Mutagenetix > Incidental Mutation

Incidental Mutation 'R0134:Hdac2'

21829

Institutional Source

Beutler Lab

Gene Symbol

Hdac2

Ensembl Gene

ENSMUSG00000019777

Gene Name

histone deacetylase 2

Synonyms

D10Wsu179e, Yy1bp

MMRRC Submission

038419-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0134 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

36850540-36877885 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36865180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 131 (D131E)

Ref Sequence

ENSEMBL: ENSMUSP00000019911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019911] [ENSMUST00000105510]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000019911
AA Change: D131E

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000019911
Gene: ENSMUSG00000019777
AA Change: D131E

Domain	Start	End	E-Value	Type
Pfam:Hist_deacetyl	19	321	2.5e-88	PFAM
low complexity region	392	403	N/A	INTRINSIC
low complexity region	418	431	N/A	INTRINSIC
low complexity region	448	469	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105510
AA Change: D131E

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000101149
Gene: ENSMUSG00000019777
AA Change: D131E

Domain	Start	End	E-Value	Type
Pfam:Hist_deacetyl	19	297	8.9e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128031

Meta Mutation Damage Score

0.0746

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.4%
20x: 93.3%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the histone deacetylase family. Histone deacetylases act via the formation of large multiprotein complexes, and are responsible for the deacetylation of lysine residues at the N-terminal regions of core histones (H2A, H2B, H3 and H4). This protein forms transcriptional repressor complexes by associating with many different proteins, including YY1, a mammalian zinc-finger transcription factor. Thus, it plays an important role in transcriptional regulation, cell cycle progression and developmental events. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic and postnatal lethality accompanied with a transient decrease in body size and increase in heart size and cardiomyocyte proliferation that is overcome by 2 months of age in surviving mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	C	19: 21,575,565 (GRCm39)		probably benign	Het
Abca16	T	A	7: 120,139,378 (GRCm39)	L1470Q	probably damaging	Het
Arhgap23	G	T	11: 97,335,154 (GRCm39)	V70L	probably benign	Het
Bicd1	T	C	6: 149,414,448 (GRCm39)	I387T	probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
Cd59b	G	A	2: 103,909,286 (GRCm39)		probably null	Het
Ddx50	A	T	10: 62,457,156 (GRCm39)		probably benign	Het
Dele1	G	A	18: 38,394,317 (GRCm39)	V505I	probably benign	Het
Dnlz	T	C	2: 26,241,380 (GRCm39)	N116S	probably damaging	Het
Efcab14	T	C	4: 115,597,728 (GRCm39)	F108L	probably damaging	Het
Esyt2	A	G	12: 116,331,330 (GRCm39)	N736S	probably damaging	Het
Exoc4	A	G	6: 33,948,881 (GRCm39)	D908G	possibly damaging	Het
Garnl3	T	C	2: 32,896,816 (GRCm39)	T608A	possibly damaging	Het
Hes1	T	C	16: 29,886,068 (GRCm39)	V224A	probably damaging	Het
Hps1	G	T	19: 42,754,619 (GRCm39)	Q277K	probably damaging	Het
Ighv15-2	T	G	12: 114,528,657 (GRCm39)		probably benign	Het
Il3	A	G	11: 54,156,506 (GRCm39)		probably null	Het
Itgae	A	C	11: 73,002,168 (GRCm39)	M91L	probably benign	Het
Kctd21	T	A	7: 96,997,298 (GRCm39)	I257N	probably benign	Het
Kif16b	A	T	2: 142,514,295 (GRCm39)	S1215T	probably benign	Het
Lhx9	A	T	1: 138,766,417 (GRCm39)	C124S	probably damaging	Het
Lipo4	A	G	19: 33,479,006 (GRCm39)	V278A	probably benign	Het
Lrp1b	T	C	2: 40,486,995 (GRCm39)	E142G	probably damaging	Het
Macf1	T	C	4: 123,326,636 (GRCm39)	M2835V	possibly damaging	Het
Map9	G	A	3: 82,267,290 (GRCm39)		probably benign	Het
Miox	C	T	15: 89,218,657 (GRCm39)		probably benign	Het
Mndal	A	T	1: 173,685,079 (GRCm39)		probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nepn	A	T	10: 52,276,533 (GRCm39)	T29S	probably damaging	Het
Nlgn1	C	T	3: 25,490,089 (GRCm39)	C546Y	probably damaging	Het
Or14a260	A	G	7: 85,984,803 (GRCm39)	I267T	probably benign	Het
Or8k53	T	C	2: 86,178,072 (GRCm39)	I13V	possibly damaging	Het
Pdgfra	A	G	5: 75,327,172 (GRCm39)	D123G	probably damaging	Het
Plekhn1	T	C	4: 156,312,700 (GRCm39)	R53G	probably benign	Het
Pnp2	T	C	14: 51,200,634 (GRCm39)	F100S	probably damaging	Het
Prickle1	A	G	15: 93,408,658 (GRCm39)	L47P	possibly damaging	Het
Ptar1	T	A	19: 23,695,459 (GRCm39)	C309S	probably benign	Het
Rimoc1	T	C	15: 4,015,776 (GRCm39)	K263E	probably damaging	Het
Rxfp1	A	G	3: 79,564,783 (GRCm39)	S327P	probably damaging	Het
Siah2	A	G	3: 58,583,536 (GRCm39)	V250A	probably damaging	Het
Siglecg	G	A	7: 43,060,595 (GRCm39)	G325D	probably damaging	Het
Slc10a7	T	A	8: 79,423,787 (GRCm39)		probably null	Het
Slc9a1	A	G	4: 133,147,916 (GRCm39)	K645E	probably benign	Het
Smarca4	T	C	9: 21,548,620 (GRCm39)	L302P	probably damaging	Het
Smyd1	G	T	6: 71,193,749 (GRCm39)	T392N	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Tenm3	A	T	8: 49,127,507 (GRCm39)	L57Q	probably damaging	Het
Tep1	C	T	14: 51,067,150 (GRCm39)	V2269I	possibly damaging	Het
Tpd52l1	A	G	10: 31,255,252 (GRCm39)	S32P	probably damaging	Het
Tsfm	A	G	10: 126,858,798 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,540,468 (GRCm39)	R34173W	probably damaging	Het
Ttn	C	A	2: 76,623,474 (GRCm39)	V15368L	possibly damaging	Het
Vmn2r13	C	A	5: 109,322,915 (GRCm39)	V125L	probably benign	Het
Vps13b	T	C	15: 35,887,407 (GRCm39)	I3272T	probably benign	Het
Zfp108	A	G	7: 23,959,892 (GRCm39)	H161R	probably benign	Het
Zfp518b	A	G	5: 38,832,002 (GRCm39)	M1T	probably null	Het

Other mutations in Hdac2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Hdac2	APN	10	36,873,067 (GRCm39)	missense	probably damaging	1.00
IGL00827:Hdac2	APN	10	36,873,110 (GRCm39)	missense	probably benign
IGL02971:Hdac2	APN	10	36,876,370 (GRCm39)	nonsense	probably null
checkmate	UTSW	10	36,869,895 (GRCm39)	missense	probably benign
failure	UTSW	10	36,865,180 (GRCm39)	missense	probably benign	0.16
misstep	UTSW	10	36,862,370 (GRCm39)	missense	possibly damaging	0.59
R0123:Hdac2	UTSW	10	36,865,180 (GRCm39)	missense	probably benign	0.16
R0167:Hdac2	UTSW	10	36,876,368 (GRCm39)	missense	probably benign	0.04
R0225:Hdac2	UTSW	10	36,865,180 (GRCm39)	missense	probably benign	0.16
R0455:Hdac2	UTSW	10	36,867,832 (GRCm39)	missense	probably damaging	1.00
R0480:Hdac2	UTSW	10	36,850,788 (GRCm39)	missense	probably damaging	1.00
R0482:Hdac2	UTSW	10	36,865,130 (GRCm39)	intron	probably benign
R0535:Hdac2	UTSW	10	36,869,895 (GRCm39)	missense	probably benign
R1101:Hdac2	UTSW	10	36,867,805 (GRCm39)	missense	probably damaging	1.00
R1297:Hdac2	UTSW	10	36,862,370 (GRCm39)	missense	possibly damaging	0.59
R4839:Hdac2	UTSW	10	36,873,462 (GRCm39)	missense	probably benign	0.04
R6109:Hdac2	UTSW	10	36,862,385 (GRCm39)	missense	probably null	0.83
R6447:Hdac2	UTSW	10	36,869,812 (GRCm39)	missense	possibly damaging	0.95
R6519:Hdac2	UTSW	10	36,865,252 (GRCm39)	missense	probably damaging	1.00
R6893:Hdac2	UTSW	10	36,873,003 (GRCm39)	missense	probably damaging	1.00
R7461:Hdac2	UTSW	10	36,865,232 (GRCm39)	missense	probably damaging	1.00
R7613:Hdac2	UTSW	10	36,865,232 (GRCm39)	missense	probably damaging	1.00
R8117:Hdac2	UTSW	10	36,873,966 (GRCm39)	missense	probably damaging	1.00
R8187:Hdac2	UTSW	10	36,864,132 (GRCm39)	missense	probably damaging	1.00
R8360:Hdac2	UTSW	10	36,874,059 (GRCm39)	missense	probably benign	0.00
R8974:Hdac2	UTSW	10	36,862,340 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAAACCTTTTGTGCTTACACATGGC -3'
(R):5'- GAGACCATTTACCGGCAGTCTCAG -3'

Sequencing Primer
(F):5'- CATGGCATATTTAATAGGGCTTCGC -3'
(R):5'- CCCTGGAAGACTCAGCATTAATC -3'

Posted On

2013-04-12