Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01511:Hdac3'

89218

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 #

IGL01511

Quality Score

Status

Chromosome

Chromosomal Location

37935844-37954988 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37952595 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 53 (A53T)

Ref Sequence

ENSEMBL: ENSMUSP00000037981 (fasta)

Gene Model

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

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
AA Change: A53T

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000037981
Gene: ENSMUSG00000024454
AA Change: A53T

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

noncoding transcript
Transcript: ENSMUST00000153945

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

noncoding transcript
Transcript: ENSMUST00000164499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166531

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: 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: 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: 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

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

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,244,310	D216E	probably benign	Het
Abcc4	C	A	14: 118,599,341	L669F	probably benign	Het
Adam29	C	T	8: 55,871,421	G666D	probably damaging	Het
Adat2	T	G	10: 13,560,238	M109R	probably null	Het
Atf3	T	A	1: 191,171,496	T178S	probably benign	Het
Birc6	T	A	17: 74,627,003	Y2522*	probably null	Het
Ccr8	G	A	9: 120,094,625	G269R	probably damaging	Het
Ces1a	G	T	8: 93,045,098	P24T	probably damaging	Het
Chrna4	C	T	2: 181,028,668	V432I	probably benign	Het
Commd8	A	G	5: 72,165,379	V65A	probably benign	Het
Cyp2j13	A	G	4: 96,077,315	F52L	possibly damaging	Het
Desi1	T	A	15: 82,002,588	K45*	probably null	Het
Dmbt1	T	A	7: 131,116,728	M1552K	possibly damaging	Het
Dna2	G	A	10: 62,955,314	M197I	possibly damaging	Het
Dnah7a	A	C	1: 53,419,595	L3795V	probably damaging	Het
Fam221b	T	C	4: 43,660,135		probably null	Het
Fbxw18	A	T	9: 109,688,821	S366T	possibly damaging	Het
Fzd8	A	G	18: 9,213,293	Y125C	unknown	Het
Gcsam	T	C	16: 45,615,952	Y11H	probably damaging	Het
Gucy2f	G	T	X: 142,161,734	D410E	probably damaging	Het
Lamp2	A	G	X: 38,431,875	L244P	probably damaging	Het
Lrrk1	A	T	7: 66,265,450	F1630Y	possibly damaging	Het
M1ap	C	A	6: 83,028,412	D434E	probably benign	Het
Mcmbp	A	G	7: 128,707,164	Y378H	probably damaging	Het
Mvb12a	T	A	8: 71,545,302	V120E	probably damaging	Het
Nbeal2	A	C	9: 110,629,234	W2063G	probably damaging	Het
Neto1	A	C	18: 86,395,908	H9P	possibly damaging	Het
Nmu	C	T	5: 76,340,821	V126M	probably damaging	Het
Odf2	T	C	2: 29,914,309		probably benign	Het
Olfr1387	A	G	11: 49,460,216	E179G	probably damaging	Het
Pdzrn3	T	C	6: 101,153,256	H533R	possibly damaging	Het
Pikfyve	G	T	1: 65,258,869	E1586*	probably null	Het
Plcb3	C	A	19: 6,955,843	R970L	probably damaging	Het
Plxna3	A	G	X: 74,335,308	E686G	probably damaging	Het
Polrmt	T	A	10: 79,740,151	Y586F	probably benign	Het
Ppt1	T	A	4: 122,854,425	F225I	probably damaging	Het
Prcc	T	G	3: 87,872,241	D162A	probably damaging	Het
Ripor1	T	C	8: 105,619,930		probably benign	Het
Rnaseh1	A	G	12: 28,659,009	H263R	probably damaging	Het
Rnf19b	T	A	4: 129,080,418	S490R	probably damaging	Het
Slc15a2	T	A	16: 36,784,726	T23S	probably damaging	Het
Slc17a2	T	C	13: 23,819,138		probably null	Het
Slc35f4	T	C	14: 49,298,877	M434V	probably benign	Het
Slc52a3	C	T	2: 152,004,644	T175I	probably benign	Het
Slc5a2	C	T	7: 128,270,622	T409M	probably benign	Het
Tbc1d24	A	G	17: 24,181,918	S108P	probably benign	Het
Thnsl2	T	G	6: 71,139,793	Q125P	probably benign	Het
Ttc13	T	C	8: 124,676,371	D672G	probably damaging	Het
Ttn	G	T	2: 76,753,745	H14013N	possibly damaging	Het
Unc5a	T	C	13: 55,004,816	F792L	probably damaging	Het
Vac14	T	C	8: 110,712,798	V669A	possibly damaging	Het
Vmn1r13	A	T	6: 57,210,329	M158L	probably benign	Het
Vmn1r220	A	T	13: 23,184,214	V104D	probably damaging	Het
Wdr78	T	C	4: 103,048,361	D741G	possibly damaging	Het
Zfp738	A	T	13: 67,683,401		probably null	Het
Zscan5b	A	C	7: 6,231,422	H149P	probably benign	Het

Other mutations in Hdac3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Hdac3	APN	18	37954885	missense	possibly damaging	0.95
IGL00570:Hdac3	APN	18	37944121	splice site	probably benign
IGL01559:Hdac3	APN	18	37943672	splice site	probably benign
IGL01688:Hdac3	APN	18	37954879	missense	possibly damaging	0.53
IGL02529:Hdac3	APN	18	37944132	missense	probably benign	0.20
IGL02559:Hdac3	APN	18	37954891	missense	probably damaging	1.00
IGL02702:Hdac3	APN	18	37941094	missense	probably benign	0.00
PIT4520001:Hdac3	UTSW	18	37941764	missense	probably damaging	1.00
R0173:Hdac3	UTSW	18	37941753	missense	probably damaging	0.97
R0325:Hdac3	UTSW	18	37940952	critical splice donor site	probably null
R0445:Hdac3	UTSW	18	37943724	missense	probably damaging	0.99
R1341:Hdac3	UTSW	18	37954713	missense	probably damaging	1.00
R2068:Hdac3	UTSW	18	37943516	missense	probably damaging	1.00
R2761:Hdac3	UTSW	18	37945726	missense	probably benign	0.19
R3805:Hdac3	UTSW	18	37945692	critical splice donor site	probably null
R4467:Hdac3	UTSW	18	37952513	missense	probably benign	0.03
R5928:Hdac3	UTSW	18	37941341	intron	probably benign
R5929:Hdac3	UTSW	18	37941341	intron	probably benign
R6341:Hdac3	UTSW	18	37944164	missense	probably damaging	0.99
R6679:Hdac3	UTSW	18	37944933	missense	possibly damaging	0.59
R6843:Hdac3	UTSW	18	37941954	missense	probably benign
R7262:Hdac3	UTSW	18	37945563	missense	probably damaging	0.99
R7559:Hdac3	UTSW	18	37945516	missense	possibly damaging	0.94
R7585:Hdac3	UTSW	18	37945355	missense	probably damaging	1.00
R7652:Hdac3	UTSW	18	37954919	unclassified	probably benign
R8434:Hdac3	UTSW	18	37941422	missense	possibly damaging	0.68
R9400:Hdac3	UTSW	18	37937624	missense	possibly damaging	0.71
Z1177:Hdac3	UTSW	18	37945751	missense	probably benign

Posted On

2013-12-03