Mutagenetix > Incidental Mutation

Incidental Mutation 'R7652:Hdac3'

590952

Institutional Source

Beutler Lab

Gene Symbol

Hdac3

Ensembl Gene

ENSMUSG00000024454

Gene Name

histone deacetylase 3

Synonyms

MMRRC Submission

045729-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7652 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38070024-38088073 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 38087972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135615 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043437] [ENSMUST00000043498] [ENSMUST00000070709] [ENSMUST00000091932] [ENSMUST00000163128] [ENSMUST00000163591] [ENSMUST00000168056] [ENSMUST00000169360] [ENSMUST00000169498] [ENSMUST00000176104] [ENSMUST00000176902] [ENSMUST00000177058]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000043437

SMART Domains

Protein: ENSMUSP00000047878
Gene: ENSMUSG00000038524

Domain	Start	End	E-Value	Type
Pfam:FCH	21	100	1.6e-19	PFAM
coiled coil region	188	209	N/A	INTRINSIC
low complexity region	346	357	N/A	INTRINSIC
SH3	469	526	1.34e-8	SMART
SH3	547	606	1.94e-14	SMART
low complexity region	622	634	N/A	INTRINSIC
low complexity region	657	686	N/A	INTRINSIC

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

probably benign
Transcript: ENSMUST00000070709

SMART Domains

Protein: ENSMUSP00000070280
Gene: ENSMUSG00000044024

Domain	Start	End	E-Value	Type
Pfam:RELT	16	64	1.2e-22	PFAM
low complexity region	194	212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000091932

SMART Domains

Protein: ENSMUSP00000089552
Gene: ENSMUSG00000044024

Domain	Start	End	E-Value	Type
Pfam:RELT	16	64	8.3e-23	PFAM
low complexity region	194	212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163128

SMART Domains

Protein: ENSMUSP00000127234
Gene: ENSMUSG00000044024

Domain	Start	End	E-Value	Type
Pfam:RELT	16	64	5.2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163591

SMART Domains

Protein: ENSMUSP00000129299
Gene: ENSMUSG00000044024

Domain	Start	End	E-Value	Type
low complexity region	103	121	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168056

SMART Domains

Protein: ENSMUSP00000130051
Gene: ENSMUSG00000044024

Domain	Start	End	E-Value	Type
Pfam:RELT	16	64	1.9e-23	PFAM
low complexity region	104	116	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169360

SMART Domains

Protein: ENSMUSP00000129880
Gene: ENSMUSG00000044024

Domain	Start	End	E-Value	Type
Pfam:RELT	16	64	4.6e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169498

SMART Domains

Protein: ENSMUSP00000128949
Gene: ENSMUSG00000044024

Domain	Start	End	E-Value	Type
low complexity region	103	121	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176104

SMART Domains

Protein: ENSMUSP00000135556
Gene: ENSMUSG00000044024

Domain	Start	End	E-Value	Type
Pfam:RELT	16	60	3.3e-22	PFAM
low complexity region	194	212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176902

SMART Domains

Protein: ENSMUSP00000135176
Gene: ENSMUSG00000044024

Domain	Start	End	E-Value	Type
low complexity region	103	121	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177058

SMART Domains

Protein: ENSMUSP00000135615
Gene: ENSMUSG00000044024

Domain	Start	End	E-Value	Type
Pfam:RELT	16	64	1.2e-22	PFAM
low complexity region	194	212	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (66/66)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	G	4: 156,253,675 (GRCm39)		probably null	Het
Alb	G	C	5: 90,615,214 (GRCm39)	R242P	probably damaging	Het
Anxa2r2	A	T	13: 120,488,529 (GRCm39)	S7T	possibly damaging	Het
Aph1b	T	C	9: 66,691,823 (GRCm39)	T195A	probably benign	Het
Apoe	G	T	7: 19,430,535 (GRCm39)	R236S	possibly damaging	Het
Arap3	G	T	18: 38,111,505 (GRCm39)	T1137K	probably damaging	Het
Arhgap45	C	T	10: 79,864,672 (GRCm39)	A908V	probably benign	Het
Atp13a1	T	C	8: 70,258,209 (GRCm39)	C965R	probably damaging	Het
C7	A	G	15: 5,041,587 (GRCm39)	Y440H	probably damaging	Het
Cacna2d2	T	C	9: 107,401,397 (GRCm39)		probably null	Het
Ddah2	C	A	17: 35,280,026 (GRCm39)	R173S	possibly damaging	Het
Dnajc11	T	C	4: 152,058,682 (GRCm39)	Y337H	probably damaging	Het
Dnajc25	A	G	4: 59,020,483 (GRCm39)	K302R	probably benign	Het
Dnajc6	A	T	4: 101,463,874 (GRCm39)	Q209L	probably damaging	Het
Drosha	G	A	15: 12,859,522 (GRCm39)	V577I	probably benign	Het
Ebf2	G	T	14: 67,628,016 (GRCm39)		probably null	Het
Epx	A	G	11: 87,766,160 (GRCm39)		probably null	Het
Eqtn	T	C	4: 94,816,574 (GRCm39)	Y73C	probably damaging	Het
Fam107b	A	G	2: 3,773,884 (GRCm39)	N21S	probably benign	Het
Fasn	G	A	11: 120,707,154 (GRCm39)	S857F	probably damaging	Het
Fat1	A	G	8: 45,406,336 (GRCm39)	N1029S	probably damaging	Het
Gas8	A	G	8: 124,253,275 (GRCm39)	I208V	probably benign	Het
Gm3269	T	C	14: 16,026,209 (GRCm39)	I88T	probably benign	Het
Gm8005	C	A	14: 42,258,919 (GRCm39)	L136F		Het
Grid2ip	C	A	5: 143,368,393 (GRCm39)	P743Q	probably damaging	Het
H2-T15	A	T	17: 36,367,675 (GRCm39)	V221D	probably damaging	Het
Hbs1l	C	T	10: 21,240,659 (GRCm39)	T626I	probably benign	Het
Hnrnpab	T	C	11: 51,496,400 (GRCm39)	Y94C	probably damaging	Het
Homer2	T	C	7: 81,299,414 (GRCm39)	D17G	probably damaging	Het
Ikbke	C	T	1: 131,199,569 (GRCm39)	R308Q	probably damaging	Het
Ints10	A	G	8: 69,277,771 (GRCm39)	T682A	possibly damaging	Het
Klhl3	G	A	13: 58,261,146 (GRCm39)		probably benign	Het
Klk1b9	A	T	7: 43,445,514 (GRCm39)	T235S	probably benign	Het
Kmt2c	T	C	5: 25,520,717 (GRCm39)	T1798A	probably benign	Het
Kri1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTCCTCCTC	9: 21,192,352 (GRCm39)		probably benign	Het
Krtap4-6	T	C	11: 99,556,440 (GRCm39)	I96V	unknown	Het
Lef1	A	C	3: 130,994,003 (GRCm39)	R354S	probably damaging	Het
Lrp6	A	T	6: 134,488,208 (GRCm39)	L296*	probably null	Het
Maml2	T	C	9: 13,532,945 (GRCm39)	Y720H		Het
Mmrn1	A	G	6: 60,954,490 (GRCm39)	N924D	probably benign	Het
Myh7b	A	G	2: 155,474,156 (GRCm39)	K1624E	probably damaging	Het
Nos3	T	A	5: 24,588,610 (GRCm39)	V1112D	probably damaging	Het
Or2y14	T	C	11: 49,404,512 (GRCm39)	F16L	probably damaging	Het
Or4c111	C	T	2: 88,843,893 (GRCm39)	V172I	probably benign	Het
Or5an1b	C	A	19: 12,299,651 (GRCm39)	C180F	probably damaging	Het
Or5w13	A	G	2: 87,523,704 (GRCm39)	I174T	probably damaging	Het
Or6c70	A	T	10: 129,710,346 (GRCm39)	N93K	probably damaging	Het
Phospho1	T	C	11: 95,721,645 (GRCm39)	L105S	probably damaging	Het
Prss35	T	A	9: 86,638,023 (GRCm39)	N264K	probably benign	Het
Ptpn13	A	G	5: 103,677,578 (GRCm39)	D732G	probably benign	Het
Rab18	A	T	18: 6,783,123 (GRCm39)	T64S	possibly damaging	Het
Rft1	A	G	14: 30,399,773 (GRCm39)	Q319R	probably benign	Het
Rgs7	T	A	1: 174,921,396 (GRCm39)	M220L	probably benign	Het
Rnf13	A	G	3: 57,671,772 (GRCm39)	N28S	probably benign	Het
Setd3	A	T	12: 108,078,548 (GRCm39)	I311N	probably damaging	Het
Setd5	G	A	6: 113,098,725 (GRCm39)	R786H	probably damaging	Het
Slc26a6	T	C	9: 108,733,143 (GRCm39)		probably null	Het
Slc26a9	A	T	1: 131,691,634 (GRCm39)	T626S	probably benign	Het
Stambp	A	T	6: 83,540,910 (GRCm39)		probably null	Het
Stom	A	T	2: 35,206,041 (GRCm39)	N229K	probably benign	Het
Tlr1	A	T	5: 65,084,130 (GRCm39)	L149*	probably null	Het
Trpc3	C	A	3: 36,692,677 (GRCm39)	V772F	probably benign	Het
Ube3a	A	G	7: 58,893,102 (GRCm39)		probably benign	Het
Ugt2b35	T	A	5: 87,149,369 (GRCm39)	F207I	probably damaging	Het
Usp53	A	T	3: 122,746,884 (GRCm39)	D360E	possibly damaging	Het
Vmn2r96	T	G	17: 18,793,832 (GRCm39)	S59A	probably benign	Het
Wdr70	A	G	15: 8,108,700 (GRCm39)	C149R	probably benign	Het
Wnt3	A	G	11: 103,703,290 (GRCm39)	T258A	possibly damaging	Het
Zfp729b	T	C	13: 67,739,371 (GRCm39)	T965A	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
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
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'- CCAGGCGATGAGGTTTCATTG -3'
(R):5'- GTTCTGAGTCTCAAGCCTCG -3'

Sequencing Primer
(F):5'- CATTGGGTGTCCAGCTCCTGAG -3'
(R):5'- TGAGTCTCAAGCCTCGGAATCTG -3'

Posted On

2019-10-24