Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4520001:Hdac3'

555207

Institutional Source

Beutler Lab

Gene Symbol

Hdac3

Ensembl Gene

ENSMUSG00000024454

Gene Name

histone deacetylase 3

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4520001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38070024-38088073 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38074817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 308 (T308I)

Ref Sequence

ENSEMBL: ENSMUSP00000037981 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043498]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000043498
AA Change: T308I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000037981
Gene: ENSMUSG00000024454
AA Change: T308I

Domain	Start	End	E-Value	Type
Pfam:Hist_deacetyl	11	315	1.2e-82	PFAM

Coding Region Coverage

1x: 93.5%
3x: 91.1%
10x: 86.1%
20x: 75.5%

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 the histone deacetylase/acuc/apha family. It has histone deacetylase activity and represses transcription when tethered to a promoter. It may participate in the regulation of transcription through its binding with the zinc-finger transcription factor YY1. This protein can also down-regulate p53 function and thus modulate cell growth and apoptosis. This gene is regarded as a potential tumor suppressor gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Disruption of this gene results in embryonic death at or around the time of gastrulation. Structural and functional abnormalities are also reported in mitochondria. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,117,133 (GRCm39)	N1000S	probably damaging	Het
Adgrb1	A	G	15: 74,413,508 (GRCm39)	D564G	probably damaging	Het
Ankmy2	A	G	12: 36,207,390 (GRCm39)	E12G	probably benign	Het
Arid1a	C	T	4: 133,409,227 (GRCm39)	S1375N	unknown	Het
Atp1a2	G	A	1: 172,106,941 (GRCm39)	A793V	probably benign	Het
Atp8b1	T	C	18: 64,701,251 (GRCm39)	Y369C	probably benign	Het
Catsperg2	A	G	7: 29,409,586 (GRCm39)	Y536H	possibly damaging	Het
Ccdc178	A	G	18: 22,200,470 (GRCm39)	Y445H	probably damaging	Het
Cep170	G	T	1: 176,607,765 (GRCm39)	N230K	unknown	Het
Cftr	A	G	6: 18,277,842 (GRCm39)	I977V	probably benign	Het
Chek2	A	G	5: 111,011,195 (GRCm39)	Y331C	probably damaging	Het
Chst13	A	T	6: 90,286,167 (GRCm39)	I265K	probably benign	Het
Coil	T	C	11: 88,872,437 (GRCm39)	M266T	probably benign	Het
Col16a1	T	A	4: 129,945,456 (GRCm39)	C28S	unknown	Het
Col3a1	T	C	1: 45,374,943 (GRCm39)		probably null	Het
Csmd1	C	T	8: 15,956,023 (GRCm39)	V3395M	probably benign	Het
Cyp51	A	G	5: 4,151,200 (GRCm39)	V143A	probably damaging	Het
Eif2ak1	C	T	5: 143,836,027 (GRCm39)	Q573*	probably null	Het
Eif2ak4	T	A	2: 118,292,808 (GRCm39)	I1344N	probably damaging	Het
Fhip1a	G	A	3: 85,579,779 (GRCm39)	Q809*	probably null	Het
Gen1	A	G	12: 11,291,509 (GRCm39)	V825A	probably benign	Het
Gm28042	A	T	2: 119,870,148 (GRCm39)	K696*	probably null	Het
Gm4952	A	G	19: 12,602,048 (GRCm39)	Y152C	probably benign	Het
Hpx	T	C	7: 105,241,341 (GRCm39)	T357A	probably benign	Het
Hscb	A	T	5: 110,983,851 (GRCm39)	Y139N	probably damaging	Het
Kcnk9	T	A	15: 72,384,332 (GRCm39)	H282L	probably benign	Het
Kdm2b	G	A	5: 123,079,110 (GRCm39)	T287M	probably damaging	Het
Kif19a	C	T	11: 114,672,034 (GRCm39)	T207M	probably damaging	Het
Kmt2c	A	C	5: 25,520,664 (GRCm39)	N1815K	probably benign	Het
Ktn1	C	T	14: 47,923,774 (GRCm39)	T511M	probably damaging	Het
Lrp1	C	G	10: 127,443,843 (GRCm39)	Q141H	possibly damaging	Het
Lrrc43	T	C	5: 123,630,530 (GRCm39)	V131A	possibly damaging	Het
Man1b1	T	A	2: 25,233,282 (GRCm39)	H218Q	probably damaging	Het
Mapk8ip2	T	A	15: 89,344,900 (GRCm39)	C766S	probably damaging	Het
Mfn1	A	G	3: 32,615,695 (GRCm39)	N353D	probably benign	Het
Mtcl1	A	T	17: 66,692,907 (GRCm39)	L474Q	possibly damaging	Het
Mtr	T	A	13: 12,212,871 (GRCm39)	R915*	probably null	Het
Myh6	C	A	14: 55,187,581 (GRCm39)	V1263L	probably benign	Het
Nt5m	C	A	11: 59,765,415 (GRCm39)	L148M	probably benign	Het
Or4a67	A	G	2: 88,597,921 (GRCm39)	V246A	possibly damaging	Het
Or51t4	A	T	7: 102,597,921 (GRCm39)	D83V	probably damaging	Het
Or8k21	T	C	2: 86,145,142 (GRCm39)	I163V	possibly damaging	Het
Pbrm1	T	A	14: 30,789,818 (GRCm39)	F811I	probably damaging	Het
Pcnt	A	G	10: 76,256,069 (GRCm39)	S724P	probably damaging	Het
Pfdn5	C	A	15: 102,237,158 (GRCm39)	D98E	probably benign	Het
Ptprs	G	A	17: 56,721,980 (GRCm39)	P1715S	probably damaging	Het
Rtkn2	T	A	10: 67,823,291 (GRCm39)	L65Q	probably damaging	Het
Scn2a	G	A	2: 65,518,763 (GRCm39)	R379H	probably damaging	Het
Scn5a	G	T	9: 119,363,636 (GRCm39)	D501E	possibly damaging	Het
Spn	C	A	7: 126,735,611 (GRCm39)	G299W	probably damaging	Het
St6galnac1	T	C	11: 116,660,175 (GRCm39)	N46S	probably benign	Het
Stx19	A	G	16: 62,642,871 (GRCm39)	D229G	probably benign	Het
Tmc6	A	T	11: 117,663,556 (GRCm39)	M552K	possibly damaging	Het
Tnpo3	G	C	6: 29,555,221 (GRCm39)	D787E	possibly damaging	Het
Tyw5	T	C	1: 57,427,674 (GRCm39)	Y310C	probably damaging	Het
Vmn2r15	A	G	5: 109,434,871 (GRCm39)	F611S	probably damaging	Het
Vmn2r49	C	T	7: 9,722,988 (GRCm39)	M95I	probably benign	Het
Wfdc8	A	G	2: 164,445,223 (GRCm39)	S131P	probably benign	Het
Zfp407	A	T	18: 84,450,545 (GRCm39)	M1597K	probably damaging	Het

Other mutations in Hdac3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Hdac3	APN	18	38,087,938 (GRCm39)	missense	possibly damaging	0.95
IGL00570:Hdac3	APN	18	38,077,174 (GRCm39)	splice site	probably benign
IGL01511:Hdac3	APN	18	38,085,648 (GRCm39)	missense	probably benign	0.16
IGL01559:Hdac3	APN	18	38,076,725 (GRCm39)	splice site	probably benign
IGL01688:Hdac3	APN	18	38,087,932 (GRCm39)	missense	possibly damaging	0.53
IGL02529:Hdac3	APN	18	38,077,185 (GRCm39)	missense	probably benign	0.20
IGL02559:Hdac3	APN	18	38,087,944 (GRCm39)	missense	probably damaging	1.00
IGL02702:Hdac3	APN	18	38,074,147 (GRCm39)	missense	probably benign	0.00
R0173:Hdac3	UTSW	18	38,074,806 (GRCm39)	missense	probably damaging	0.97
R0325:Hdac3	UTSW	18	38,074,005 (GRCm39)	critical splice donor site	probably null
R0445:Hdac3	UTSW	18	38,076,777 (GRCm39)	missense	probably damaging	0.99
R1341:Hdac3	UTSW	18	38,087,766 (GRCm39)	missense	probably damaging	1.00
R2068:Hdac3	UTSW	18	38,076,569 (GRCm39)	missense	probably damaging	1.00
R2761:Hdac3	UTSW	18	38,078,779 (GRCm39)	missense	probably benign	0.19
R3805:Hdac3	UTSW	18	38,078,745 (GRCm39)	critical splice donor site	probably null
R4467:Hdac3	UTSW	18	38,085,566 (GRCm39)	missense	probably benign	0.03
R5928:Hdac3	UTSW	18	38,074,394 (GRCm39)	intron	probably benign
R5929:Hdac3	UTSW	18	38,074,394 (GRCm39)	intron	probably benign
R6341:Hdac3	UTSW	18	38,077,217 (GRCm39)	missense	probably damaging	0.99
R6679:Hdac3	UTSW	18	38,077,986 (GRCm39)	missense	possibly damaging	0.59
R6843:Hdac3	UTSW	18	38,075,007 (GRCm39)	missense	probably benign
R7262:Hdac3	UTSW	18	38,078,616 (GRCm39)	missense	probably damaging	0.99
R7559:Hdac3	UTSW	18	38,078,569 (GRCm39)	missense	possibly damaging	0.94
R7585:Hdac3	UTSW	18	38,078,408 (GRCm39)	missense	probably damaging	1.00
R7652:Hdac3	UTSW	18	38,087,972 (GRCm39)	unclassified	probably benign
R8434:Hdac3	UTSW	18	38,074,475 (GRCm39)	missense	possibly damaging	0.68
R9400:Hdac3	UTSW	18	38,070,677 (GRCm39)	missense	possibly damaging	0.71
Z1177:Hdac3	UTSW	18	38,078,804 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCACAGGGATTTAGTCTGCAG -3'
(R):5'- CTAGTCCTCTTGTTTCTAACAGGG -3'

Sequencing Primer
(F):5'- CAGGGATTTAGTCTGCAGAGCTACC -3'
(R):5'- CCTCTTGTTTCTAACAGGGAATGTG -3'

Posted On

2019-06-07