Mutagenetix > Incidental Mutations

Incidental Mutation 'R2189:Hdac4'

237951

Institutional Source

Beutler Lab

Gene Symbol

Hdac4

Ensembl Gene

ENSMUSG00000026313

Gene Name

histone deacetylase 4

Synonyms

4932408F19Rik

MMRRC Submission

040191-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2189 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91928779-92195699 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91975522 bp

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]

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

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
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	C	7: 79,098,091	G870A	probably damaging	Het
Adamtsl2	T	C	2: 27,081,738	W12R	probably benign	Het
Bsph1	G	A	7: 13,470,329		probably null	Het
Celsr1	G	T	15: 85,979,230	H1200Q	possibly damaging	Het
Clptm1	A	T	7: 19,637,145	Y355*	probably null	Het
Cry2	T	C	2: 92,411,692	E572G	possibly damaging	Het
Dlk1	G	A	12: 109,455,049		probably null	Het
Eral1	A	G	11: 78,075,831	V201A	probably benign	Het
Esrp1	A	T	4: 11,357,603	M503K	probably benign	Het
Fam83e	G	T	7: 45,722,183	M1I	probably null	Het
Flt4	G	A	11: 49,635,698	A835T	probably benign	Het
Hist1h2bn	A	G	13: 21,754,277	D52G	probably damaging	Het
Icosl	A	G	10: 78,073,925	T235A	possibly damaging	Het
Itga6	A	G	2: 71,825,617	D295G	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lipa	A	T	19: 34,524,799	L15Q	probably benign	Het
Mcc	T	C	18: 44,534,230	E218G	possibly damaging	Het
Mdga2	A	G	12: 66,473,196		probably null	Het
Mmadhc	A	C	2: 50,288,946	C153W	probably damaging	Het
Myh1	A	G	11: 67,221,604	D1799G	probably damaging	Het
Nlrp1b	T	A	11: 71,169,795	Q729L	probably damaging	Het
Ofcc1	T	A	13: 40,180,448	Q389L	probably benign	Het
Olfr1030	A	G	2: 85,984,068	D76G	probably damaging	Het
Olfr469	T	C	7: 107,822,615	I285V	probably benign	Het
Olfr481	A	T	7: 108,081,036	M81L	possibly damaging	Het
Olfr691	A	G	7: 105,337,602	V38A	probably benign	Het
Pml	T	C	9: 58,234,874	N225S	probably benign	Het
Rnf213	A	G	11: 119,430,361	E1215G	probably benign	Het
Scap	T	A	9: 110,377,693	I402N	probably damaging	Het
Sgsm2	A	G	11: 74,853,082	L886P	probably damaging	Het
Sugct	T	C	13: 17,662,266	I104V	probably benign	Het
Tmem200c	A	G	17: 68,840,686	Q88R	probably damaging	Het
Tnfrsf1a	T	A	6: 125,357,805	L14Q	probably benign	Het
Tnk2	C	T	16: 32,671,421	L381F	probably damaging	Het
Ubr2	C	T	17: 46,943,364	V1454I	probably benign	Het
V1ra8	A	C	6: 90,202,962	D49A	probably damaging	Het
Vmn2r5	A	C	3: 64,509,593	M48R	probably benign	Het
Yars	A	G	4: 129,206,189	I227V	probably damaging	Het
Zfp850	C	A	7: 27,989,055	R576L	probably benign	Het
Zfpm2	T	A	15: 41,101,183	F223I	possibly damaging	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
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
R6381:Hdac4	UTSW	1	91984525	missense	possibly damaging	0.67
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'- AATCCTCGTGTACCTGAGAGTG -3'
(R):5'- TCCGCATTGCAGATAATCTCC -3'

Sequencing Primer
(F):5'- CTCGTGTACCTGAGAGTGTACAAC -3'
(R):5'- TGCAGATAATCTCCAAACCTAGTGAG -3'

Posted On

2014-10-02