Incidental Mutation 'IGL01396:Hdac4'
ID 79471
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hdac4
Ensembl Gene ENSMUSG00000026313
Gene Name histone deacetylase 4
Synonyms 4932408F19Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01396
Quality Score
Status
Chromosome 1
Chromosomal Location 91856501-92123421 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 91887196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008995] [ENSMUST00000097644] [ENSMUST00000187308]
AlphaFold Q6NZM9
Predicted Effect probably benign
Transcript: ENSMUST00000008995
SMART Domains Protein: ENSMUSP00000008995
Gene: ENSMUSG00000026313

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 benign
Transcript: ENSMUST00000097644
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
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 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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T A 5: 88,120,649 (GRCm39) Y469N probably benign Het
Actl11 T C 9: 107,805,964 (GRCm39) S96P possibly damaging Het
Ankrd13b T A 11: 77,363,198 (GRCm39) probably null Het
Apobec4 T A 1: 152,632,017 (GRCm39) I15K probably damaging Het
Arhgef28 G T 13: 98,090,401 (GRCm39) D1039E probably damaging Het
Atp1a1 C T 3: 101,498,769 (GRCm39) G175R probably damaging Het
AU040320 T A 4: 126,763,171 (GRCm39) probably benign Het
Bcl9l G A 9: 44,418,121 (GRCm39) R653H probably damaging Het
Ccdc141 T A 2: 76,958,669 (GRCm39) I144L possibly damaging Het
Cdh20 C T 1: 104,875,154 (GRCm39) T312I possibly damaging Het
Cdh23 C T 10: 60,220,848 (GRCm39) V1297I possibly damaging Het
Cfap57 T C 4: 118,467,792 (GRCm39) Y315C probably damaging Het
Chd8 A G 14: 52,442,044 (GRCm39) probably benign Het
Cog5 A G 12: 31,944,095 (GRCm39) D660G probably benign Het
Cps1 T C 1: 67,196,945 (GRCm39) I332T probably damaging Het
Csgalnact2 T C 6: 118,103,288 (GRCm39) T225A probably damaging Het
Dchs1 A G 7: 105,421,490 (GRCm39) L310P probably damaging Het
Dgki T C 6: 36,977,025 (GRCm39) N695S probably damaging Het
Gas7 T A 11: 67,543,740 (GRCm39) probably null Het
Gm21286 T C 4: 60,794,323 (GRCm39) noncoding transcript Het
Gm4799 C T 10: 82,790,518 (GRCm39) noncoding transcript Het
Hif1a T A 12: 73,987,307 (GRCm39) S467T probably benign Het
Ier5 A G 1: 154,974,296 (GRCm39) V294A probably damaging Het
Ifna11 T C 4: 88,738,314 (GRCm39) V40A probably benign Het
Itga9 T C 9: 118,436,191 (GRCm39) probably benign Het
Lbx1 G T 19: 45,222,670 (GRCm39) Q118K probably benign Het
Lta A T 17: 35,423,061 (GRCm39) probably null Het
Matr3 A G 18: 35,721,442 (GRCm39) Y471C probably damaging Het
Nrg2 A T 18: 36,178,905 (GRCm39) probably benign Het
Or4c103 C T 2: 88,513,575 (GRCm39) C167Y probably damaging Het
Or4k51 T C 2: 111,584,848 (GRCm39) F85L probably benign Het
Or4k51 T A 2: 111,584,948 (GRCm39) M118K probably damaging Het
Or5l13 G T 2: 87,780,207 (GRCm39) F123L probably damaging Het
Patl1 A G 19: 11,901,247 (GRCm39) K299R probably damaging Het
Pdgfrb A G 18: 61,205,736 (GRCm39) E574G probably damaging Het
Phf3 G A 1: 30,843,386 (GRCm39) Q1858* probably null Het
Prkca T C 11: 107,905,148 (GRCm39) K197E possibly damaging Het
Psmc6 C A 14: 45,581,124 (GRCm39) Q307K probably benign Het
Rasa1 T C 13: 85,406,561 (GRCm39) I181V probably benign Het
Scel A G 14: 103,845,530 (GRCm39) probably benign Het
Scn5a A T 9: 119,363,770 (GRCm39) S457T probably damaging Het
Sesn3 A G 9: 14,232,374 (GRCm39) T216A probably benign Het
Slc25a21 A G 12: 57,205,974 (GRCm39) V19A probably benign Het
Slc34a1 A G 13: 55,550,546 (GRCm39) T81A probably damaging Het
Slc35a5 A G 16: 44,971,866 (GRCm39) Y117H probably damaging Het
Sptbn4 A G 7: 27,114,196 (GRCm39) V569A probably benign Het
Sqle A G 15: 59,195,723 (GRCm39) Y333C probably damaging Het
Svep1 T C 4: 58,068,552 (GRCm39) E3078G possibly damaging Het
Tacc2 T A 7: 130,360,919 (GRCm39) I2737N probably damaging Het
Tet3 A T 6: 83,346,620 (GRCm39) Y1272* probably null Het
Tnr G T 1: 159,724,594 (GRCm39) R1095L possibly damaging Het
Vmn1r184 T C 7: 25,966,862 (GRCm39) S203P probably damaging Het
Vmn2r94 A G 17: 18,477,301 (GRCm39) L370P probably damaging Het
Xrcc5 A G 1: 72,393,404 (GRCm39) H559R probably benign Het
Other mutations in Hdac4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Hdac4 APN 1 91,887,137 (GRCm39) missense probably damaging 0.99
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
R2189:Hdac4 UTSW 1 91,903,244 (GRCm39) missense probably null 0.00
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
Posted On 2013-11-05