Mutagenetix > Incidental Mutation

Incidental Mutation 'R0445:Hdac3'

39347

Institutional Source

Beutler Lab

Gene Symbol

Hdac3

Ensembl Gene

ENSMUSG00000024454

Gene Name

histone deacetylase 3

Synonyms

MMRRC Submission

038646-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0445 (G1)

Quality Score

171

Status

Validated

Chromosome

Chromosomal Location

38070024-38088073 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38076777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 240 (I240T)

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: I240T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037981
Gene: ENSMUSG00000024454
AA Change: I240T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144471

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153945

Meta Mutation Damage Score

0.9047

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

100% (77/77)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	C	17: 48,400,542 (GRCm39)		probably null	Het
A2m	C	T	6: 121,634,914 (GRCm39)	T687I	probably damaging	Het
Acsbg1	A	G	9: 54,523,179 (GRCm39)	S483P	probably damaging	Het
Adam22	T	A	5: 8,230,591 (GRCm39)		probably benign	Het
Aggf1	A	G	13: 95,490,509 (GRCm39)	V595A	possibly damaging	Het
Aplf	A	T	6: 87,640,734 (GRCm39)	L71I	probably damaging	Het
Arid3c	G	T	4: 41,725,172 (GRCm39)	P292T	probably benign	Het
Bltp1	T	C	3: 37,054,214 (GRCm39)	V3111A	probably damaging	Het
Brms1l	T	A	12: 55,908,191 (GRCm39)	Y213*	probably null	Het
C87436	T	A	6: 86,426,832 (GRCm39)	S332T	possibly damaging	Het
Cad	G	A	5: 31,230,053 (GRCm39)	A1454T	probably benign	Het
Cdkn3	T	C	14: 47,004,857 (GRCm39)		probably null	Het
Cnot1	A	G	8: 96,486,836 (GRCm39)	C624R	probably damaging	Het
Cntnap5c	A	T	17: 58,411,738 (GRCm39)	I541F	probably benign	Het
Dennd1b	A	G	1: 139,095,503 (GRCm39)		probably benign	Het
Dscam	A	T	16: 96,573,703 (GRCm39)	I753N	probably damaging	Het
Eef2	C	CN	10: 81,014,604 (GRCm39)		probably null	Het
Epg5	T	A	18: 78,057,399 (GRCm39)	V1826D	possibly damaging	Het
Epha8	T	C	4: 136,659,711 (GRCm39)	Y755C	probably damaging	Het
Esco1	A	T	18: 10,574,989 (GRCm39)	N694K	probably damaging	Het
Fermt3	T	C	19: 6,980,667 (GRCm39)	H300R	probably benign	Het
Galnt5	C	A	2: 57,888,962 (GRCm39)	F187L	probably benign	Het
Gm17067	A	G	7: 42,358,046 (GRCm39)	I152T	probably benign	Het
Gnb3	T	C	6: 124,814,218 (GRCm39)	D154G	possibly damaging	Het
Gpr155	G	A	2: 73,200,488 (GRCm39)		probably benign	Het
Ifitm1	A	T	7: 140,548,354 (GRCm39)		probably null	Het
Kif1b	A	T	4: 149,272,466 (GRCm39)	L1455Q	probably benign	Het
Krt1	A	C	15: 101,756,056 (GRCm39)	L388R	probably damaging	Het
Lrp1	T	A	10: 127,426,505 (GRCm39)	K635*	probably null	Het
Map3k2	A	G	18: 32,350,263 (GRCm39)	Y371C	probably damaging	Het
Mcu	T	C	10: 59,292,467 (GRCm39)		probably benign	Het
Mkrn1	C	T	6: 39,381,788 (GRCm39)	V167I	probably benign	Het
Mrpl9	T	A	3: 94,352,198 (GRCm39)		probably benign	Het
Naip2	T	C	13: 100,298,395 (GRCm39)	Y547C	possibly damaging	Het
Nup88	G	A	11: 70,838,555 (GRCm39)	T487I	probably benign	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Obscn	C	T	11: 58,890,161 (GRCm39)	R7457H	unknown	Het
Or13c25	G	A	4: 52,910,849 (GRCm39)	T315M	probably benign	Het
Or2y13	T	A	11: 49,414,784 (GRCm39)	V78E	probably damaging	Het
Paf1	T	C	7: 28,095,113 (GRCm39)	S118P	probably damaging	Het
Parp4	T	A	14: 56,840,205 (GRCm39)		probably null	Het
Pcdh15	A	T	10: 74,178,381 (GRCm39)	Y157F	probably damaging	Het
Pex10	G	A	4: 155,153,531 (GRCm39)		probably null	Het
Phrf1	C	T	7: 140,827,244 (GRCm39)		probably benign	Het
Polr3a	G	T	14: 24,504,989 (GRCm39)	D1090E	probably benign	Het
Ppfia4	A	C	1: 134,255,027 (GRCm39)	L276R	probably benign	Het
Rdh16f1	T	C	10: 127,626,736 (GRCm39)	L263S	probably benign	Het
Ryr3	T	C	2: 112,696,399 (GRCm39)	D967G	probably benign	Het
Shc1	G	T	3: 89,333,844 (GRCm39)	A226S	probably damaging	Het
Slc4a1	A	G	11: 102,245,192 (GRCm39)	V585A	probably benign	Het
Stk38l	T	A	6: 146,677,184 (GRCm39)	S461T	probably benign	Het
Tbkbp1	A	T	11: 97,040,295 (GRCm39)	S40T	probably damaging	Het
Tet1	A	G	10: 62,715,720 (GRCm39)	M25T	probably benign	Het
Themis	A	G	10: 28,658,007 (GRCm39)	R192G	probably damaging	Het
Tmem144	T	C	3: 79,732,661 (GRCm39)	T206A	probably benign	Het
Tmem74b	G	A	2: 151,548,879 (GRCm39)	R202H	probably damaging	Het
Trpm1	T	C	7: 63,894,590 (GRCm39)		probably benign	Het
Vars1	A	G	17: 35,230,785 (GRCm39)	H557R	probably benign	Het
Zbtb12	C	A	17: 35,115,277 (GRCm39)	A354E	possibly damaging	Het
Zfp143	A	T	7: 109,660,324 (GRCm39)		probably benign	Het
Zftraf1	T	C	15: 76,532,457 (GRCm39)	H217R	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
PIT4520001:Hdac3	UTSW	18	38,074,817 (GRCm39)	missense	probably damaging	1.00
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
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'- AGAACATCAGTGTCCTCTAGCGTCC -3'
(R):5'- GCCGCTACTATTGTCTCAATGTGCC -3'

Sequencing Primer
(F):5'- CTTCCTCACCAACTTAGGGAGC -3'
(R):5'- gaatggccttcagagggac -3'

Posted On

2013-05-23