Mutagenetix > Incidental Mutation

Incidental Mutation 'R3809:Hdac1'

275088

Institutional Source

Beutler Lab

Gene Symbol

Hdac1

Ensembl Gene

ENSMUSG00000028800

Gene Name

histone deacetylase 1

Synonyms

HD1, RPD3, MommeD5

MMRRC Submission

040766-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3809 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129409897-129436506 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129418113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 94 (F94S)

Ref Sequence

ENSEMBL: ENSMUSP00000099657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102597]

AlphaFold

O09106

Predicted Effect

probably damaging
Transcript: ENSMUST00000102597
AA Change: F94S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099657
Gene: ENSMUSG00000028800
AA Change: F94S

Domain	Start	End	E-Value	Type
Pfam:Hist_deacetyl	18	320	5.3e-86	PFAM
low complexity region	390	402	N/A	INTRINSIC
low complexity region	417	430	N/A	INTRINSIC
low complexity region	443	471	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139305

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150105

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Histone acetylation and deacetylation, catalyzed by multisubunit complexes, play a key role in the regulation of eukaryotic gene expression. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family and is a component of the histone deacetylase complex. It also interacts with retinoblastoma tumor-suppressor protein and this complex is a key element in the control of cell proliferation and differentiation. Together with metastasis-associated protein-2, it deacetylates p53 and modulates its effect on cell growth and apoptosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos between E9.5 and E10.5. [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
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
3425401B19Rik	T	C	14: 32,385,650 (GRCm39)	Y105C	possibly damaging	Het
Aoc1l3	C	T	6: 48,964,928 (GRCm39)	P312L	possibly damaging	Het
Apol7e	A	T	15: 77,602,262 (GRCm39)	T287S	probably benign	Het
Arhgap12	A	T	18: 6,037,057 (GRCm39)	N561K	probably benign	Het
Armc3	G	T	2: 19,305,476 (GRCm39)	A757S	probably damaging	Het
Baz2b	A	T	2: 59,799,240 (GRCm39)	S295T	probably benign	Het
Brd4	T	A	17: 32,430,244 (GRCm39)	K686N	possibly damaging	Het
Btnl6	T	C	17: 34,727,202 (GRCm39)	T443A	probably benign	Het
Cacna1g	T	C	11: 94,306,922 (GRCm39)	T1801A	probably damaging	Het
Celsr2	G	A	3: 108,310,555 (GRCm39)	T1509I	possibly damaging	Het
Cers1	A	G	8: 70,782,660 (GRCm39)	D10G	possibly damaging	Het
Cntnap3	A	G	13: 64,929,618 (GRCm39)	V527A	probably damaging	Het
Cog1	G	T	11: 113,545,836 (GRCm39)	M370I	probably benign	Het
Col6a6	C	G	9: 105,657,891 (GRCm39)	V774L	probably damaging	Het
Csf1r	T	A	18: 61,245,836 (GRCm39)	S264R	probably benign	Het
Ctnna2	A	T	6: 76,931,740 (GRCm39)	V620D	probably damaging	Het
Eif2b4	A	G	5: 31,348,512 (GRCm39)	S88P	possibly damaging	Het
Frmd4b	G	A	6: 97,300,690 (GRCm39)	L214F	possibly damaging	Het
Fstl1	T	A	16: 37,647,113 (GRCm39)	L161Q	probably damaging	Het
Hlf	T	C	11: 90,278,929 (GRCm39)	D45G	probably benign	Het
Hps3	A	T	3: 20,072,976 (GRCm39)	M501K	probably damaging	Het
Ighv14-4	A	G	12: 114,140,174 (GRCm39)	Y79H	probably damaging	Het
Ip6k1	T	A	9: 107,923,086 (GRCm39)	V406D	probably damaging	Het
Iqcf1	T	C	9: 106,379,077 (GRCm39)	S29P	probably benign	Het
Itga11	A	G	9: 62,678,664 (GRCm39)	T944A	probably benign	Het
Kcnj12	A	G	11: 60,961,103 (GRCm39)	N467S	probably benign	Het
Klhdc3	T	A	17: 46,988,858 (GRCm39)	N111Y	possibly damaging	Het
Kmt2c	T	C	5: 25,614,136 (GRCm39)	R195G	possibly damaging	Het
Lin9	A	G	1: 180,486,676 (GRCm39)	I81V	probably null	Het
Lrp2	T	C	2: 69,331,892 (GRCm39)	D1621G	probably damaging	Het
Med15	C	T	16: 17,473,598 (GRCm39)		probably benign	Het
Neb	A	G	2: 52,146,801 (GRCm39)	I2821T	possibly damaging	Het
Or14j6	T	C	17: 38,214,464 (GRCm39)	V9A	probably benign	Het
Or2a25	A	T	6: 42,889,271 (GRCm39)	K271N	probably damaging	Het
Or4c112	G	T	2: 88,853,770 (GRCm39)	H192Q	probably benign	Het
Or56b1	A	T	7: 104,285,540 (GRCm39)	I220L	possibly damaging	Het
Or8b3b	C	T	9: 38,584,159 (GRCm39)	V207I	probably benign	Het
Paxip1	A	G	5: 27,977,027 (GRCm39)		probably benign	Het
Pfas	T	C	11: 68,880,779 (GRCm39)		probably benign	Het
Pfdn1	C	T	18: 36,584,145 (GRCm39)	G63D	probably damaging	Het
Pgghg	T	C	7: 140,525,208 (GRCm39)	F405L	probably damaging	Het
Plcd3	T	C	11: 102,992,209 (GRCm39)	M50V	probably null	Het
Plekha8	C	A	6: 54,596,334 (GRCm39)	S198R	probably benign	Het
Ppp4c	C	T	7: 126,386,499 (GRCm39)	G166D	probably damaging	Het
Rassf2	T	C	2: 131,840,180 (GRCm39)		probably null	Het
Rnf217	T	A	10: 31,379,804 (GRCm39)	I473F	possibly damaging	Het
Sec16a	G	C	2: 26,331,825 (GRCm39)	N63K	possibly damaging	Het
Sik3	A	G	9: 46,130,784 (GRCm39)	D1240G	probably benign	Het
Slamf1	A	G	1: 171,625,745 (GRCm39)	D307G	probably null	Het
Slc2a3	A	G	6: 122,709,388 (GRCm39)	I337T	probably benign	Het
Tent4a	A	G	13: 69,661,115 (GRCm39)	V51A	probably damaging	Het
Tinag	C	T	9: 76,859,187 (GRCm39)	D474N	probably benign	Het
Ublcp1	A	G	11: 44,349,109 (GRCm39)	F242L	probably benign	Het
Ucp1	C	A	8: 84,017,270 (GRCm39)	A20D	probably damaging	Het
Ugt1a7c	C	T	1: 88,023,104 (GRCm39)	R88W	possibly damaging	Het
Wipf3	A	G	6: 54,458,780 (GRCm39)	D45G	probably damaging	Het
Zfp592	G	A	7: 80,674,280 (GRCm39)	A415T	probably benign	Het

Other mutations in Hdac1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03169:Hdac1	APN	4	129,412,624 (GRCm39)	missense	probably null	0.08
R0783:Hdac1	UTSW	4	129,411,902 (GRCm39)	missense	probably benign	0.06
R1771:Hdac1	UTSW	4	129,415,221 (GRCm39)	missense	probably damaging	1.00
R1985:Hdac1	UTSW	4	129,422,753 (GRCm39)	missense	possibly damaging	0.86
R2119:Hdac1	UTSW	4	129,416,157 (GRCm39)	missense	probably benign	0.00
R2175:Hdac1	UTSW	4	129,428,463 (GRCm39)	missense	probably damaging	1.00
R2415:Hdac1	UTSW	4	129,416,754 (GRCm39)	critical splice donor site	probably null
R5243:Hdac1	UTSW	4	129,410,646 (GRCm39)	intron	probably benign
R5276:Hdac1	UTSW	4	129,422,716 (GRCm39)	splice site	probably null
R6274:Hdac1	UTSW	4	129,412,902 (GRCm39)	missense	probably damaging	1.00
R6843:Hdac1	UTSW	4	129,436,383 (GRCm39)	missense	probably damaging	1.00
R7599:Hdac1	UTSW	4	129,411,259 (GRCm39)	nonsense	probably null
R7816:Hdac1	UTSW	4	129,411,888 (GRCm39)	missense	probably damaging	0.99
R9169:Hdac1	UTSW	4	129,428,499 (GRCm39)	missense	probably damaging	1.00
Z1176:Hdac1	UTSW	4	129,436,409 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- GGTTGAAAGTCAAACCCCAC -3'
(R):5'- GAACCCAAGCTTTCTGAATCTAAACTG -3'

Sequencing Primer
(F):5'- CAGAATCACTCGTAATGAAGGC -3'
(R):5'- GGTCCAGAGTTCAAATCCCAG -3'

Posted On

2015-04-02