Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01559:Hdac3'

90806

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hdac3

Ensembl Gene

ENSMUSG00000024454

Gene Name

histone deacetylase 3

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01559

Quality Score

Status

Chromosome

Chromosomal Location

38070024-38088073 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 38076725 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000037981 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000043498

SMART Domains

Protein: ENSMUSP00000037981
Gene: ENSMUSG00000024454

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

Coding Region Coverage

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,259,020 (GRCm39)	N2915K	possibly damaging	Het
Abca5	T	C	11: 110,163,352 (GRCm39)	N1621S	probably benign	Het
Asb18	G	A	1: 89,882,172 (GRCm39)	S122F	probably damaging	Het
Atg4c	A	G	4: 99,106,440 (GRCm39)		probably benign	Het
Bbs7	T	C	3: 36,648,659 (GRCm39)	Y363C	probably damaging	Het
Celsr2	T	C	3: 108,314,183 (GRCm39)	T1281A	possibly damaging	Het
Cers1	A	G	8: 70,775,883 (GRCm39)	N295S	probably damaging	Het
Csn1s2b	A	T	5: 87,968,810 (GRCm39)	K80*	probably null	Het
Dennd6a	A	G	14: 26,329,720 (GRCm39)	D97G	probably damaging	Het
Dmxl1	A	G	18: 50,054,005 (GRCm39)	Y2537C	probably damaging	Het
Dnah6	A	G	6: 73,001,235 (GRCm39)		probably null	Het
Exoc4	A	G	6: 33,243,011 (GRCm39)	T75A	probably damaging	Het
Fbll1	T	C	11: 35,688,372 (GRCm39)	E297G	probably damaging	Het
Gm10642	T	A	9: 70,563,874 (GRCm39)	D152V	probably damaging	Het
Kif17	A	G	4: 138,021,080 (GRCm39)	I850V	probably damaging	Het
Or2l13	T	C	16: 19,306,209 (GRCm39)	L207P	probably benign	Het
Pi4kb	T	A	3: 94,891,440 (GRCm39)	L52Q	probably benign	Het
Sec14l1	C	A	11: 117,034,110 (GRCm39)		probably null	Het
Slc28a2	T	A	2: 122,285,021 (GRCm39)	H336Q	probably damaging	Het
Usp17lb	A	G	7: 104,490,436 (GRCm39)	S164P	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
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
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

Posted On

2013-12-09