Mutagenetix > Incidental Mutation

Incidental Mutation 'R5431:Hdac4'

428028

Institutional Source

Beutler Lab

Gene Symbol

Hdac4

Ensembl Gene

ENSMUSG00000026313

Gene Name

histone deacetylase 4

Synonyms

4932408F19Rik

MMRRC Submission

042847-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5431 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91928779-92195699 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 91972790 bp (GRCm38)

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*

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: R622*

Predicted Effect

probably null
Transcript: ENSMUST00000187308
AA Change: R54*

SMART Domains

Protein: ENSMUSP00000140092
Gene: ENSMUSG00000026313
AA Change: R54*

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: 98.6%
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	C	16: 88,707,538	S124G	possibly damaging	Het
4921539E11Rik	T	C	4: 103,270,848	T27A	probably benign	Het
Aspg	T	A	12: 112,123,412	N461K	probably benign	Het
B4galnt3	T	A	6: 120,218,967	T300S	probably damaging	Het
BC035044	A	G	6: 128,885,007		probably benign	Het
Bmp5	C	T	9: 75,893,709	P374S	probably damaging	Het
C330018D20Rik	A	T	18: 56,957,856	F78L	probably benign	Het
Cds2	T	A	2: 132,302,170	S289T	probably benign	Het
Cerkl	C	T	2: 79,341,335	C393Y	probably damaging	Het
Ciita	C	T	16: 10,523,792	R1020C	probably damaging	Het
Dcaf13	C	A	15: 39,123,224	D130E	probably benign	Het
Dnal4	C	T	15: 79,762,447	G50R	probably damaging	Het
Elfn1	A	G	5: 139,971,568	N109S	probably damaging	Het
Ep400	A	G	5: 110,676,554	V2435A	unknown	Het
Fam178b	T	C	1: 36,632,485	E185G	probably damaging	Het
Fam227b	C	A	2: 126,126,931	L74F	probably benign	Het
Fam92b	C	A	8: 120,167,303		probably null	Het
Fgfr4	G	A	13: 55,156,651	V138I	probably benign	Het
Flnc	A	G	6: 29,456,384	I2161V	possibly damaging	Het
Frmd5	T	C	2: 121,562,909	N235S	probably damaging	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Ggt6	A	G	11: 72,437,738	T355A	possibly damaging	Het
Gm14393	G	A	2: 175,063,876	T41I	probably damaging	Het
Gpr151	A	C	18: 42,578,867	S249A	probably damaging	Het
Gpr152	T	A	19: 4,143,747	V429D	probably benign	Het
Grm7	G	A	6: 111,358,426	M599I	probably benign	Het
Ice1	A	G	13: 70,592,650	L2146S	probably damaging	Het
Igfbpl1	C	T	4: 45,815,588	V183I	probably benign	Het
Kel	G	A	6: 41,698,420	S299F	probably benign	Het
Kif14	T	C	1: 136,496,695	I1016T	possibly damaging	Het
Lhx3	T	C	2: 26,201,118	D395G	probably damaging	Het
Micu1	T	C	10: 59,750,521	Y140H	possibly damaging	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Nbn	C	T	4: 15,986,593	H665Y	probably benign	Het
Pkhd1	G	T	1: 20,117,836	T3416K	probably benign	Het
Plxnb1	T	C	9: 109,100,772	F232S	probably damaging	Het
Pus7l	T	C	15: 94,529,486	N472D	probably damaging	Het
Rfx1	C	T	8: 84,082,720	Q225*	probably null	Het
Rnase2a	T	C	14: 51,255,563	Y115C	possibly damaging	Het
Ryr1	T	A	7: 29,109,812	D386V	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384		probably benign	Homo
Sgcz	T	A	8: 37,639,984	T125S	probably damaging	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Syt2	A	G	1: 134,740,957	S36G	probably benign	Het
Tcaf3	A	G	6: 42,597,185	L31P	probably damaging	Het
Tenm3	C	A	8: 48,367,377	E142*	probably null	Het
Tgfbr2	G	T	9: 116,131,601	S94R	probably damaging	Het
Vmn2r12	A	G	5: 109,091,818	I293T	probably damaging	Het
Wrap73	G	A	4: 154,145,274	R34Q	probably damaging	Het
Zc3h14	A	G	12: 98,780,065	D511G	possibly damaging	Het
Zcchc11	T	A	4: 108,491,412	I297N	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
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
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'- TGCAGGCTGTTCCCTTAAC -3'
(R):5'- CATGGTTAGTTGTCCCATGGC -3'

Sequencing Primer
(F):5'- AGGCTGTTCCCTTAACCTCTCATTAG -3'
(R):5'- TAGTTGTCCCATGGCAGAGAG -3'

Posted On

2016-09-01