Mutagenetix > Incidental Mutation

Incidental Mutation 'R7002:Hdac4'

544573

Institutional Source

Beutler Lab

Gene Symbol

Hdac4

Ensembl Gene

ENSMUSG00000026313

Gene Name

histone deacetylase 4

Synonyms

4932408F19Rik

MMRRC Submission

045107-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7002 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91856501-92123421 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 91896083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 729 (K729T)

Ref Sequence

ENSEMBL: ENSMUSP00000095249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008995] [ENSMUST00000097644] [ENSMUST00000187308]

AlphaFold

Q6NZM9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000008995
AA Change: K729T

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000008995
Gene: ENSMUSG00000026313
AA Change: K729T

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: K729T

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000187308
AA Change: K161T

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140092
Gene: ENSMUSG00000026313
AA Change: K161T

Domain	Start	End	E-Value	Type
Pfam:Hist_deacetyl	93	313	2.3e-61	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,832,390 (GRCm39)	S1308P	probably damaging	Het
Abl2	A	T	1: 156,386,703 (GRCm39)	R29W	probably damaging	Het
Adam6b	C	A	12: 113,453,327 (GRCm39)	S48*	probably null	Het
Adamts18	T	A	8: 114,501,922 (GRCm39)	D313V	possibly damaging	Het
Aoc1	A	G	6: 48,882,810 (GRCm39)	S229G	probably benign	Het
Apol10a	G	A	15: 77,369,046 (GRCm39)	R15H	possibly damaging	Het
Bend4	T	A	5: 67,555,602 (GRCm39)	T535S	probably benign	Het
Blm	T	C	7: 80,119,501 (GRCm39)	K1024R	probably benign	Het
Brca2	T	C	5: 150,463,383 (GRCm39)	V1049A	probably benign	Het
Cerk	T	C	15: 86,040,795 (GRCm39)	Y188C	possibly damaging	Het
Cic	C	T	7: 24,971,621 (GRCm39)	R451C	probably damaging	Het
Col18a1	A	T	10: 77,002,177 (GRCm39)	V10E	unknown	Het
Cplx1	T	A	5: 108,668,182 (GRCm39)	K58M	probably damaging	Het
Crybg1	T	A	10: 43,874,831 (GRCm39)	D759V	probably damaging	Het
Cwc25	A	T	11: 97,638,897 (GRCm39)	N342K	probably damaging	Het
Dab2	A	T	15: 6,464,846 (GRCm39)	T566S	probably benign	Het
Depdc5	G	A	5: 33,034,502 (GRCm39)		probably null	Het
Dip2b	T	A	15: 100,058,346 (GRCm39)	N408K	probably benign	Het
Dnah12	T	C	14: 26,598,955 (GRCm39)	I3631T	probably damaging	Het
Dnase1	A	G	16: 3,857,410 (GRCm39)	I236V	possibly damaging	Het
Duox1	C	T	2: 122,150,358 (GRCm39)	Q196*	probably null	Het
Eef2k	G	A	7: 120,491,155 (GRCm39)	R547Q	probably benign	Het
Erich5	C	T	15: 34,471,508 (GRCm39)	L246F	probably damaging	Het
Frmpd1	C	T	4: 45,284,200 (GRCm39)	A1007V	probably benign	Het
Fsip2	T	A	2: 82,819,687 (GRCm39)	I5140N	possibly damaging	Het
Gan	T	C	8: 117,922,586 (GRCm39)	C440R	possibly damaging	Het
Garnl3	T	A	2: 32,944,205 (GRCm39)	H73L	possibly damaging	Het
Gid8	T	G	2: 180,355,096 (GRCm39)	M34R	possibly damaging	Het
Gjd4	C	A	18: 9,280,960 (GRCm39)	L39F	possibly damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Grhpr	T	C	4: 44,990,427 (GRCm39)	S306P	probably damaging	Het
H2bc21	A	G	3: 96,128,689 (GRCm39)	I70V	probably benign	Het
Igfbp2	C	T	1: 72,888,804 (GRCm39)	H85Y	probably damaging	Het
Igkv4-61	T	G	6: 69,394,373 (GRCm39)	I13L	probably benign	Het
Il18r1	G	A	1: 40,514,013 (GRCm39)	S73N	probably benign	Het
Immt	T	C	6: 71,838,024 (GRCm39)	V244A	probably damaging	Het
Irs1	T	C	1: 82,265,981 (GRCm39)	Y745C	probably benign	Het
Itpr3	T	C	17: 27,329,554 (GRCm39)	V1526A	probably benign	Het
Jrkl	A	T	9: 13,245,526 (GRCm39)	I45K	probably damaging	Het
Lamp3	G	T	16: 19,474,172 (GRCm39)	Q401K	possibly damaging	Het
Lrrfip1	T	A	1: 91,043,180 (GRCm39)	H528Q	probably benign	Het
Ltn1	A	T	16: 87,220,361 (GRCm39)	D245E	probably benign	Het
Mmut	T	A	17: 41,252,274 (GRCm39)	I272N	possibly damaging	Het
Mnat1	T	C	12: 73,277,479 (GRCm39)		probably benign	Het
Mprip	A	C	11: 59,652,016 (GRCm39)	M1907L	probably benign	Het
Nfu1	C	A	6: 86,993,254 (GRCm39)	H131Q	probably benign	Het
Nup188	T	A	2: 30,213,580 (GRCm39)	S670R	probably damaging	Het
Or5b120	A	G	19: 13,480,039 (GRCm39)	N111D	probably benign	Het
Or8k40	T	C	2: 86,585,025 (GRCm39)	D19G	probably benign	Het
Pals2	C	T	6: 50,139,642 (GRCm39)	P116L	probably benign	Het
Parp4	T	A	14: 56,839,861 (GRCm39)	V523E	probably damaging	Het
Pbrm1	T	A	14: 30,786,777 (GRCm39)	D631E	probably benign	Het
Prss40	A	T	1: 34,591,481 (GRCm39)		probably null	Het
Rnf13	A	G	3: 57,741,033 (GRCm39)	N274S	probably damaging	Het
Rtl1	T	A	12: 109,560,381 (GRCm39)	Y486F	probably damaging	Het
Sec14l3	A	T	11: 4,025,263 (GRCm39)	H291L	possibly damaging	Het
Senp5	A	G	16: 31,802,593 (GRCm39)	S532P	probably damaging	Het
Sepsecs	T	C	5: 52,804,550 (GRCm39)		probably null	Het
Serpina1e	T	C	12: 103,914,338 (GRCm39)	I329V	probably benign	Het
Slc10a4-ps	T	A	5: 72,743,763 (GRCm39)		probably null	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,773 (GRCm39)		unknown	Het
Smc5	A	G	19: 23,209,247 (GRCm39)	V639A	probably benign	Het
Speg	T	A	1: 75,399,912 (GRCm39)	V2453E	probably damaging	Het
Syt2	T	A	1: 134,671,842 (GRCm39)	F207I	probably damaging	Het
Tchp	C	T	5: 114,846,857 (GRCm39)	S48L	probably benign	Het
Trim12a	A	G	7: 103,953,383 (GRCm39)	S243P	possibly damaging	Het
Ttn	T	C	2: 76,628,561 (GRCm39)	E14533G	probably damaging	Het
Vmn1r50	T	A	6: 90,084,819 (GRCm39)	M188K	probably benign	Het
Vps11	G	A	9: 44,266,376 (GRCm39)	T437I	probably damaging	Het
Xrn1	C	T	9: 95,929,843 (GRCm39)	T1498I	probably benign	Het
Zfp236	A	G	18: 82,709,701 (GRCm39)		probably null	Het
Zfp316	T	C	5: 143,249,110 (GRCm39)	D175G	unknown	Het
Zmynd11	A	G	13: 9,744,366 (GRCm39)	L256P	probably 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
R1987:Hdac4	UTSW	1	91,862,367 (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
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'- GCCGTAAGCATTCCTGAACAG -3'
(R):5'- AAGTCAGTAATGATGTGCCTATCC -3'

Sequencing Primer
(F):5'- TTCCTGAACAGCTTCCAGAG -3'
(R):5'- AATGATGTGCCTATCCCCATATTCAG -3'

Posted On

2019-05-13