Mutagenetix > Incidental Mutation

Incidental Mutation 'R1987:Hdac4'

222586

Institutional Source

Beutler Lab

Gene Symbol

Hdac4

Ensembl Gene

ENSMUSG00000026313

Gene Name

histone deacetylase 4

Synonyms

4932408F19Rik

MMRRC Submission

039999-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1987 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91856501-92123421 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 91862367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1002 (N1002K)

Ref Sequence

ENSEMBL: ENSMUSP00000095249 (fasta)

Gene Model

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

AlphaFold

Q6NZM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000008995
AA Change: N1002K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000008995
Gene: ENSMUSG00000026313
AA Change: N1002K

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 damaging
Transcript: ENSMUST00000097644
AA Change: N1002K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191327

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 92.6%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	T	19: 8,992,615 (GRCm39)	D4633V	probably damaging	Het
Akap6	T	C	12: 53,187,578 (GRCm39)	F1664S	possibly damaging	Het
Arhgef28	T	C	13: 98,103,604 (GRCm39)	M803V	probably benign	Het
Bltp1	T	A	3: 37,008,134 (GRCm39)		probably null	Het
Bltp2	A	T	11: 78,158,993 (GRCm39)	Q433L	probably damaging	Het
Ccdc73	T	A	2: 104,761,390 (GRCm39)	L130*	probably null	Het
Ccdc73	A	G	2: 104,829,504 (GRCm39)	E1059G	probably damaging	Het
Ccer2	A	C	7: 28,456,708 (GRCm39)	S151R	possibly damaging	Het
Cep128	T	A	12: 91,197,603 (GRCm39)	H406L	probably benign	Het
Cep135	A	G	5: 76,745,275 (GRCm39)	D229G	probably benign	Het
Cpvl	T	A	6: 53,931,596 (GRCm39)	D103V	probably benign	Het
Crppa	T	A	12: 36,571,995 (GRCm39)	L301Q	probably damaging	Het
Cstdc6	C	A	16: 36,142,194 (GRCm39)	G61C	probably damaging	Het
Disp3	G	A	4: 148,343,210 (GRCm39)	A567V	probably damaging	Het
Dnah5	T	C	15: 28,343,737 (GRCm39)	I2379T	probably damaging	Het
Dnah6	T	C	6: 73,072,027 (GRCm39)	Y2433C	probably damaging	Het
Dock3	A	G	9: 106,985,620 (GRCm39)	I85T	probably benign	Het
Dock9	A	C	14: 121,829,242 (GRCm39)	S1380A	probably benign	Het
Erbin	T	C	13: 104,022,711 (GRCm39)	T43A	probably benign	Het
Fastkd3	T	C	13: 68,733,360 (GRCm39)	V502A	possibly damaging	Het
Fn1	T	C	1: 71,690,784 (GRCm39)	H59R	probably damaging	Het
Fsd2	A	G	7: 81,209,407 (GRCm39)	V145A	possibly damaging	Het
Fzr1	A	G	10: 81,206,153 (GRCm39)	V178A	probably damaging	Het
Gnpnat1	T	C	14: 45,618,455 (GRCm39)	R116G	probably damaging	Het
Grm7	T	A	6: 110,891,472 (GRCm39)	V235E	probably damaging	Het
Hey1	C	T	3: 8,729,957 (GRCm39)	A167T	probably benign	Het
Hrnr	A	G	3: 93,239,911 (GRCm39)	N3383S	unknown	Het
Ints2	A	T	11: 86,108,626 (GRCm39)	V907D	probably benign	Het
Jchain	T	A	5: 88,669,326 (GRCm39)	Q109L	probably damaging	Het
Klhdc7a	A	T	4: 139,693,335 (GRCm39)	Y537*	probably null	Het
Klra1	C	T	6: 130,354,742 (GRCm39)	S92N	probably benign	Het
Krt31	C	T	11: 99,940,406 (GRCm39)	G150S	probably benign	Het
Lrrc71	G	A	3: 87,649,950 (GRCm39)	T326M	probably benign	Het
Lrrn4	T	C	2: 132,712,363 (GRCm39)	T487A	probably benign	Het
Map4k5	T	G	12: 69,889,686 (GRCm39)	R198S	probably damaging	Het
Men1	G	A	19: 6,388,867 (GRCm39)	C354Y	probably damaging	Het
Ms4a18	A	T	19: 10,991,019 (GRCm39)	V25E	probably damaging	Het
Mutyh	T	A	4: 116,676,565 (GRCm39)	S512R	possibly damaging	Het
Myh10	G	T	11: 68,705,322 (GRCm39)	A1947S	possibly damaging	Het
Nfasc	T	C	1: 132,538,624 (GRCm39)	D427G	probably damaging	Het
Nlrp9c	A	G	7: 26,077,481 (GRCm39)	M767T	probably benign	Het
Nrbp1	T	C	5: 31,402,735 (GRCm39)	L185P	probably damaging	Het
Pcdh9	G	A	14: 94,125,741 (GRCm39)	P143L	probably damaging	Het
Pcsk6	A	T	7: 65,577,035 (GRCm39)	M158L	possibly damaging	Het
Pkd1	G	T	17: 24,795,566 (GRCm39)		probably null	Het
Plk4	A	T	3: 40,760,252 (GRCm39)	S383C	possibly damaging	Het
Plxna2	T	C	1: 194,326,297 (GRCm39)	L77P	probably damaging	Het
Pnpla6	A	T	8: 3,592,370 (GRCm39)	T1209S	probably benign	Het
Prdm2	A	G	4: 142,859,079 (GRCm39)	S1404P	possibly damaging	Het
Preb	T	C	5: 31,116,157 (GRCm39)	D150G	probably damaging	Het
Prrt2	A	G	7: 126,617,902 (GRCm39)	V59A	probably benign	Het
Prss40	T	C	1: 34,597,095 (GRCm39)	N151S	possibly damaging	Het
Ptprt	G	T	2: 161,400,818 (GRCm39)	A1053D	probably damaging	Het
Ptprt	A	G	2: 161,608,241 (GRCm39)	V685A	possibly damaging	Het
Rfx4	C	T	10: 84,731,952 (GRCm39)	S549F	possibly damaging	Het
Rnaset2b	T	A	17: 7,263,876 (GRCm39)	V87E	probably benign	Het
Rnf213	G	A	11: 119,331,933 (GRCm39)	E2381K	probably damaging	Het
Sectm1a	A	T	11: 120,960,506 (GRCm39)	I103N	probably damaging	Het
Selp	T	A	1: 163,970,327 (GRCm39)	L597Q	probably damaging	Het
Sema6a	T	C	18: 47,433,209 (GRCm39)	D74G	probably damaging	Het
Serpinb9b	T	C	13: 33,213,542 (GRCm39)	V33A	probably benign	Het
Setd1b	A	T	5: 123,285,769 (GRCm39)	T272S	unknown	Het
Sgf29	G	C	7: 126,248,649 (GRCm39)		probably null	Het
Slc4a10	C	A	2: 62,098,548 (GRCm39)	Q561K	probably damaging	Het
Slc4a5	T	C	6: 83,250,214 (GRCm39)	I649T	possibly damaging	Het
Slc5a7	A	G	17: 54,600,863 (GRCm39)	Y91H	probably damaging	Het
Styxl1	T	C	5: 135,785,976 (GRCm39)	Y23C	probably damaging	Het
Tbc1d24	A	G	17: 24,425,846 (GRCm39)	V490A	possibly damaging	Het
Tbpl2	A	T	2: 23,984,744 (GRCm39)	F133L	probably benign	Het
Tnfrsf22	T	C	7: 143,192,126 (GRCm39)		probably benign	Het
Top2b	A	G	14: 16,398,916 (GRCm38)	E512G	probably damaging	Het
Trgc3	C	A	13: 19,445,164 (GRCm39)	F37L	probably damaging	Het
Ttc17	T	A	2: 94,194,690 (GRCm39)	H561L	probably benign	Het
Ttll4	G	T	1: 74,724,527 (GRCm39)	V566L	possibly damaging	Het
Ubqlnl	A	G	7: 103,797,692 (GRCm39)	Y602H	probably benign	Het
Vmn1r231	T	A	17: 21,110,212 (GRCm39)	E234D	probably damaging	Het
Wbp11	A	G	6: 136,797,583 (GRCm39)	S279P	probably damaging	Het
Wdr6	A	G	9: 108,453,733 (GRCm39)	L50P	probably damaging	Het
Zfp715	A	C	7: 42,948,073 (GRCm39)	I629S	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
IGL03250:Hdac4	APN	1	91,862,322 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TTCTTTCGAAGCCCTGTACAG -3'
(R):5'- ACCCTAAGGAGAGACTACCTG -3'

Sequencing Primer
(F):5'- TTTCGAAGCCCTGTACAGTAGGAC -3'
(R):5'- CCAAGTCATACTGGCTTTTTAGAG -3'

Posted On

2014-08-25