Incidental Mutation 'R5431:Hdac4'
ID 428028
Institutional Source Beutler Lab
Gene Symbol Hdac4
Ensembl Gene ENSMUSG00000026313
Gene Name histone deacetylase 4
Synonyms 4932408F19Rik
MMRRC Submission 042847-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5431 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 91856501-92123421 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 91900512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 54 (R54*)
Ref Sequence ENSEMBL: ENSMUSP00000140092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008995] [ENSMUST00000097644] [ENSMUST00000187308]
AlphaFold Q6NZM9
Predicted Effect probably null
Transcript: ENSMUST00000008995
AA Change: R622*
SMART Domains Protein: ENSMUSP00000008995
Gene: ENSMUSG00000026313
AA Change: R622*

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: R622*
Predicted Effect probably null
Transcript: ENSMUST00000187308
AA Change: R54*
SMART Domains Protein: ENSMUSP00000140092
Gene: ENSMUSG00000026313
AA Change: R54*

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: 98.6%
  • 10x: 97.2%
  • 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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,504,426 (GRCm39) S124G possibly damaging Het
4921539E11Rik T C 4: 103,128,045 (GRCm39) T27A probably benign Het
Aspg T A 12: 112,089,846 (GRCm39) N461K probably benign Het
B4galnt3 T A 6: 120,195,928 (GRCm39) T300S probably damaging Het
BC035044 A G 6: 128,861,970 (GRCm39) probably benign Het
Bmp5 C T 9: 75,800,991 (GRCm39) P374S probably damaging Het
C330018D20Rik A T 18: 57,090,928 (GRCm39) F78L probably benign Het
Cds2 T A 2: 132,144,090 (GRCm39) S289T probably benign Het
Cerkl C T 2: 79,171,679 (GRCm39) C393Y probably damaging Het
Cibar2 C A 8: 120,894,042 (GRCm39) probably null Het
Ciita C T 16: 10,341,656 (GRCm39) R1020C probably damaging Het
Dcaf13 C A 15: 38,986,619 (GRCm39) D130E probably benign Het
Dnal4 C T 15: 79,646,648 (GRCm39) G50R probably damaging Het
Elfn1 A G 5: 139,957,323 (GRCm39) N109S probably damaging Het
Ep400 A G 5: 110,824,420 (GRCm39) V2435A unknown Het
Fam178b T C 1: 36,671,566 (GRCm39) E185G probably damaging Het
Fam227b C A 2: 125,968,851 (GRCm39) L74F probably benign Het
Fgfr4 G A 13: 55,304,464 (GRCm39) V138I probably benign Het
Flnc A G 6: 29,456,383 (GRCm39) I2161V possibly damaging Het
Frmd5 T C 2: 121,393,390 (GRCm39) N235S probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Ggt6 A G 11: 72,328,564 (GRCm39) T355A possibly damaging Het
Gm14393 G A 2: 174,905,669 (GRCm39) T41I probably damaging Het
Gpr151 A C 18: 42,711,932 (GRCm39) S249A probably damaging Het
Gpr152 T A 19: 4,193,746 (GRCm39) V429D probably benign Het
Grm7 G A 6: 111,335,387 (GRCm39) M599I probably benign Het
Ice1 A G 13: 70,740,769 (GRCm39) L2146S probably damaging Het
Igfbpl1 C T 4: 45,815,588 (GRCm39) V183I probably benign Het
Kel G A 6: 41,675,354 (GRCm39) S299F probably benign Het
Kif14 T C 1: 136,424,433 (GRCm39) I1016T possibly damaging Het
Lhx3 T C 2: 26,091,130 (GRCm39) D395G probably damaging Het
Micu1 T C 10: 59,586,343 (GRCm39) Y140H possibly damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nbn C T 4: 15,986,593 (GRCm39) H665Y probably benign Het
Pkhd1 G T 1: 20,188,060 (GRCm39) T3416K probably benign Het
Plxnb1 T C 9: 108,929,840 (GRCm39) F232S probably damaging Het
Pus7l T C 15: 94,427,367 (GRCm39) N472D probably damaging Het
Rfx1 C T 8: 84,809,349 (GRCm39) Q225* probably null Het
Rnase2a T C 14: 51,493,020 (GRCm39) Y115C possibly damaging Het
Ryr1 T A 7: 28,809,237 (GRCm39) D386V probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Homo
Sgcz T A 8: 38,107,138 (GRCm39) T125S probably damaging Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Syt2 A G 1: 134,668,695 (GRCm39) S36G probably benign Het
Tcaf3 A G 6: 42,574,119 (GRCm39) L31P probably damaging Het
Tenm3 C A 8: 48,820,412 (GRCm39) E142* probably null Het
Tgfbr2 G T 9: 115,960,669 (GRCm39) S94R probably damaging Het
Tut4 T A 4: 108,348,609 (GRCm39) I297N probably damaging Het
Vmn2r12 A G 5: 109,239,684 (GRCm39) I293T probably damaging Het
Wrap73 G A 4: 154,229,731 (GRCm39) R34Q probably damaging Het
Zc3h14 A G 12: 98,746,324 (GRCm39) D511G 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
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
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'- TGCAGGCTGTTCCCTTAAC -3'
(R):5'- CATGGTTAGTTGTCCCATGGC -3'

Sequencing Primer
(F):5'- AGGCTGTTCCCTTAACCTCTCATTAG -3'
(R):5'- TAGTTGTCCCATGGCAGAGAG -3'
Posted On 2016-09-01