Mutagenetix > Incidental Mutation

Incidental Mutation 'R7599:Hdac1'

587892

Institutional Source

Beutler Lab

Gene Symbol

Hdac1

Ensembl Gene

ENSMUSG00000028800

Gene Name

histone deacetylase 1

Synonyms

HD1, RPD3, MommeD5

MMRRC Submission

045673-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7599 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129409897-129436506 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 129411259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 421 (S421*)

Ref Sequence

ENSEMBL: ENSMUSP00000099657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062356] [ENSMUST00000102597]

AlphaFold

O09106

Predicted Effect

probably benign
Transcript: ENSMUST00000062356

SMART Domains

Protein: ENSMUSP00000055637
Gene: ENSMUSG00000047945

Domain	Start	End	E-Value	Type
Pfam:MARCKS	2	48	1.8e-11	PFAM
Pfam:MARCKS	42	200	1.6e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000102597
AA Change: S421*

SMART Domains

Protein: ENSMUSP00000099657
Gene: ENSMUSG00000028800
AA Change: S421*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 90,009,256 (GRCm39)	S136G	probably benign	Het
Apba3	T	A	10: 81,108,180 (GRCm39)	N445K	probably damaging	Het
Aqp6	A	G	15: 99,501,652 (GRCm39)	K237E	possibly damaging	Het
Arhgap23	A	G	11: 97,391,169 (GRCm39)	T1229A	probably benign	Het
Bpifb1	T	C	2: 154,056,071 (GRCm39)	I379T	probably damaging	Het
Bpnt2	G	A	4: 4,778,207 (GRCm39)	T177I	probably damaging	Het
Ccdc169	A	G	3: 55,047,530 (GRCm39)	D7G	probably damaging	Het
Cyp2f2	T	A	7: 26,830,784 (GRCm39)		probably null	Het
Daam2	T	A	17: 49,787,755 (GRCm39)	K453*	probably null	Het
Dennd4c	T	C	4: 86,729,849 (GRCm39)	L817P	probably damaging	Het
Efcab6	T	A	15: 83,755,189 (GRCm39)	R1376W	probably damaging	Het
Esrra	G	T	19: 6,891,214 (GRCm39)	A182E	possibly damaging	Het
Fam234b	T	A	6: 135,203,874 (GRCm39)	V392E	probably damaging	Het
Fanca	A	G	8: 123,997,999 (GRCm39)	V1229A	probably benign	Het
Fdps	G	T	3: 89,006,693 (GRCm39)	Q66K	probably benign	Het
Fer1l6	T	A	15: 58,499,438 (GRCm39)	D1269E	probably benign	Het
Foxred1	G	A	9: 35,116,932 (GRCm39)	R353W	probably damaging	Het
Gabrg2	C	T	11: 41,858,451 (GRCm39)	V226I	possibly damaging	Het
Gcnt2	C	A	13: 41,014,343 (GRCm39)	C171*	probably null	Het
Glyat	C	A	19: 12,617,172 (GRCm39)	A8E	probably damaging	Het
Golgb1	C	A	16: 36,695,758 (GRCm39)	R86S	unknown	Het
Hc	T	A	2: 34,940,431 (GRCm39)	T136S	probably damaging	Het
Hmcn2	G	T	2: 31,246,298 (GRCm39)	A756S	possibly damaging	Het
Igkv8-26	A	G	6: 70,170,571 (GRCm39)	N54S	probably benign	Het
Itgae	T	A	11: 73,012,786 (GRCm39)	V706E	possibly damaging	Het
Itgax	G	A	7: 127,747,262 (GRCm39)	V992M	probably damaging	Het
Klk10	A	G	7: 43,433,851 (GRCm39)	D221G	probably benign	Het
Klkb1	T	C	8: 45,731,150 (GRCm39)	I205V	probably benign	Het
Kpna2	T	C	11: 106,889,583 (GRCm39)	N8S	probably null	Het
L3mbtl1	A	C	2: 162,806,434 (GRCm39)	T442P	possibly damaging	Het
Lrp1b	C	T	2: 40,551,561 (GRCm39)	C4181Y		Het
Mcat	T	C	15: 83,431,872 (GRCm39)	Y332C	probably damaging	Het
Mecom	T	C	3: 30,010,534 (GRCm39)	D648G	probably damaging	Het
Mesp2	A	T	7: 79,460,717 (GRCm39)	D14V	probably damaging	Het
Mlh3	A	T	12: 85,314,973 (GRCm39)	Y404*	probably null	Het
Mterf3	A	T	13: 67,065,212 (GRCm39)	F230I	probably damaging	Het
Nrxn3	T	C	12: 89,478,832 (GRCm39)	V602A	probably benign	Het
Or4a74	T	A	2: 89,439,571 (GRCm39)	I292F	possibly damaging	Het
Plekhg6	A	G	6: 125,351,623 (GRCm39)	F209L	probably damaging	Het
Pmp22	C	A	11: 63,049,174 (GRCm39)	A139D	probably damaging	Het
Polr2e	T	C	10: 79,874,404 (GRCm39)	D34G	possibly damaging	Het
Ppard	T	A	17: 28,516,091 (GRCm39)	L105H	probably damaging	Het
Ptpn14	T	A	1: 189,582,942 (GRCm39)	D596E	probably benign	Het
Ptprz1	C	T	6: 23,002,518 (GRCm39)	A1536V	not run	Het
Qng1	T	A	13: 58,529,649 (GRCm39)	H321L	probably damaging	Het
Rabgap1	TGGGG	TGGG	2: 37,392,908 (GRCm39)		probably null	Het
Retreg1	T	A	15: 25,971,727 (GRCm39)	D222E	probably benign	Het
Rmnd1	T	C	10: 4,363,404 (GRCm39)	K282R	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Sall3	C	T	18: 81,015,267 (GRCm39)	R887H	possibly damaging	Het
Samd3	A	G	10: 26,139,711 (GRCm39)	D281G	probably benign	Het
Scube1	T	A	15: 83,497,653 (GRCm39)	D766V	probably damaging	Het
Sec24b	TGC	TGCAGC	3: 129,834,460 (GRCm39)		probably benign	Het
Slc2a2	A	G	3: 28,752,166 (GRCm39)	M1V	probably null	Het
Slc39a2	A	T	14: 52,132,488 (GRCm39)	T144S	probably benign	Het
Slc5a9	T	C	4: 111,734,937 (GRCm39)	H619R	probably benign	Het
Slco4a1	T	C	2: 180,113,048 (GRCm39)	F427L	probably benign	Het
Snapc3	C	A	4: 83,336,073 (GRCm39)	Y28*	probably null	Het
St3gal6	C	T	16: 58,293,800 (GRCm39)	R243H	probably benign	Het
Stat2	T	A	10: 128,113,066 (GRCm39)	N119K	possibly damaging	Het
Syne2	G	C	12: 76,013,145 (GRCm39)	V2779L	probably benign	Het
Tacc1	T	A	8: 25,691,301 (GRCm39)	M1L	probably damaging	Het
Tbc1d32	A	T	10: 56,027,929 (GRCm39)	F724L	possibly damaging	Het
Ttc23l	A	G	15: 10,533,766 (GRCm39)	I259T	possibly damaging	Het
Ucn2	T	C	9: 108,815,292 (GRCm39)	I18T	probably benign	Het
Wdr35	G	C	12: 9,074,886 (GRCm39)	A1000P	probably benign	Het
Wnk1	C	A	6: 119,906,789 (GRCm39)	C244F	possibly damaging	Het
Zeb2	T	G	2: 44,884,625 (GRCm39)	D1022A	probably damaging	Het
Zfp26	A	T	9: 20,349,129 (GRCm39)	H478Q	probably damaging	Het
Zfp410	A	G	12: 84,378,630 (GRCm39)	K265R	probably benign	Het
Zfp575	T	C	7: 24,286,093 (GRCm39)	D21G	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
R3809:Hdac1	UTSW	4	129,418,113 (GRCm39)	missense	probably damaging	1.00
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
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'- ACCTCCAGTTTAAGCTCCAAAGG -3'
(R):5'- CCAGCTGTGTGCAAACATTTG -3'

Sequencing Primer
(F):5'- TCCAAAGGAGCTGGCTGG -3'
(R):5'- GTGCAAACATTTGTTTTGAGACCCC -3'

Posted On

2019-10-24