Mutagenetix > Incidental Mutations

Incidental Mutation 'R6381:Hdac4'

515294

Institutional Source

Beutler Lab

Gene Symbol

Hdac4

Ensembl Gene

ENSMUSG00000026313

Gene Name

histone deacetylase 4

Synonyms

4932408F19Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6381 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91928779-92195699 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 91984525 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 381 (Q381K)

Ref Sequence

ENSEMBL: ENSMUSP00000095249 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000008995
AA Change: Q381K

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000008995
Gene: ENSMUSG00000026313
AA Change: Q381K

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

possibly damaging
Transcript: ENSMUST00000097644
AA Change: Q381K

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194827

Meta Mutation Damage Score

0.0954

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

97% (56/58)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,467,717	M365L	probably damaging	Het
5330417C22Rik	T	C	3: 108,481,814	K222E	possibly damaging	Het
Aars2	A	G	17: 45,518,545	E786G	probably benign	Het
Adamts12	G	T	15: 11,256,994	V478F	possibly damaging	Het
Akr1c21	T	A	13: 4,574,184	D12E	probably damaging	Het
Aplf	A	T	6: 87,658,977	M118K	probably damaging	Het
Apobec1	A	G	6: 122,578,931	L189P	probably damaging	Het
BC061237	A	G	14: 44,504,256	Q152R	possibly damaging	Het
Bche	A	G	3: 73,701,799	I98T	probably benign	Het
Cc2d2a	G	T	5: 43,715,776	R983L	possibly damaging	Het
Ccnd3	T	C	17: 47,505,224		probably benign	Het
Cd74	G	T	18: 60,811,363	C215F	probably damaging	Het
Cep97	C	T	16: 55,922,171	A138T	probably damaging	Het
Ces1e	T	A	8: 93,217,578	N204I	probably damaging	Het
Dicer1	T	C	12: 104,696,462	D1620G	probably benign	Het
Dnah17	A	G	11: 118,129,185	V12A	probably benign	Het
Dstyk	T	A	1: 132,456,765		probably null	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Gm10570	G	T	4: 130,308,228		probably benign	Het
Gm7145	C	T	1: 117,985,939	Q184*	probably null	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Gtse1	G	A	15: 85,862,148	R55H	probably benign	Het
Ifit3b	T	C	19: 34,612,471	I349T	probably benign	Het
Inpp5a	A	T	7: 139,400,673	D9V	probably benign	Het
Irs1	T	C	1: 82,287,684	N937S	possibly damaging	Het
Kcna4	T	C	2: 107,294,972	M17T	probably benign	Het
Lipa	T	A	19: 34,524,746	M33L	probably benign	Het
March6	G	T	15: 31,467,692	Q790K	probably benign	Het
Mccc1	G	A	3: 35,976,727	P397S	probably benign	Het
Mrgprb2	T	C	7: 48,552,390	I196V	probably benign	Het
Myh15	T	A	16: 49,101,481	S463R	probably damaging	Het
Nab2	T	C	10: 127,664,351	K291E	probably damaging	Het
Neto2	T	C	8: 85,642,509	T294A	probably damaging	Het
Nkx1-1	T	C	5: 33,433,976	M1V	probably null	Het
Olfr90	C	T	17: 37,086,085	V27I	probably benign	Het
Pla2g4c	C	T	7: 13,344,008	T357I	probably benign	Het
Psmd2	A	G	16: 20,655,273	E242G	probably benign	Het
Rnase12	A	C	14: 51,057,094	Y43D	probably damaging	Het
Rpl18	T	A	7: 45,719,592	F58I	probably damaging	Het
Ryr1	T	G	7: 29,075,257	M2313L	possibly damaging	Het
Scn4a	G	T	11: 106,320,311	Q1627K	probably damaging	Het
Scnn1g	A	G	7: 121,767,499	S640G	probably benign	Het
Sdccag3	A	G	2: 26,385,081		probably null	Het
Sdr9c7	T	A	10: 127,903,673	M219K	probably benign	Het
Soat1	A	T	1: 156,435,803	M392K	probably damaging	Het
Spata18	G	T	5: 73,675,216	K337N	probably damaging	Het
Supt16	A	G	14: 52,179,546	V325A	probably benign	Het
Syt2	A	G	1: 134,746,850	E342G	probably damaging	Het
Tars2	A	T	3: 95,754,487	L37*	probably null	Het
Tep1	T	C	14: 50,845,431	D1040G	probably damaging	Het
Tmc8	A	T	11: 117,791,600	S613C	probably null	Het
Top3a	C	T	11: 60,744,023	C660Y	probably damaging	Het
Tpsg1	C	T	17: 25,372,569	R48C	probably damaging	Het
Vmn2r57	T	C	7: 41,428,818	N72S	probably benign	Het
Whrn	G	A	4: 63,472,684	T269I	probably benign	Het
Zfp759	T	A	13: 67,138,905	Y173*	probably null	Het

Other mutations in Hdac4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Hdac4	APN	1	91959415	missense	probably damaging	0.99
IGL01396:Hdac4	APN	1	91959474	splice site	probably benign
IGL01536:Hdac4	APN	1	91930146	utr 3 prime	probably benign
IGL01860:Hdac4	APN	1	91933695	missense	probably benign	0.31
IGL02110:Hdac4	APN	1	91984405	missense	probably benign	0.00
IGL02201:Hdac4	APN	1	91987660	splice site	probably null
IGL02294:Hdac4	APN	1	91982207	missense	probably benign
IGL02367:Hdac4	APN	1	91958449	splice site	probably benign
IGL02429:Hdac4	APN	1	92012695	missense	probably benign	0.00
IGL02966:Hdac4	APN	1	92054945	missense	possibly damaging	0.94
IGL03250:Hdac4	APN	1	91934600	critical splice donor site	probably null
R0067:Hdac4	UTSW	1	92029984	missense	probably damaging	1.00
R0103:Hdac4	UTSW	1	91975644	missense	possibly damaging	0.73
R0288:Hdac4	UTSW	1	91971006	missense	probably damaging	1.00
R0334:Hdac4	UTSW	1	91956038	splice site	probably benign
R1473:Hdac4	UTSW	1	92029968	missense	possibly damaging	0.88
R1732:Hdac4	UTSW	1	91947535	missense	probably benign	0.01
R1826:Hdac4	UTSW	1	91984699	missense	probably damaging	1.00
R1987:Hdac4	UTSW	1	91934645	missense	probably damaging	1.00
R2189:Hdac4	UTSW	1	91975522	missense	probably null	0.00
R2384:Hdac4	UTSW	1	91984485	missense	probably benign	0.02
R3705:Hdac4	UTSW	1	91934694	splice site	probably benign
R3894:Hdac4	UTSW	1	91970968	missense	possibly damaging	0.95
R4440:Hdac4	UTSW	1	91945995	missense	probably damaging	1.00
R5075:Hdac4	UTSW	1	91996120	missense	probably benign	0.00
R5431:Hdac4	UTSW	1	91972790	nonsense	probably null
R5505:Hdac4	UTSW	1	91975465	missense	probably benign
R5854:Hdac4	UTSW	1	91959421	missense	probably damaging	1.00
R6018:Hdac4	UTSW	1	91958398	missense	probably damaging	1.00
R6164:Hdac4	UTSW	1	92030154	missense	probably benign	0.04
R6239:Hdac4	UTSW	1	92054972	missense	probably benign	0.17
R6247:Hdac4	UTSW	1	92012838	splice site	probably null
R6306:Hdac4	UTSW	1	91996174	missense	probably benign	0.00
R6450:Hdac4	UTSW	1	91984711	missense	possibly damaging	0.81
R6504:Hdac4	UTSW	1	91968455	missense	possibly damaging	0.88
R6639:Hdac4	UTSW	1	91970948	missense	probably damaging	1.00
R6799:Hdac4	UTSW	1	92002213	missense	probably damaging	0.98
R6910:Hdac4	UTSW	1	91982153	missense	probably damaging	1.00
R7002:Hdac4	UTSW	1	91968361	missense	possibly damaging	0.85
R7781:Hdac4	UTSW	1	91975665	missense	probably benign	0.41
R7966:Hdac4	UTSW	1	91933680	missense	possibly damaging	0.71
R8156:Hdac4	UTSW	1	91958416	missense	probably damaging	0.99
R8732:Hdac4	UTSW	1	91947517	missense	probably damaging	1.00
Z1177:Hdac4	UTSW	1	91956047	missense	probably damaging	1.00
Z1177:Hdac4	UTSW	1	91987611	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CACAGAGATCTCCTTGTGGTTC -3'
(R):5'- TGACTCGAGAAGGCTCAGTC -3'

Sequencing Primer
(F):5'- CTTACCTGTGACAAGGGGTG -3'
(R):5'- ATCCTTACCCAACATCACCTTGG -3'

Posted On

2018-05-04