Incidental Mutation 'R5033:Hdac9'
ID 389392
Institutional Source Beutler Lab
Gene Symbol Hdac9
Ensembl Gene ENSMUSG00000004698
Gene Name histone deacetylase 9
Synonyms HDRP, Mitr, Hdac7b, D030072B18Rik
MMRRC Submission 042624-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5033 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 34097579-34967094 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34423906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 587 (C587S)
Ref Sequence ENSEMBL: ENSMUSP00000148224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110819] [ENSMUST00000209667] [ENSMUST00000209750] [ENSMUST00000209902] [ENSMUST00000209990] [ENSMUST00000210724] [ENSMUST00000211752] [ENSMUST00000211107]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000110819
AA Change: C563S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106443
Gene: ENSMUSG00000004698
AA Change: C563S

DomainStartEndE-ValueType
Pfam:HDAC4_Gln 37 124 5.4e-36 PFAM
low complexity region 260 284 N/A INTRINSIC
low complexity region 370 382 N/A INTRINSIC
low complexity region 389 400 N/A INTRINSIC
low complexity region 464 480 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209667
AA Change: C519S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000209750
AA Change: C566S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000209902
AA Change: C563S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000209990
AA Change: C522S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000210724
Predicted Effect probably benign
Transcript: ENSMUST00000211752
AA Change: C587S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211107
AA Change: C535S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
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 has sequence homology to members of the histone deacetylase family. This gene is orthologous to the Xenopus and mouse MITR genes. The MITR protein lacks the histone deacetylase catalytic domain. It represses MEF2 activity through recruitment of multicomponent corepressor complexes that include CtBP and HDACs. This encoded protein may play a role in hematopoiesis. Multiple alternatively spliced transcripts have been described for this gene but the full-length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display age dependent cardiac hypertrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
9930111J21Rik1 G A 11: 48,838,533 (GRCm39) R685W probably damaging Het
Arhgap10 A T 8: 78,109,386 (GRCm39) L399H probably damaging Het
Arih2 AGCCG AG 9: 108,488,859 (GRCm39) probably benign Het
Atp13a2 A G 4: 140,728,132 (GRCm39) H575R possibly damaging Het
Bbof1 G A 12: 84,458,044 (GRCm39) probably null Het
Bltp3a A G 17: 28,105,838 (GRCm39) E788G probably damaging Het
Catsperg2 A C 7: 29,409,559 (GRCm39) Y545D possibly damaging Het
Cdc42bpa T A 1: 179,892,580 (GRCm39) I248N probably damaging Het
Cdk11b A T 4: 155,733,282 (GRCm39) probably benign Het
Cfap46 C A 7: 139,183,776 (GRCm39) L90F probably benign Het
Cndp2 A G 18: 84,688,954 (GRCm39) L276P possibly damaging Het
Col3a1 A C 1: 45,385,270 (GRCm39) D129A probably damaging Het
Daam1 C A 12: 71,993,294 (GRCm39) H354Q unknown Het
Dnah5 T A 15: 28,421,824 (GRCm39) F3892Y probably damaging Het
Dnajb3 A G 1: 88,132,745 (GRCm39) V219A possibly damaging Het
Drd5 A G 5: 38,477,544 (GRCm39) H179R probably damaging Het
Dym A G 18: 75,252,232 (GRCm39) N333D possibly damaging Het
Eif2b3 A G 4: 116,909,933 (GRCm39) D156G probably damaging Het
Emc1 A G 4: 139,099,007 (GRCm39) D830G probably damaging Het
F13a1 A C 13: 37,172,830 (GRCm39) I183M probably damaging Het
Fam136b-ps T A 15: 31,277,043 (GRCm39) probably benign Het
Fdft1 C A 14: 63,400,853 (GRCm39) K93N probably damaging Het
Garre1 C T 7: 33,945,237 (GRCm39) G336S probably benign Het
Gcc2 A G 10: 58,114,628 (GRCm39) D959G probably damaging Het
Gp2 A G 7: 119,053,514 (GRCm39) V149A probably damaging Het
Gpc1 G A 1: 92,784,751 (GRCm39) G308D probably damaging Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Iars2 A G 1: 185,050,125 (GRCm39) V453A possibly damaging Het
Il1r1 T G 1: 40,332,684 (GRCm39) C121W probably damaging Het
Inhca A G 9: 103,156,613 (GRCm39) V149A probably benign Het
Jazf1 A G 6: 52,754,525 (GRCm39) Y184H probably damaging Het
Kel A T 6: 41,675,989 (GRCm39) Y234N probably damaging Het
Khk G A 5: 31,087,004 (GRCm39) G186D probably damaging Het
Klf4 A T 4: 55,530,301 (GRCm39) M270K probably benign Het
Kmt2c G A 5: 25,519,706 (GRCm39) L2135F probably benign Het
Krtap15-1 A G 16: 88,626,044 (GRCm39) Y37C probably damaging Het
Lars1 A G 18: 42,347,841 (GRCm39) F994S possibly damaging Het
Ldc1 C T 4: 130,115,408 (GRCm39) probably null Het
Lrp8 T C 4: 107,691,952 (GRCm39) probably null Het
Lrrc2 A T 9: 110,809,987 (GRCm39) D341V probably damaging Het
Map4k4 A G 1: 40,046,662 (GRCm39) K646R probably damaging Het
Mrps9 T A 1: 42,934,491 (GRCm39) probably null Het
Or10ag60 T A 2: 87,438,055 (GRCm39) C108S probably damaging Het
Or11h6 T A 14: 50,880,619 (GRCm39) Y288N probably damaging Het
Or8c20 C T 9: 38,260,924 (GRCm39) H176Y probably damaging Het
Pcnt A T 10: 76,235,779 (GRCm39) C1401S possibly damaging Het
Pdgfrb A T 18: 61,210,740 (GRCm39) K749M probably damaging Het
Pigo A T 4: 43,019,412 (GRCm39) W969R probably null Het
Pigr A T 1: 130,772,436 (GRCm39) Y218F probably damaging Het
Pih1d1 A G 7: 44,804,278 (GRCm39) probably benign Het
Pik3cg A T 12: 32,249,195 (GRCm39) probably null Het
Pik3r6 A T 11: 68,424,294 (GRCm39) K300* probably null Het
Pip5k1c A G 10: 81,141,084 (GRCm39) D64G probably damaging Het
Piwil2 A T 14: 70,659,042 (GRCm39) I161K possibly damaging Het
Pou3f1 A G 4: 124,552,449 (GRCm39) E317G probably damaging Het
Prdm8 C T 5: 98,333,071 (GRCm39) Q213* probably null Het
Prpf6 T A 2: 181,291,899 (GRCm39) C739S possibly damaging Het
Psmc3 T A 2: 90,884,953 (GRCm39) S40T probably benign Het
Psmd3 A T 11: 98,573,650 (GRCm39) D32V probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rapgef6 A T 11: 54,582,207 (GRCm39) H1373L possibly damaging Het
Rnf207 A C 4: 152,397,666 (GRCm39) S328A probably benign Het
Ros1 C T 10: 52,004,512 (GRCm39) probably null Het
Ryr2 T A 13: 11,602,140 (GRCm39) I4581F possibly damaging Het
Sacm1l C T 9: 123,415,464 (GRCm39) R480W probably damaging Het
Sec16a A G 2: 26,309,661 (GRCm39) V664A probably benign Het
Selenoo T A 15: 88,976,969 (GRCm39) M207K probably damaging Het
Sh3tc2 G A 18: 62,147,962 (GRCm39) probably null Het
Slc28a2b T A 2: 122,353,395 (GRCm39) probably null Het
Slco2b1 G T 7: 99,309,256 (GRCm39) Q692K probably benign Het
Slfn4 A T 11: 83,077,623 (GRCm39) D137V probably damaging Het
Srrm2 G A 17: 24,039,592 (GRCm39) A2175T probably damaging Het
Stard9 T A 2: 120,523,880 (GRCm39) C692S probably benign Het
Sulf2 T A 2: 165,923,542 (GRCm39) D559V probably benign Het
Tbpl2 T C 2: 23,977,170 (GRCm39) I283V probably benign Het
Tmem19 A G 10: 115,195,666 (GRCm39) F46S probably benign Het
Trp63 T A 16: 25,582,056 (GRCm39) Y35N probably damaging Het
Ttn T A 2: 76,716,786 (GRCm39) probably benign Het
Ube2z A T 11: 95,941,148 (GRCm39) H331Q probably benign Het
Ubr1 C T 2: 120,742,478 (GRCm39) probably null Het
Vmn1r235 A T 17: 21,482,550 (GRCm39) I292F possibly damaging Het
Vmn2r1 T A 3: 64,012,501 (GRCm39) D787E probably damaging Het
Vmn2r3 A G 3: 64,167,220 (GRCm39) V637A probably benign Het
Xpnpep1 C A 19: 52,994,606 (GRCm39) V341L probably benign Het
Yme1l1 A G 2: 23,084,759 (GRCm39) D619G probably damaging Het
Zfp597 G A 16: 3,684,502 (GRCm39) P85S probably damaging Het
Zscan20 A G 4: 128,479,921 (GRCm39) S857P probably benign Het
Other mutations in Hdac9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Hdac9 APN 12 34,479,488 (GRCm39) splice site probably benign
IGL01484:Hdac9 APN 12 34,487,164 (GRCm39) missense probably damaging 1.00
IGL02010:Hdac9 APN 12 34,481,944 (GRCm39) missense probably damaging 1.00
IGL02059:Hdac9 APN 12 34,481,967 (GRCm39) missense probably damaging 0.97
IGL02276:Hdac9 APN 12 34,481,925 (GRCm39) missense probably damaging 1.00
IGL02797:Hdac9 APN 12 34,443,273 (GRCm39) splice site probably benign
IGL03202:Hdac9 APN 12 34,423,950 (GRCm39) missense probably damaging 1.00
PIT4468001:Hdac9 UTSW 12 34,145,933 (GRCm39) missense unknown
R0304:Hdac9 UTSW 12 34,424,110 (GRCm39) missense probably damaging 1.00
R0432:Hdac9 UTSW 12 34,487,221 (GRCm39) missense probably damaging 1.00
R0659:Hdac9 UTSW 12 34,487,221 (GRCm39) missense probably damaging 1.00
R1826:Hdac9 UTSW 12 34,479,491 (GRCm39) splice site probably benign
R1879:Hdac9 UTSW 12 34,440,332 (GRCm39) missense probably damaging 0.98
R1942:Hdac9 UTSW 12 34,479,544 (GRCm39) missense probably damaging 1.00
R2113:Hdac9 UTSW 12 34,439,331 (GRCm39) missense probably damaging 1.00
R2151:Hdac9 UTSW 12 34,440,255 (GRCm39) missense probably damaging 1.00
R2216:Hdac9 UTSW 12 34,479,516 (GRCm39) missense probably damaging 1.00
R2224:Hdac9 UTSW 12 34,457,801 (GRCm39) missense probably benign 0.09
R2225:Hdac9 UTSW 12 34,457,801 (GRCm39) missense probably benign 0.09
R2227:Hdac9 UTSW 12 34,457,801 (GRCm39) missense probably benign 0.09
R3500:Hdac9 UTSW 12 34,487,352 (GRCm39) missense probably benign 0.01
R4441:Hdac9 UTSW 12 34,439,375 (GRCm39) missense probably damaging 1.00
R4674:Hdac9 UTSW 12 34,423,959 (GRCm39) missense possibly damaging 0.96
R4694:Hdac9 UTSW 12 34,487,246 (GRCm39) missense probably damaging 1.00
R5229:Hdac9 UTSW 12 34,487,163 (GRCm39) missense probably damaging 1.00
R5353:Hdac9 UTSW 12 34,443,392 (GRCm39) nonsense probably null
R5384:Hdac9 UTSW 12 34,479,557 (GRCm39) missense probably damaging 1.00
R5958:Hdac9 UTSW 12 34,423,882 (GRCm39) missense probably damaging 0.97
R6129:Hdac9 UTSW 12 34,337,474 (GRCm39) missense probably damaging 1.00
R6157:Hdac9 UTSW 12 34,439,428 (GRCm39) missense probably damaging 1.00
R6248:Hdac9 UTSW 12 34,578,293 (GRCm39) missense possibly damaging 0.79
R6333:Hdac9 UTSW 12 34,102,323 (GRCm39) missense probably damaging 0.98
R6474:Hdac9 UTSW 12 34,481,990 (GRCm39) critical splice acceptor site probably null
R6589:Hdac9 UTSW 12 34,265,028 (GRCm39) missense probably damaging 1.00
R6737:Hdac9 UTSW 12 34,265,451 (GRCm39) missense probably damaging 1.00
R6767:Hdac9 UTSW 12 34,337,528 (GRCm39) missense probably damaging 1.00
R6837:Hdac9 UTSW 12 34,337,463 (GRCm39) missense probably benign 0.12
R6857:Hdac9 UTSW 12 34,443,362 (GRCm39) missense probably benign 0.37
R7069:Hdac9 UTSW 12 34,479,548 (GRCm39) missense possibly damaging 0.92
R7237:Hdac9 UTSW 12 34,424,139 (GRCm39) critical splice acceptor site probably null
R7768:Hdac9 UTSW 12 34,440,239 (GRCm39) missense possibly damaging 0.81
R7917:Hdac9 UTSW 12 34,483,209 (GRCm39) missense probably benign 0.31
R7974:Hdac9 UTSW 12 34,353,219 (GRCm39) missense possibly damaging 0.87
R7990:Hdac9 UTSW 12 34,265,452 (GRCm39) missense probably benign 0.05
R8489:Hdac9 UTSW 12 34,487,180 (GRCm39) missense probably damaging 1.00
R8683:Hdac9 UTSW 12 34,440,220 (GRCm39) missense probably damaging 1.00
R9208:Hdac9 UTSW 12 34,220,101 (GRCm39) missense probably benign 0.01
R9397:Hdac9 UTSW 12 34,353,275 (GRCm39) missense probably damaging 0.99
R9431:Hdac9 UTSW 12 34,440,327 (GRCm39) nonsense probably null
R9629:Hdac9 UTSW 12 34,439,389 (GRCm39) missense probably damaging 0.99
R9646:Hdac9 UTSW 12 34,487,167 (GRCm39) missense probably damaging 1.00
R9709:Hdac9 UTSW 12 34,362,602 (GRCm39) missense probably benign 0.21
Z1088:Hdac9 UTSW 12 34,457,788 (GRCm39) missense probably damaging 1.00
Z1176:Hdac9 UTSW 12 34,423,986 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATGAATCCTGATACCCATTCAGAG -3'
(R):5'- CCACCTTGAAGAAGCAGAGG -3'

Sequencing Primer
(F):5'- CCCATTCAGAGATCAGTATAGAGTG -3'
(R):5'- GAGGAGCTTCAGGGGGAC -3'
Posted On 2016-06-06