Mutagenetix > Incidental Mutation

Incidental Mutation 'R0334:Hdac4'

26079

Institutional Source

Beutler Lab

Gene Symbol

Hdac4

Ensembl Gene

ENSMUSG00000026313

Gene Name

histone deacetylase 4

Synonyms

4932408F19Rik

MMRRC Submission

038543-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0334 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91928779-92195699 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 91956038 bp (GRCm38)

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

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 benign
Transcript: ENSMUST00000097644

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.6%

Validation Efficiency

99% (68/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,617,129		probably benign	Het
Aggf1	T	C	13: 95,371,597	N87S	probably benign	Het
Ap2b1	T	C	11: 83,367,874		probably benign	Het
Arfgef3	A	G	10: 18,592,281	Y1724H	probably damaging	Het
Arhgef10l	G	A	4: 140,583,926	Q243*	probably null	Het
Atp8a2	A	T	14: 59,691,512	F1031Y	probably damaging	Het
Bmp8b	A	G	4: 123,114,760		probably null	Het
Brinp2	G	T	1: 158,295,585	T37K	probably benign	Het
Bsph1	T	A	7: 13,450,939	L9*	probably null	Het
C6	T	G	15: 4,755,367	N238K	probably benign	Het
Cbs	T	C	17: 31,619,156	D373G	probably damaging	Het
Clec4a3	T	C	6: 122,969,370	F191S	possibly damaging	Het
Cpz	A	G	5: 35,503,681	V530A	probably damaging	Het
Ctsc	G	T	7: 88,278,342	S47I	possibly damaging	Het
Cyp7b1	T	G	3: 18,103,796	Y53S	probably damaging	Het
Dach1	C	T	14: 98,168,748	G188R	probably damaging	Het
Defb4	T	C	8: 19,201,204	I29T	probably benign	Het
Disc1	A	T	8: 125,261,097		probably null	Het
Dnah2	A	G	11: 69,436,836	M3429T	probably damaging	Het
Dnah7a	A	T	1: 53,433,054	I3518N	possibly damaging	Het
Dnah8	A	T	17: 30,871,351	H4609L	probably damaging	Het
Evi5	C	A	5: 107,820,535	C182F	probably damaging	Het
Fam149b	G	A	14: 20,363,424	R237H	probably damaging	Het
Fut8	T	A	12: 77,393,762	D174E	possibly damaging	Het
Ghr	T	C	15: 3,341,098		probably benign	Het
Gm10801	G	C	2: 98,664,007	R143T	possibly damaging	Het
Gm12794	T	C	4: 101,941,584	F251L	probably benign	Het
Gm8882	T	A	6: 132,364,058	Q17L	unknown	Het
Gm9573	A	G	17: 35,622,722		probably benign	Het
Gpr176	T	C	2: 118,279,708	S357G	probably benign	Het
Grwd1	A	T	7: 45,827,177		probably null	Het
H2-T24	A	G	17: 36,014,880	V273A	possibly damaging	Het
Herc3	A	G	6: 58,918,817	T1017A	probably damaging	Het
Hsd11b1	T	C	1: 193,242,168		probably benign	Het
Igsf23	T	C	7: 19,941,753	S143G	probably benign	Het
Kbtbd12	T	A	6: 88,617,906	Y314F	probably damaging	Het
Kcnmb2	A	G	3: 32,198,359		probably null	Het
Kdm5b	A	G	1: 134,604,522	I479M	probably damaging	Het
Kidins220	A	G	12: 25,008,069	T600A	probably damaging	Het
Mrgprb2	A	C	7: 48,552,329	I216S	probably damaging	Het
Myo1g	A	G	11: 6,511,084		probably benign	Het
Nrxn3	T	C	12: 89,813,642		probably null	Het
Olfr706	A	G	7: 106,886,415	V134A	probably benign	Het
Olfr921	A	T	9: 38,775,239		probably null	Het
Olfr943	A	G	9: 39,184,684	I169V	probably benign	Het
Pdia5	A	T	16: 35,464,390	S66T	possibly damaging	Het
Plec	T	C	15: 76,178,006	E2604G	probably damaging	Het
Plekha6	G	T	1: 133,282,180	A654S	probably benign	Het
Pnpla2	G	A	7: 141,459,520		probably null	Het
Prkdc	A	G	16: 15,736,799	D2128G	probably benign	Het
Rabggta	A	T	14: 55,720,811	L131Q	probably damaging	Het
Rbks	A	T	5: 31,624,519	Y312*	probably null	Het
Rnf139	A	G	15: 58,899,473	Y449C	probably damaging	Het
Sbno1	A	G	5: 124,386,868	V1058A	possibly damaging	Het
Sema3a	A	T	5: 13,557,301	N321I	probably damaging	Het
Slit3	T	A	11: 35,579,101	V310E	probably damaging	Het
Slitrk5	T	C	14: 111,680,824	S627P	probably benign	Het
Stat2	T	A	10: 128,277,867	F172I	probably damaging	Het
Tchh	C	A	3: 93,445,616	R788S	unknown	Het
Tnks	T	A	8: 34,853,259	K753*	probably null	Het
Trank1	T	A	9: 111,365,353	V815D	probably benign	Het
Trank1	T	A	9: 111,392,940	I2915N	probably damaging	Het
Trpc6	T	C	9: 8,610,343	S271P	probably damaging	Het
Trpm5	T	C	7: 143,086,876	Q213R	probably benign	Het
Ulk3	C	T	9: 57,594,227		probably benign	Het
Usp31	T	C	7: 121,658,962	D694G	probably damaging	Het
Wnt3a	A	G	11: 59,256,318	S181P	probably damaging	Het
Yipf3	T	C	17: 46,248,312	F22S	possibly damaging	Het
Zbtb40	A	T	4: 136,986,556	H1094Q	probably 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
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
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
R8957:Hdac4	UTSW	1	91946035	critical splice acceptor site	probably null
R9129:Hdac4	UTSW	1	91982207	missense	probably benign
R9167:Hdac4	UTSW	1	91947534	missense	probably benign	0.35
R9243:Hdac4	UTSW	1	91972789	missense	probably damaging	0.98
R9243:Hdac4	UTSW	1	91972790	missense	probably benign	0.14
R9255:Hdac4	UTSW	1	91961451	critical splice donor site	probably null
R9503:Hdac4	UTSW	1	92002234	missense	probably damaging	0.96
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'- GGGCAACCTGAGCTGTAACAAGTG -3'
(R):5'- TGACGTGCCTGTAAGTAGCCAACC -3'

Sequencing Primer
(F):5'- GTGAAATACTACTTCTGTGGCAGATG -3'
(R):5'- GTCAGGACTACACTATGTGCTCAG -3'

Posted On

2013-04-16