Mutagenetix > Incidental Mutation

Incidental Mutation 'R1473:Hdac4'

165883

Institutional Source

Beutler Lab

Gene Symbol

Hdac4

Ensembl Gene

ENSMUSG00000026313

Gene Name

histone deacetylase 4

Synonyms

4932408F19Rik

MMRRC Submission

039526-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1473 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91856501-92123421 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91957690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 108 (H108R)

Ref Sequence

ENSEMBL: ENSMUSP00000141018 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008995] [ENSMUST00000097644] [ENSMUST00000186002]

AlphaFold

Q6NZM9

Predicted Effect

probably benign
Transcript: ENSMUST00000008995
AA Change: H108R

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000008995
Gene: ENSMUSG00000026313
AA Change: H108R

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
AA Change: H108R

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185341

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186002
AA Change: H108R

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141018
Gene: ENSMUSG00000026313
AA Change: H108R

Domain	Start	End	E-Value	Type
Pfam:HDAC4_Gln	60	112	1.7e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187622

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212867

Meta Mutation Damage Score

0.0739

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

98% (88/90)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,056,668 (GRCm39)	D342G	probably damaging	Het
Acad8	T	C	9: 26,890,337 (GRCm39)	T293A	probably benign	Het
Adamts13	C	A	2: 26,871,765 (GRCm39)	Y310*	probably null	Het
Adcy6	T	A	15: 98,490,624 (GRCm39)	Y1102F	probably damaging	Het
Ahctf1	G	A	1: 179,603,673 (GRCm39)	T791M	probably benign	Het
Ahctf1	A	G	1: 179,626,844 (GRCm39)	V18A	probably damaging	Het
Ahcyl	T	A	16: 45,975,182 (GRCm39)	E65V	probably damaging	Het
Ampd3	T	G	7: 110,404,142 (GRCm39)	S564R	probably damaging	Het
Anapc1	A	T	2: 128,459,617 (GRCm39)	I1814K	possibly damaging	Het
Arl4c	A	T	1: 88,629,331 (GRCm39)	L19Q	probably damaging	Het
Atp6v0e2	T	C	6: 48,516,198 (GRCm39)	Y49H	probably damaging	Het
Ccdc121rt3	T	C	5: 112,502,415 (GRCm39)	T430A	probably benign	Het
Ccdc24	G	T	4: 117,727,101 (GRCm39)		probably benign	Het
Ceacam23	A	G	7: 17,639,016 (GRCm39)		noncoding transcript	Het
Clcn6	A	C	4: 148,108,613 (GRCm39)	F139V	possibly damaging	Het
Col2a1	A	G	15: 97,880,789 (GRCm39)		probably benign	Het
Crip2	T	A	12: 113,107,120 (GRCm39)	C29S	probably damaging	Het
Cyp2a4	A	C	7: 26,014,188 (GRCm39)	N455T	probably benign	Het
Dhcr7	T	C	7: 143,400,805 (GRCm39)	Y323H	probably damaging	Het
Dhcr7	A	G	7: 143,395,105 (GRCm39)	D113G	probably damaging	Het
Dnah7a	A	C	1: 53,535,173 (GRCm39)	S2696A	probably benign	Het
Dnajc12	A	G	10: 63,233,023 (GRCm39)	T55A	probably benign	Het
Drosha	G	A	15: 12,912,606 (GRCm39)	E1075K	probably benign	Het
Duox2	A	G	2: 122,117,602 (GRCm39)	S911P	possibly damaging	Het
Ephb2	G	A	4: 136,421,369 (GRCm39)	A327V	possibly damaging	Het
Espl1	C	T	15: 102,228,878 (GRCm39)	T1711I	possibly damaging	Het
Fmnl2	A	G	2: 52,748,219 (GRCm39)	K22R	possibly damaging	Het
Fzd6	T	C	15: 38,894,358 (GRCm39)	F175L	probably damaging	Het
Gm6526	A	G	14: 43,986,303 (GRCm39)	I76M	probably damaging	Het
Gm9881	A	T	16: 90,967,623 (GRCm39)	F34I	unknown	Het
Gm9892	T	C	8: 52,649,649 (GRCm39)	D148G	possibly damaging	Het
Grb10	C	T	11: 11,884,249 (GRCm39)	V486I	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
H2bc18	G	T	3: 96,177,388 (GRCm39)	L107F	probably damaging	Het
Hmcn1	G	A	1: 150,648,303 (GRCm39)	T661I	probably benign	Het
Icam1	T	A	9: 20,939,172 (GRCm39)	I515N	probably damaging	Het
Ifi208	A	G	1: 173,523,220 (GRCm39)	R497G	possibly damaging	Het
Igsf10	A	T	3: 59,226,188 (GRCm39)	V2495E	probably damaging	Het
Iqgap1	T	C	7: 80,383,759 (GRCm39)	M1102V	probably benign	Het
Itgb4	A	T	11: 115,874,873 (GRCm39)	N410I	probably benign	Het
Jup	T	C	11: 100,270,427 (GRCm39)	H360R	possibly damaging	Het
Kif20b	T	A	19: 34,951,896 (GRCm39)	S1685T	possibly damaging	Het
Lins1	T	C	7: 66,361,794 (GRCm39)		probably null	Het
Lrig1	T	A	6: 94,584,294 (GRCm39)	T917S	probably benign	Het
Mast2	A	G	4: 116,169,152 (GRCm39)	S814P	probably damaging	Het
Mast4	T	C	13: 102,909,027 (GRCm39)	T483A	probably damaging	Het
Mcpt1	T	C	14: 56,256,990 (GRCm39)	M176T	probably benign	Het
Mettl22	A	G	16: 8,291,825 (GRCm39)	Q38R	probably damaging	Het
Mrm2	T	C	5: 140,314,443 (GRCm39)	T131A	probably benign	Het
Mtcl2	A	T	2: 156,862,368 (GRCm39)	Y1520*	probably null	Het
Nde1	T	G	16: 14,003,728 (GRCm39)	F71V	probably benign	Het
Nxn	C	T	11: 76,154,013 (GRCm39)	G274D	possibly damaging	Het
Or4c123	A	T	2: 89,127,250 (GRCm39)	Y121*	probably null	Het
Or5h17	A	T	16: 58,820,275 (GRCm39)	T76S	probably benign	Het
Or6k14	G	T	1: 173,927,315 (GRCm39)	C97F	probably damaging	Het
Or6p1	T	A	1: 174,258,209 (GRCm39)	W72R	probably damaging	Het
Osbp2	T	C	11: 3,667,175 (GRCm39)		probably null	Het
Otud7a	C	A	7: 63,404,377 (GRCm39)		probably benign	Het
Phf3	G	A	1: 30,845,021 (GRCm39)	L1313F	probably damaging	Het
Pkhd1	A	T	1: 20,593,207 (GRCm39)	D1635E	probably benign	Het
Plpp1	A	G	13: 112,996,198 (GRCm39)	H171R	probably damaging	Het
Pofut1	A	G	2: 153,103,166 (GRCm39)	M172V	probably damaging	Het
Prmt5	A	G	14: 54,746,372 (GRCm39)	F580L	probably damaging	Het
Rab11fip3	A	T	17: 26,210,296 (GRCm39)	L987Q	probably damaging	Het
Retnlb	T	A	16: 48,639,028 (GRCm39)	C76*	probably null	Het
Rnf38	T	C	4: 44,131,584 (GRCm39)	N399S	probably benign	Het
Sbk1	A	G	7: 125,891,424 (GRCm39)	E286G	possibly damaging	Het
Scin	T	A	12: 40,127,501 (GRCm39)	T430S	probably benign	Het
Sgsm1	T	A	5: 113,411,123 (GRCm39)	T868S	probably benign	Het
Sipa1l1	G	A	12: 82,387,885 (GRCm39)	R37H	probably damaging	Het
Smchd1	A	T	17: 71,668,832 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Stk32c	C	T	7: 138,705,095 (GRCm39)	R23Q	probably damaging	Het
Sult1d1	A	G	5: 87,712,598 (GRCm39)	M82T	probably benign	Het
Tat	T	C	8: 110,723,550 (GRCm39)	L346P	probably damaging	Het
Tenm3	C	A	8: 48,763,660 (GRCm39)	G789V	probably damaging	Het
Thsd7a	C	T	6: 12,338,621 (GRCm39)	S1203N	probably benign	Het
Tmem191	G	A	16: 17,095,826 (GRCm39)		probably null	Het
Tmem268	A	G	4: 63,498,575 (GRCm39)	T239A	probably damaging	Het
Tmem82	A	C	4: 141,343,589 (GRCm39)	L227R	possibly damaging	Het
Ttn	A	T	2: 76,557,376 (GRCm39)	I29906N	probably damaging	Het
Txndc15	T	C	13: 55,869,387 (GRCm39)		probably benign	Het
Ubqln4	A	G	3: 88,473,152 (GRCm39)	I536V	probably benign	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Vmn2r102	A	T	17: 19,914,843 (GRCm39)	I803F	probably benign	Het
Vmn2r6	G	T	3: 64,445,579 (GRCm39)	Y715*	probably null	Het
Vmn2r74	A	T	7: 85,610,618 (GRCm39)	C25S	probably damaging	Het
Wdr38	A	G	2: 38,890,991 (GRCm39)	T261A	probably benign	Het
Zfp653	T	C	9: 21,969,516 (GRCm39)	E250G	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
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
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'- ATGGATAAAGCCCATCCTGGGCAC -3'
(R):5'- TGCTGACATAGTGAGCCACTCTCC -3'

Sequencing Primer
(F):5'- AAGGAGCTGTCACCTGTCTATAC -3'
(R):5'- GTGCTCTCTCTACAGTGGACG -3'

Posted On

2014-03-28