Incidental Mutation 'R2189:Hdac4'
ID 237951
Institutional Source Beutler Lab
Gene Symbol Hdac4
Ensembl Gene ENSMUSG00000026313
Gene Name histone deacetylase 4
Synonyms 4932408F19Rik
MMRRC Submission 040191-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2189 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 91856501-92123421 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91903244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 562 (S562G)
Ref Sequence ENSEMBL: ENSMUSP00000095249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008995] [ENSMUST00000097644] [ENSMUST00000187308]
AlphaFold Q6NZM9
Predicted Effect probably null
Transcript: ENSMUST00000008995
AA Change: S562G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000008995
Gene: ENSMUSG00000026313
AA Change: S562G

DomainStartEndE-ValueType
Pfam:HDAC4_Gln 61 151 5e-38 PFAM
low complexity region 289 310 N/A INTRINSIC
low complexity region 354 368 N/A INTRINSIC
low complexity region 472 502 N/A INTRINSIC
low complexity region 517 529 N/A INTRINSIC
low complexity region 558 575 N/A INTRINSIC
Pfam:Hist_deacetyl 661 985 1.4e-85 PFAM
low complexity region 1066 1075 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000097644
AA Change: S562G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000187308
SMART Domains Protein: ENSMUSP00000140092
Gene: ENSMUSG00000026313

DomainStartEndE-ValueType
Pfam:Hist_deacetyl 93 313 2.3e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189303
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194827
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
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 class II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased thermal nociception threshold and seizures. Mice homozygous for a knock-out allele exhibit postnatal lethality, exencephaly, and abnormal skeleton morphology and physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan G C 7: 78,747,839 (GRCm39) G870A probably damaging Het
Adamtsl2 T C 2: 26,971,750 (GRCm39) W12R probably benign Het
Bsph1 G A 7: 13,204,254 (GRCm39) probably null Het
Celsr1 G T 15: 85,863,431 (GRCm39) H1200Q possibly damaging Het
Clptm1 A T 7: 19,371,070 (GRCm39) Y355* probably null Het
Cry2 T C 2: 92,242,037 (GRCm39) E572G possibly damaging Het
Dlk1 G A 12: 109,420,975 (GRCm39) probably null Het
Eral1 A G 11: 77,966,657 (GRCm39) V201A probably benign Het
Esrp1 A T 4: 11,357,603 (GRCm39) M503K probably benign Het
Fam83e G T 7: 45,371,607 (GRCm39) M1I probably null Het
Flt4 G A 11: 49,526,525 (GRCm39) A835T probably benign Het
H2bc15 A G 13: 21,938,447 (GRCm39) D52G probably damaging Het
Icosl A G 10: 77,909,759 (GRCm39) T235A possibly damaging Het
Itga6 A G 2: 71,655,961 (GRCm39) D295G probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lipa A T 19: 34,502,199 (GRCm39) L15Q probably benign Het
Mcc T C 18: 44,667,297 (GRCm39) E218G possibly damaging Het
Mdga2 A G 12: 66,519,970 (GRCm39) probably null Het
Mmadhc A C 2: 50,178,958 (GRCm39) C153W probably damaging Het
Myh1 A G 11: 67,112,430 (GRCm39) D1799G probably damaging Het
Nlrp1b T A 11: 71,060,621 (GRCm39) Q729L probably damaging Het
Ofcc1 T A 13: 40,333,924 (GRCm39) Q389L probably benign Het
Or52b2 A G 7: 104,986,809 (GRCm39) V38A probably benign Het
Or5m5 A G 2: 85,814,412 (GRCm39) D76G probably damaging Het
Or5p4 A T 7: 107,680,243 (GRCm39) M81L possibly damaging Het
Or5p50 T C 7: 107,421,822 (GRCm39) I285V probably benign Het
Pml T C 9: 58,142,157 (GRCm39) N225S probably benign Het
Rnf213 A G 11: 119,321,187 (GRCm39) E1215G probably benign Het
Scap T A 9: 110,206,761 (GRCm39) I402N probably damaging Het
Sgsm2 A G 11: 74,743,908 (GRCm39) L886P probably damaging Het
Sugct T C 13: 17,836,851 (GRCm39) I104V probably benign Het
Tmem200c A G 17: 69,147,681 (GRCm39) Q88R probably damaging Het
Tnfrsf1a T A 6: 125,334,768 (GRCm39) L14Q probably benign Het
Tnk2 C T 16: 32,490,239 (GRCm39) L381F probably damaging Het
Ubr2 C T 17: 47,254,290 (GRCm39) V1454I probably benign Het
V1ra8 A C 6: 90,179,944 (GRCm39) D49A probably damaging Het
Vmn2r5 A C 3: 64,417,014 (GRCm39) M48R probably benign Het
Yars1 A G 4: 129,099,982 (GRCm39) I227V probably damaging Het
Zfp850 C A 7: 27,688,480 (GRCm39) R576L probably benign Het
Zfpm2 T A 15: 40,964,579 (GRCm39) F223I possibly damaging Het
Other mutations in Hdac4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Hdac4 APN 1 91,887,137 (GRCm39) missense probably damaging 0.99
IGL01396:Hdac4 APN 1 91,887,196 (GRCm39) splice site probably benign
IGL01536:Hdac4 APN 1 91,857,868 (GRCm39) utr 3 prime probably benign
IGL01860:Hdac4 APN 1 91,861,417 (GRCm39) missense probably benign 0.31
IGL02110:Hdac4 APN 1 91,912,127 (GRCm39) missense probably benign 0.00
IGL02201:Hdac4 APN 1 91,915,382 (GRCm39) splice site probably null
IGL02294:Hdac4 APN 1 91,909,929 (GRCm39) missense probably benign
IGL02367:Hdac4 APN 1 91,886,171 (GRCm39) splice site probably benign
IGL02429:Hdac4 APN 1 91,940,417 (GRCm39) missense probably benign 0.00
IGL02966:Hdac4 APN 1 91,982,667 (GRCm39) missense possibly damaging 0.94
IGL03250:Hdac4 APN 1 91,862,322 (GRCm39) critical splice donor site probably null
R0067:Hdac4 UTSW 1 91,957,706 (GRCm39) missense probably damaging 1.00
R0103:Hdac4 UTSW 1 91,903,366 (GRCm39) missense possibly damaging 0.73
R0288:Hdac4 UTSW 1 91,898,728 (GRCm39) missense probably damaging 1.00
R0334:Hdac4 UTSW 1 91,883,760 (GRCm39) splice site probably benign
R1473:Hdac4 UTSW 1 91,957,690 (GRCm39) missense possibly damaging 0.88
R1732:Hdac4 UTSW 1 91,875,257 (GRCm39) missense probably benign 0.01
R1826:Hdac4 UTSW 1 91,912,421 (GRCm39) missense probably damaging 1.00
R1987:Hdac4 UTSW 1 91,862,367 (GRCm39) missense probably damaging 1.00
R2384:Hdac4 UTSW 1 91,912,207 (GRCm39) missense probably benign 0.02
R3705:Hdac4 UTSW 1 91,862,416 (GRCm39) splice site probably benign
R3894:Hdac4 UTSW 1 91,898,690 (GRCm39) missense possibly damaging 0.95
R4440:Hdac4 UTSW 1 91,873,717 (GRCm39) missense probably damaging 1.00
R5075:Hdac4 UTSW 1 91,923,842 (GRCm39) missense probably benign 0.00
R5431:Hdac4 UTSW 1 91,900,512 (GRCm39) nonsense probably null
R5505:Hdac4 UTSW 1 91,903,187 (GRCm39) missense probably benign
R5854:Hdac4 UTSW 1 91,887,143 (GRCm39) missense probably damaging 1.00
R6018:Hdac4 UTSW 1 91,886,120 (GRCm39) missense probably damaging 1.00
R6164:Hdac4 UTSW 1 91,957,876 (GRCm39) missense probably benign 0.04
R6239:Hdac4 UTSW 1 91,982,694 (GRCm39) missense probably benign 0.17
R6247:Hdac4 UTSW 1 91,940,560 (GRCm39) splice site probably null
R6306:Hdac4 UTSW 1 91,923,896 (GRCm39) missense probably benign 0.00
R6381:Hdac4 UTSW 1 91,912,247 (GRCm39) missense possibly damaging 0.67
R6450:Hdac4 UTSW 1 91,912,433 (GRCm39) missense possibly damaging 0.81
R6504:Hdac4 UTSW 1 91,896,177 (GRCm39) missense possibly damaging 0.88
R6639:Hdac4 UTSW 1 91,898,670 (GRCm39) missense probably damaging 1.00
R6799:Hdac4 UTSW 1 91,929,935 (GRCm39) missense probably damaging 0.98
R6910:Hdac4 UTSW 1 91,909,875 (GRCm39) missense probably damaging 1.00
R7002:Hdac4 UTSW 1 91,896,083 (GRCm39) missense possibly damaging 0.85
R7781:Hdac4 UTSW 1 91,903,387 (GRCm39) missense probably benign 0.41
R7966:Hdac4 UTSW 1 91,861,402 (GRCm39) missense possibly damaging 0.71
R8156:Hdac4 UTSW 1 91,886,138 (GRCm39) missense probably damaging 0.99
R8732:Hdac4 UTSW 1 91,875,239 (GRCm39) missense probably damaging 1.00
R8957:Hdac4 UTSW 1 91,873,757 (GRCm39) critical splice acceptor site probably null
R9129:Hdac4 UTSW 1 91,909,929 (GRCm39) missense probably benign
R9167:Hdac4 UTSW 1 91,875,256 (GRCm39) missense probably benign 0.35
R9243:Hdac4 UTSW 1 91,900,512 (GRCm39) missense probably benign 0.14
R9243:Hdac4 UTSW 1 91,900,511 (GRCm39) missense probably damaging 0.98
R9255:Hdac4 UTSW 1 91,889,173 (GRCm39) critical splice donor site probably null
R9503:Hdac4 UTSW 1 91,929,956 (GRCm39) missense probably damaging 0.96
R9600:Hdac4 UTSW 1 91,889,277 (GRCm39) missense probably damaging 0.99
Z1177:Hdac4 UTSW 1 91,915,333 (GRCm39) missense probably damaging 0.96
Z1177:Hdac4 UTSW 1 91,883,769 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATCCTCGTGTACCTGAGAGTG -3'
(R):5'- TCCGCATTGCAGATAATCTCC -3'

Sequencing Primer
(F):5'- CTCGTGTACCTGAGAGTGTACAAC -3'
(R):5'- TGCAGATAATCTCCAAACCTAGTGAG -3'
Posted On 2014-10-02