Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03250:Hdac4'

414541

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 #

IGL03250

Quality Score

Status

Chromosome

Chromosomal Location

91856501-92123421 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 91862322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000095249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008995] [ENSMUST00000097644]

AlphaFold

Q6NZM9

Predicted Effect

probably null
Transcript: ENSMUST00000008995

SMART Domains

Protein: ENSMUSP00000008995
Gene: ENSMUSG00000026313

Domain	Start	End	E-Value	Type
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191327

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bnipl	C	T	3: 95,151,450 (GRCm39)		probably benign	Het
Calb2	G	T	8: 110,869,739 (GRCm39)	L265I	probably benign	Het
Cdhr4	C	T	9: 107,873,858 (GRCm39)	R442C	probably damaging	Het
Cep192	T	C	18: 67,940,426 (GRCm39)	V131A	probably benign	Het
Ctnnal1	G	T	4: 56,812,356 (GRCm39)	N723K	probably benign	Het
Dclre1b	T	C	3: 103,711,380 (GRCm39)		probably null	Het
Mms19	A	T	19: 41,942,903 (GRCm39)		probably null	Het
Myh7	A	T	14: 55,229,704 (GRCm39)	M113K	probably damaging	Het
Pkdrej	T	C	15: 85,705,556 (GRCm39)	T127A	possibly damaging	Het
Plekhm3	A	G	1: 64,977,206 (GRCm39)	V88A	possibly damaging	Het
S100a7l2	T	C	3: 90,997,715 (GRCm39)		probably benign	Het
Slc17a5	A	G	9: 78,485,846 (GRCm39)	S80P	probably damaging	Het
Suclg1	A	G	6: 73,247,975 (GRCm39)	N232S	probably benign	Het
Upk1a	A	T	7: 30,306,403 (GRCm39)	V121E	possibly damaging	Het
Vmn1r70	C	T	7: 10,368,208 (GRCm39)	T232I	probably damaging	Het
Vmn2r4	G	A	3: 64,314,063 (GRCm39)	T306I	probably damaging	Het
Wdfy4	A	T	14: 32,699,124 (GRCm39)	M2524K	probably damaging	Het
Wdr6	A	G	9: 108,450,396 (GRCm39)	V1044A	possibly damaging	Het
Zfp809	A	G	9: 22,149,931 (GRCm39)	T143A	possibly damaging	Het

Other mutations in Hdac4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2016-08-02