Het
Vmn2r94 A G 17: 18,477,965 (GRCm39) S149P probably damaging Het
Wfdc1 T A 8: 120,393,405 (GRCm39) probably null Het
Zfp975 T C 7: 42,312,236 (GRCm39) T126A probably benign Het
Zmym4 T C 4: 126,776,105 (GRCm39) probably null 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
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'- AGAAGTGAAGACCCCTTTCCCCTC -3'
(R):5'- ATCGTGTAAGAGATGGCAAGCCTG -3'

Sequencing Primer
(F):5'- CTCCGTGCAGTTTTGCTAAG -3'
(R):5'- TTCAGACTGAGCCTTACGCAG -3'
Posted On 2014-03-28