Incidental Mutation 'IGL02797:Hdac9'
ID 360026
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hdac9
Ensembl Gene ENSMUSG00000004698
Gene Name histone deacetylase 9
Synonyms HDRP, Mitr, Hdac7b, D030072B18Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02797
Quality Score
Status
Chromosome 12
Chromosomal Location 34097579-34967094 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 34443273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000106443
Gene: ENSMUSG00000004698

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
Predicted Effect probably benign
Transcript: ENSMUST00000209750
Predicted Effect probably benign
Transcript: ENSMUST00000209902
Predicted Effect probably benign
Transcript: ENSMUST00000209990
Predicted Effect probably benign
Transcript: ENSMUST00000210724
Predicted Effect probably benign
Transcript: ENSMUST00000211752
Predicted Effect probably benign
Transcript: ENSMUST00000211107
Coding Region Coverage
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,187,214 (GRCm39) M924T probably benign Het
Afg2a A G 3: 37,512,465 (GRCm39) probably benign Het
B3gat2 A G 1: 23,854,360 (GRCm39) Y218C probably damaging Het
Bcs1l T C 1: 74,629,620 (GRCm39) probably null Het
Cd109 T A 9: 78,568,995 (GRCm39) I358N probably damaging Het
Cd276 T C 9: 58,444,719 (GRCm39) D84G possibly damaging Het
Chsy1 T C 7: 65,821,412 (GRCm39) F549S probably damaging Het
Clca3a2 T C 3: 144,787,024 (GRCm39) N549S probably benign Het
Cma1 A G 14: 56,181,271 (GRCm39) S32P possibly damaging Het
Col23a1 G A 11: 51,452,743 (GRCm39) probably null Het
Ctps1 A T 4: 120,420,021 (GRCm39) I131K probably benign Het
Cyp2w1 T C 5: 139,342,628 (GRCm39) L441P probably damaging Het
Dnajc21 A G 15: 10,461,441 (GRCm39) Y170H probably damaging Het
Eif3a A T 19: 60,761,164 (GRCm39) L648Q probably damaging Het
Eif3l T A 15: 78,959,477 (GRCm39) D6E probably benign Het
Fam228a A T 12: 4,781,484 (GRCm39) L125Q probably damaging Het
Foxa2 A G 2: 147,886,045 (GRCm39) C263R possibly damaging Het
Gm17455 A G 10: 60,239,107 (GRCm39) E124G possibly damaging Het
Gpc6 T G 14: 117,163,394 (GRCm39) L16R probably damaging Het
Herc3 A G 6: 58,845,679 (GRCm39) N400S probably benign Het
Herc4 G A 10: 63,152,586 (GRCm39) probably null Het
Il12b A G 11: 44,301,180 (GRCm39) probably null Het
Lama4 A G 10: 38,932,920 (GRCm39) R599G probably null Het
Lrp1b T A 2: 41,561,069 (GRCm39) E286V Het
Mink1 C T 11: 70,501,176 (GRCm39) P784S probably damaging Het
Musk T C 4: 58,366,921 (GRCm39) F513S probably benign Het
Nfasc T A 1: 132,538,186 (GRCm39) D474V probably damaging Het
Nhsl3 C T 4: 129,117,104 (GRCm39) R565H probably damaging Het
Nos2 T G 11: 78,831,170 (GRCm39) F420V probably damaging Het
Or52ab2 A T 7: 102,970,058 (GRCm39) I147L probably benign Het
Pcdhb14 A G 18: 37,582,904 (GRCm39) Y670C probably damaging Het
Polr1b A G 2: 128,944,899 (GRCm39) E65G probably damaging Het
Ppp1r10 T G 17: 36,238,904 (GRCm39) probably null Het
Prag1 C T 8: 36,606,655 (GRCm39) R799C probably damaging Het
Prb1c T A 6: 132,340,008 (GRCm39) probably null Het
Ptch1 T C 13: 63,681,421 (GRCm39) N485S probably benign Het
Rgsl1 T C 1: 153,683,454 (GRCm39) T19A probably damaging Het
Sgpl1 A C 10: 60,937,507 (GRCm39) S507A probably benign Het
Sgpp2 A G 1: 78,393,819 (GRCm39) D274G probably benign Het
Skap1 A G 11: 96,603,843 (GRCm39) D211G possibly damaging Het
Smc3 A G 19: 53,627,189 (GRCm39) T830A probably benign Het
Smpd2 G A 10: 41,364,074 (GRCm39) T215I possibly damaging Het
Sntg2 T G 12: 30,276,891 (GRCm39) Y387S possibly damaging Het
Sorl1 T G 9: 41,948,355 (GRCm39) D810A probably damaging Het
Spop T A 11: 95,372,909 (GRCm39) I217N probably damaging Het
Stac2 T C 11: 97,934,345 (GRCm39) R120G possibly damaging Het
Stau1 A T 2: 166,791,266 (GRCm39) *496R probably null Het
Tmeff2 C T 1: 50,967,206 (GRCm39) R34C probably damaging Het
Treml2 C T 17: 48,609,739 (GRCm39) A57V possibly damaging Het
Vmn2r15 T C 5: 109,445,250 (GRCm39) D58G probably benign Het
Vmn2r7 T C 3: 64,598,666 (GRCm39) I721M possibly damaging Het
Vmn2r70 C A 7: 85,208,295 (GRCm39) M727I probably benign Het
Vwa8 T A 14: 79,162,702 (GRCm39) C161S 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
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
R5033:Hdac9 UTSW 12 34,423,906 (GRCm39) missense probably benign
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
Posted On 2015-12-18