Incidental Mutation 'R2518:Hdac5'
ID 254095
Institutional Source Beutler Lab
Gene Symbol Hdac5
Ensembl Gene ENSMUSG00000008855
Gene Name histone deacetylase 5
Synonyms mHDA1
MMRRC Submission 040422-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2518 (G1)
Quality Score 185
Status Not validated
Chromosome 11
Chromosomal Location 102085244-102120968 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102087962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 949 (V949A)
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: V967A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000008999
Gene: ENSMUSG00000008855
AA Change: V967A

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: V948A

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102768
Gene: ENSMUSG00000008855
AA Change: V948A

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: V864A

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102769
Gene: ENSMUSG00000008855
AA Change: V864A

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: V949A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102770
Gene: ENSMUSG00000008855
AA Change: V949A

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 noncoding transcript
Transcript: ENSMUST00000140481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136304
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137787
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133651
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139995
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124594
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145490
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
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 noncoding transcript
Transcript: ENSMUST00000149087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155065
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153178
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 A G 8: 25,127,157 (GRCm39) C480R probably damaging Het
Aftph G T 11: 20,675,797 (GRCm39) T604K probably damaging Het
Bivm T C 1: 44,168,775 (GRCm39) V279A probably damaging Het
C2cd2 G A 16: 97,723,286 (GRCm39) T77I probably benign Het
Ccdc146 T C 5: 21,510,526 (GRCm39) H527R probably benign Het
Cd226 A G 18: 89,225,451 (GRCm39) N116S probably benign Het
Cit A G 5: 116,125,105 (GRCm39) K1612E probably damaging Het
Cmtr1 T A 17: 29,900,954 (GRCm39) Y663* probably null Het
Col3a1 T A 1: 45,376,672 (GRCm39) probably benign Het
Copa A G 1: 171,947,468 (GRCm39) N1095D probably benign Het
Cpne1 G T 2: 155,915,891 (GRCm39) A433E probably damaging Het
Cyfip1 C T 7: 55,578,032 (GRCm39) L1181F probably damaging Het
Dnajc6 T A 4: 101,470,127 (GRCm39) I220N probably damaging Het
Duxbl1 G C 14: 25,988,172 (GRCm39) probably benign Het
Fam135b C T 15: 71,335,760 (GRCm39) R478H probably benign Het
Fam91a1 T A 15: 58,322,449 (GRCm39) S734T possibly damaging Het
Fut10 T G 8: 31,726,495 (GRCm39) S417A probably benign Het
Gm9945 C T 11: 53,371,163 (GRCm39) probably benign Het
Golga4 A G 9: 118,385,680 (GRCm39) E934G probably damaging Het
Gpat2 G A 2: 127,270,211 (GRCm39) V75M probably damaging Het
Hdgfl1 G T 13: 26,953,732 (GRCm39) L114I probably benign Het
Ifi27l2b T A 12: 103,422,083 (GRCm39) M94L unknown Het
Irs2 C A 8: 11,055,352 (GRCm39) A1027S probably benign Het
Itga2 A T 13: 115,017,578 (GRCm39) C111S probably damaging Het
Khdrbs1 T C 4: 129,614,540 (GRCm39) T338A probably benign Het
Klk1 T C 7: 43,870,161 (GRCm39) probably null Het
Kmt2b T C 7: 30,275,493 (GRCm39) N1822S probably benign Het
Lrig3 T C 10: 125,830,310 (GRCm39) I136T probably benign Het
Lyar T A 5: 38,385,276 (GRCm39) D105E probably benign Het
Mat1a T A 14: 40,844,469 (GRCm39) D366E probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Naip1 A T 13: 100,559,727 (GRCm39) D1092E probably benign Het
Neb T A 2: 52,139,523 (GRCm39) K95* probably null Het
Nectin4 A G 1: 171,207,776 (GRCm39) D56G probably benign Het
Nup58 A T 14: 60,470,109 (GRCm39) F334Y probably damaging Het
Or14a256 A T 7: 86,265,395 (GRCm39) F153I probably benign Het
Or9i1 A G 19: 13,839,673 (GRCm39) N172S probably damaging Het
Pde8a C A 7: 80,967,170 (GRCm39) T437K probably benign Het
Ppp1r3a A T 6: 14,719,377 (GRCm39) N512K possibly damaging Het
Pramel12 A G 4: 143,144,473 (GRCm39) Q273R possibly damaging Het
Rad51ap2 A G 12: 11,507,068 (GRCm39) D330G probably damaging Het
Ren1 G A 1: 133,287,862 (GRCm39) A399T probably damaging Het
Rnft2 G T 5: 118,332,670 (GRCm39) probably benign Het
Septin14 A T 5: 129,776,099 (GRCm39) S27T probably benign Het
Shld1 T A 2: 132,592,447 (GRCm39) S165T probably damaging Het
Shox2 T C 3: 66,885,692 (GRCm39) K128E possibly damaging Het
Skint1 T C 4: 111,882,678 (GRCm39) W241R probably benign Het
Slc24a4 T A 12: 102,188,310 (GRCm39) H134Q probably benign Het
Slc25a36 A T 9: 96,961,124 (GRCm39) L165Q possibly damaging Het
Slc35f1 A G 10: 52,949,630 (GRCm39) I240V probably benign Het
Slc66a1 A G 4: 139,029,810 (GRCm39) F74L probably damaging Het
Tab2 G A 10: 7,783,245 (GRCm39) P679L probably damaging Het
Tarbp2 A G 15: 102,426,992 (GRCm39) E3G possibly damaging Het
Tas2r130 A T 6: 131,607,036 (GRCm39) I253K probably damaging Het
Timm44 A C 8: 4,316,588 (GRCm39) C319G probably null Het
Tjap1 A T 17: 46,571,021 (GRCm39) N165K probably damaging Het
Tmem63b A G 17: 45,977,080 (GRCm39) I429T probably benign Het
Trabd2b A T 4: 114,457,100 (GRCm39) D339V probably damaging Het
Tst T C 15: 78,290,033 (GRCm39) M1V probably null Het
Ube4a A T 9: 44,859,435 (GRCm39) N335K probably benign Het
Vps54 C T 11: 21,256,394 (GRCm39) T633M probably benign Het
Zfhx4 C T 3: 5,468,418 (GRCm39) P2859S probably benign Het
Zfp953 A G 13: 67,496,003 (GRCm39) Y13H 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
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
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'- CAAGATGGCTCTAAGTCTTGCTC -3'
(R):5'- GTGGAATACCTGACAGCCTTC -3'

Sequencing Primer
(F):5'- AAGTCTTGCTCCCTGTAATGCTAAC -3'
(R):5'- CCTTCAGGTGGGGACTGAG -3'
Posted On 2014-12-04