Incidental Mutation 'R5386:Hdac5'
ID 425256
Institutional Source Beutler Lab
Gene Symbol Hdac5
Ensembl Gene ENSMUSG00000008855
Gene Name histone deacetylase 5
Synonyms mHDA1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5386 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 102085244-102120968 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102092967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 590 (E590G)
Ref Sequence ENSEMBL: ENSMUSP00000102769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008999] [ENSMUST00000107150] [ENSMUST00000107151] [ENSMUST00000107152] [ENSMUST00000124077] [ENSMUST00000131254] [ENSMUST00000156337]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000008999
AA Change: E608G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000008999
Gene: ENSMUSG00000008855
AA Change: E608G

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: E589G

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000102768
Gene: ENSMUSG00000008855
AA Change: E589G

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 possibly damaging
Transcript: ENSMUST00000107151
AA Change: E590G

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102769
Gene: ENSMUSG00000008855
AA Change: E590G

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: E590G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102770
Gene: ENSMUSG00000008855
AA Change: E590G

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 probably benign
Transcript: ENSMUST00000131254
SMART Domains Protein: ENSMUSP00000118108
Gene: ENSMUSG00000008855

DomainStartEndE-ValueType
low complexity region 30 47 N/A INTRINSIC
Pfam:HDAC4_Gln 57 146 1.5e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136304
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137787
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155065
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: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 134 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T G 8: 87,244,118 (GRCm39) K1012Q possibly damaging Het
Afmid G A 11: 117,718,968 (GRCm39) G33R probably benign Het
Agbl3 G T 6: 34,776,131 (GRCm39) W207C probably damaging Het
Ajuba T C 14: 54,807,855 (GRCm39) Y459C probably damaging Het
Ak2 T C 4: 128,901,965 (GRCm39) S213P probably benign Het
Alk T A 17: 72,182,007 (GRCm39) N1339Y probably damaging Het
Angpt1 T C 15: 42,301,761 (GRCm39) S416G probably damaging Het
Ank2 C T 3: 126,775,582 (GRCm39) V854M probably benign Het
Ankrd61 G T 5: 143,828,482 (GRCm39) N122K possibly damaging Het
Armc9 T A 1: 86,126,011 (GRCm39) L34Q probably null Het
Aspg T A 12: 112,089,466 (GRCm39) V418E probably benign Het
Baz1b C T 5: 135,266,913 (GRCm39) R1241C probably damaging Het
Bclaf1 T C 10: 20,201,338 (GRCm39) V201A possibly damaging Het
C1ql3 A T 2: 13,009,169 (GRCm39) D225E probably damaging Het
Capn9 A G 8: 125,332,279 (GRCm39) T417A possibly damaging Het
Card14 C T 11: 119,208,115 (GRCm39) R62C probably damaging Het
Cc2d2a A G 5: 43,887,383 (GRCm39) N1271S probably benign Het
Ccpg1 G A 9: 72,920,326 (GRCm39) S647N probably benign Het
Cdv3 T C 9: 103,232,429 (GRCm39) K133R possibly damaging Het
Cep128 A C 12: 90,966,345 (GRCm39) S1087R probably benign Het
Cep70 T A 9: 99,163,128 (GRCm39) L325Q probably damaging Het
Chit1 T G 1: 134,077,192 (GRCm39) F332V probably damaging Het
Chodl C A 16: 78,743,585 (GRCm39) T219K probably damaging Het
Cntn4 T C 6: 106,158,765 (GRCm39) L10P possibly damaging Het
Copg1 G T 6: 87,867,189 (GRCm39) M87I possibly damaging Het
Cplane1 G A 15: 8,223,897 (GRCm39) G887R probably damaging Het
Cyp3a59 A G 5: 146,022,578 (GRCm39) Y28C probably benign Het
Dchs1 A C 7: 105,407,236 (GRCm39) V2119G probably damaging Het
Dedd T C 1: 171,165,951 (GRCm39) L23P probably damaging Het
Dmxl2 A G 9: 54,286,041 (GRCm39) S2715P probably benign Het
Dnah9 T C 11: 65,920,182 (GRCm39) N2237S probably damaging Het
Drosha A G 15: 12,842,207 (GRCm39) I337V probably benign Het
Duox2 A G 2: 122,125,617 (GRCm39) V330A probably benign Het
Dusp11 T C 6: 85,924,587 (GRCm39) *322W probably null Het
Dusp8 T A 7: 141,643,730 (GRCm39) Q61L possibly damaging Het
Ears2 G C 7: 121,643,600 (GRCm39) T426S probably benign Het
Elmo1 T C 13: 20,784,380 (GRCm39) Y646H probably benign Het
Eps15 T A 4: 109,178,422 (GRCm39) I220K possibly damaging Het
Faap100 T A 11: 120,268,458 (GRCm39) E105V possibly damaging Het
Fam171a2 C A 11: 102,328,693 (GRCm39) V689L possibly damaging Het
Fam91a1 G A 15: 58,320,243 (GRCm39) S645N probably benign Het
Fancg G A 4: 43,007,076 (GRCm39) Q234* probably null Het
Garre1 A G 7: 33,941,813 (GRCm39) F120L probably damaging Het
Gid4 T A 11: 60,323,268 (GRCm39) probably null Het
Gm7361 A C 5: 26,463,903 (GRCm39) T53P probably benign Het
Golgb1 T A 16: 36,732,677 (GRCm39) C641* probably null Het
Gon4l T A 3: 88,765,803 (GRCm39) M409K probably benign Het
Gpatch8 A T 11: 102,399,053 (GRCm39) probably null Het
Gpr156 T A 16: 37,768,671 (GRCm39) V64E possibly damaging Het
Grid2 T A 6: 63,908,089 (GRCm39) I243K probably damaging Het
Gucy2g G A 19: 55,203,548 (GRCm39) A750V probably damaging Het
Herc3 T A 6: 58,851,263 (GRCm39) M504K probably damaging Het
Hif1a A G 12: 73,990,867 (GRCm39) E713G probably benign Het
Hmx3 A G 7: 131,146,033 (GRCm39) D247G probably damaging Het
Hoxd11 G T 2: 74,513,163 (GRCm39) E143* probably null Het
Ifitm3 T C 7: 140,590,554 (GRCm39) N2S probably benign Het
Il17f T C 1: 20,848,181 (GRCm39) Q99R probably benign Het
Itga6 T A 2: 71,671,494 (GRCm39) S341R probably damaging Het
Itgam A G 7: 127,707,152 (GRCm39) N661S probably benign Het
Jag1 A T 2: 136,937,464 (GRCm39) H303Q possibly damaging Het
Kcnh8 T A 17: 53,033,023 (GRCm39) N103K probably benign Het
Kdm6b T C 11: 69,291,636 (GRCm39) probably benign Het
Keg1 A C 19: 12,691,902 (GRCm39) N63T probably damaging Het
Klf12 T A 14: 100,137,595 (GRCm39) H317L probably damaging Het
Lrp1 A T 10: 127,427,983 (GRCm39) V530E probably damaging Het
Mrgpra6 A G 7: 46,838,629 (GRCm39) C190R probably damaging Het
Myo1a G T 10: 127,541,766 (GRCm39) E102* probably null Het
Napa A T 7: 15,850,397 (GRCm39) E265D probably benign Het
Ncam1 A C 9: 49,476,174 (GRCm39) V305G probably damaging Het
Nek8 T C 11: 78,061,263 (GRCm39) probably null Het
Or10ag53 C T 2: 87,082,827 (GRCm39) P182L probably benign Het
Or11g24 T A 14: 50,662,846 (GRCm39) V290E possibly damaging Het
Or4a70 G T 2: 89,324,481 (GRCm39) Y58* probably null Het
Or4f52 T C 2: 111,061,539 (GRCm39) T200A probably benign Het
Or52a20 T C 7: 103,366,562 (GRCm39) F254L probably benign Het
Or5ak4 T C 2: 85,161,979 (GRCm39) T88A probably benign Het
Or5h23 T A 16: 58,906,253 (GRCm39) M198L probably benign Het
Or8c11 A T 9: 38,289,281 (GRCm39) I29F probably benign Het
Or8g2b A G 9: 39,751,126 (GRCm39) Y132C possibly damaging Het
Pabpc4 A G 4: 123,188,790 (GRCm39) Q417R probably benign Het
Panx3 A T 9: 37,580,320 (GRCm39) M11K probably damaging Het
Pcbp1 C T 6: 86,502,471 (GRCm39) E143K probably damaging Het
Pdcd7 G A 9: 65,265,974 (GRCm39) W477* probably null Het
Pi4k2a G A 19: 42,078,954 (GRCm39) S5N probably damaging Het
Plag1 T A 4: 3,904,075 (GRCm39) Q372L probably benign Het
Plce1 C A 19: 38,748,535 (GRCm39) N1755K probably damaging Het
Pld4 G T 12: 112,730,422 (GRCm39) E102* probably null Het
Pnlip A G 19: 58,668,039 (GRCm39) N345S probably benign Het
Ppm1e A T 11: 87,249,377 (GRCm39) L118Q possibly damaging Het
Prkra T G 2: 76,469,622 (GRCm39) T146P probably damaging Het
Prpf8 A G 11: 75,386,625 (GRCm39) D1038G probably damaging Het
Prss51 T A 14: 64,334,543 (GRCm39) V108E probably damaging Het
Prxl2b T A 4: 154,983,462 (GRCm39) M1L probably benign Het
Ptch1 A G 13: 63,692,857 (GRCm39) Y181H probably damaging Het
Reln A G 5: 22,244,527 (GRCm39) V817A probably benign Het
Rictor C A 15: 6,818,985 (GRCm39) Q1403K probably benign Het
Rims1 T A 1: 22,482,469 (GRCm39) I882F probably damaging Het
Rnf19a A G 15: 36,242,185 (GRCm39) V618A probably benign Het
Ryr1 A T 7: 28,816,841 (GRCm39) I65N probably damaging Het
S1pr2 T C 9: 20,878,890 (GRCm39) T313A probably benign Het
Serpine2 A T 1: 79,799,004 (GRCm39) Y83* probably null Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Het
Sgip1 T C 4: 102,772,256 (GRCm39) V215A probably benign Het
Sgsm3 T C 15: 80,892,200 (GRCm39) V256A probably benign Het
Shroom4 T A X: 6,497,523 (GRCm39) C894* probably null Het
Slc14a2 T A 18: 78,229,055 (GRCm39) D306V possibly damaging Het
Slc28a2b C A 2: 122,353,259 (GRCm39) L480I probably benign Het
Slc4a10 A T 2: 62,120,402 (GRCm39) E843V probably damaging Het
Smyd4 T A 11: 75,280,982 (GRCm39) C152S probably damaging Het
Snx10 T C 6: 51,552,952 (GRCm39) Y32H probably damaging Het
Sorl1 T C 9: 41,968,580 (GRCm39) T558A possibly damaging Het
Spata31d1b G A 13: 59,866,866 (GRCm39) C1338Y possibly damaging Het
Sppl2c T A 11: 104,078,127 (GRCm39) I309K possibly damaging Het
Stard9 A G 2: 120,531,111 (GRCm39) E2456G probably damaging Het
Stx1b A T 7: 127,414,575 (GRCm39) D16E probably benign Het
Tecpr2 T C 12: 110,881,887 (GRCm39) V152A probably damaging Het
Tedc1 T C 12: 113,120,302 (GRCm39) V47A probably benign Het
Tep1 A T 14: 51,105,774 (GRCm39) L82Q probably damaging Het
Tgm4 A G 9: 122,885,559 (GRCm39) Y367C probably damaging Het
Tle1 C T 4: 72,060,081 (GRCm39) V258M probably damaging Het
Tm9sf1 C T 14: 55,880,301 (GRCm39) G32D possibly damaging Het
Tmco2 A G 4: 120,963,181 (GRCm39) L106P probably damaging Het
Tmem131 A T 1: 36,911,639 (GRCm39) C103S possibly damaging Het
Tmprss7 T A 16: 45,489,891 (GRCm39) I444F possibly damaging Het
Trank1 T C 9: 111,191,470 (GRCm39) V493A probably benign Het
Trim80 A T 11: 115,338,843 (GRCm39) T558S probably benign Het
Trmt6 C A 2: 132,650,703 (GRCm39) A302S probably benign Het
Ttc17 A T 2: 94,133,985 (GRCm39) W1067R probably damaging Het
Tulp4 T A 17: 6,286,568 (GRCm39) V1532D probably damaging Het
Ubqlnl T G 7: 103,798,424 (GRCm39) I358L probably benign Het
Ulk3 T A 9: 57,498,023 (GRCm39) I108N possibly damaging Het
Vps13b A T 15: 35,640,674 (GRCm39) probably null Het
Vwa3a A G 7: 120,389,365 (GRCm39) K68E possibly damaging Het
Zfp746 G T 6: 48,041,110 (GRCm39) H538N possibly 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
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
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'- GAAAGCTTGCTCAAGGCCTG -3'
(R):5'- CAGACGGTGTTGCTTTCCTC -3'

Sequencing Primer
(F):5'- TGCTCAAGGCCTGGCAACTAC -3'
(R):5'- CTTACCAAAACTGGGGAGCTGTC -3'
Posted On 2016-08-04