Mutagenetix > Incidental Mutations

Incidental Mutation 'R6615:Hdac5'

526313

Institutional Source

Beutler Lab

Gene Symbol

Hdac5

Ensembl Gene

ENSMUSG00000008855

Gene Name

histone deacetylase 5

Synonyms

mHDA1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6615 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102194432-102230166 bp(-) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

C to A at 102197056 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008999] [ENSMUST00000070334] [ENSMUST00000078975] [ENSMUST00000107150] [ENSMUST00000107151] [ENSMUST00000107152] [ENSMUST00000124077] [ENSMUST00000140962]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000008999

SMART Domains

Protein: ENSMUSP00000008999
Gene: ENSMUSG00000008855

Domain	Start	End	E-Value	Type
low complexity region	58	75	N/A	INTRINSIC
Pfam:HDAC4_Gln	86	174	1e-30	PFAM
low complexity region	233	247	N/A	INTRINSIC
low complexity region	322	337	N/A	INTRINSIC
low complexity region	502	541	N/A	INTRINSIC
low complexity region	560	577	N/A	INTRINSIC
coiled coil region	583	617	N/A	INTRINSIC
Pfam:Hist_deacetyl	704	1034	1.4e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000070334

SMART Domains

Protein: ENSMUSP00000064276
Gene: ENSMUSG00000034793

Domain	Start	End	E-Value	Type
acidPPc	53	187	2.53e-15	SMART
transmembrane domain	196	218	N/A	INTRINSIC
transmembrane domain	284	302	N/A	INTRINSIC
transmembrane domain	317	336	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000078975

SMART Domains

Protein: ENSMUSP00000077995
Gene: ENSMUSG00000034793

Domain	Start	End	E-Value	Type
acidPPc	53	187	2.53e-15	SMART
transmembrane domain	196	218	N/A	INTRINSIC
transmembrane domain	284	302	N/A	INTRINSIC
transmembrane domain	317	336	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000107150

SMART Domains

Protein: ENSMUSP00000102768
Gene: ENSMUSG00000008855

Domain	Start	End	E-Value	Type
low complexity region	39	56	N/A	INTRINSIC
Pfam:HDAC4_Gln	66	155	5.1e-37	PFAM
low complexity region	214	228	N/A	INTRINSIC
low complexity region	303	318	N/A	INTRINSIC
low complexity region	483	522	N/A	INTRINSIC
low complexity region	541	558	N/A	INTRINSIC
coiled coil region	564	598	N/A	INTRINSIC
Pfam:Hist_deacetyl	685	1015	9.4e-91	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000107151

SMART Domains

Protein: ENSMUSP00000102769
Gene: ENSMUSG00000008855

Domain	Start	End	E-Value	Type
low complexity region	40	57	N/A	INTRINSIC
Pfam:HDAC4_Gln	67	156	1.1e-37	PFAM
low complexity region	215	229	N/A	INTRINSIC
low complexity region	304	319	N/A	INTRINSIC
low complexity region	484	523	N/A	INTRINSIC
low complexity region	542	559	N/A	INTRINSIC
coiled coil region	565	599	N/A	INTRINSIC
Pfam:Hist_deacetyl	618	931	1.2e-82	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000107152

SMART Domains

Protein: ENSMUSP00000102770
Gene: ENSMUSG00000008855

Domain	Start	End	E-Value	Type
low complexity region	40	57	N/A	INTRINSIC
Pfam:HDAC4_Gln	67	156	3.7e-37	PFAM
low complexity region	215	229	N/A	INTRINSIC
low complexity region	304	319	N/A	INTRINSIC
low complexity region	484	523	N/A	INTRINSIC
low complexity region	542	559	N/A	INTRINSIC
coiled coil region	565	599	N/A	INTRINSIC
Pfam:Hist_deacetyl	686	1016	6.4e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124077

SMART Domains

Protein: ENSMUSP00000116672
Gene: ENSMUSG00000008855

Domain	Start	End	E-Value	Type
low complexity region	37	50	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124594

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126453

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136304

Predicted Effect

probably benign
Transcript: ENSMUST00000140962

SMART Domains

Protein: ENSMUSP00000115435
Gene: ENSMUSG00000008855

Domain	Start	End	E-Value	Type
PDB:2VQQ\|B	1	71	3e-21	PDB
transmembrane domain	118	135	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153178

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140481

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145490

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155065

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150965

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145540

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137787

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.4%

Validation Efficiency

100% (51/51)

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 class II histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. It coimmunoprecipitates only with HDAC3 family member and might form multicomplex proteins. It also interacts with myocyte enhancer factor-2 (MEF2) proteins, resulting in repression of MEF2-dependent genes. This gene is thought to be associated with colon cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and display cardiac hypertrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933425L06Rik	T	A	13: 105,112,485	N402K	probably damaging	Het
Avl9	T	C	6: 56,753,885	V598A	probably benign	Het
Bcar3	T	A	3: 122,426,633	S60T	probably benign	Het
Bean1	CT	C	8: 104,182,032		probably null	Homo
Calm3	A	G	7: 16,917,583		probably null	Het
Ccdc113	A	C	8: 95,545,992	E242D	probably benign	Het
Celsr1	C	T	15: 85,902,114		probably null	Het
Clhc1	T	A	11: 29,578,149	M559K	possibly damaging	Het
Dhx36	T	A	3: 62,488,917	I440L	probably benign	Het
Dnah7c	A	T	1: 46,515,439	T445S	probably benign	Het
Dnah7c	C	A	1: 46,649,340	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,649,351	S1894G	probably benign	Het
Dsc2	T	A	18: 20,032,519	H843L	possibly damaging	Het
F11	T	C	8: 45,248,774	Y333C	probably benign	Het
Fbxo41	T	C	6: 85,478,523	T560A	possibly damaging	Het
Fbxo7	A	T	10: 86,044,534	H282L	possibly damaging	Het
Gmnc	T	G	16: 26,960,528	D243A	probably benign	Het
Krt87	A	G	15: 101,436,562	V188A	probably benign	Het
Lpxn	G	A	19: 12,824,799	V163M	probably benign	Het
Lrrk1	A	T	7: 66,281,648	L55Q	probably damaging	Het
Ltbp2	C	T	12: 84,813,317	C621Y	probably damaging	Het
March8	A	G	6: 116,405,663	E147G	probably damaging	Het
Muc16	T	G	9: 18,647,188	H2603P	unknown	Het
Nipa1	T	A	7: 55,979,823	N181Y	probably damaging	Het
Olfr1281	A	G	2: 111,329,112	D231G	probably benign	Het
Olfr297	A	G	7: 86,526,912	T52A	probably benign	Het
Olfr562-ps1	T	C	7: 102,781,787	F104L	probably damaging	Het
Olfr855	A	G	9: 19,584,989	I151V	probably benign	Het
Olfr92	G	A	17: 37,111,602	P127S	probably damaging	Het
Pcf11	T	A	7: 92,657,882	Q1026L	probably damaging	Het
Ptch1	T	G	13: 63,539,830	K378T	possibly damaging	Het
Ptprm	C	T	17: 67,353,956		probably null	Het
Pxmp2	C	A	5: 110,277,707	W154L	possibly damaging	Het
Rdh7	T	G	10: 127,884,622	S294R	probably damaging	Het
Rexo1	C	T	10: 80,544,014	R994Q	possibly damaging	Het
Sacs	A	G	14: 61,208,934	T2810A	probably benign	Het
Serpina3c	A	T	12: 104,151,721	H119Q	possibly damaging	Het
Slc12a2	T	G	18: 57,898,128	I335R	probably damaging	Het
Slc25a13	C	T	6: 6,073,454	R468Q	probably damaging	Het
Slc5a6	C	T	5: 31,036,830	V628I	probably benign	Het
Srsf2	T	C	11: 116,853,079		probably null	Het
Sugp2	A	G	8: 70,242,770	Q131R	possibly damaging	Het
Syne1	T	C	10: 5,301,340	R2525G	probably damaging	Het
Tarsl2	T	C	7: 65,678,142	F533S	probably damaging	Het
Tmem8b	G	T	4: 43,682,249	G82W	probably damaging	Het
Unc13c	A	G	9: 73,930,608	I987T	possibly damaging	Het
Usp44	T	C	10: 93,846,489	V267A	possibly damaging	Het
Wac	C	A	18: 7,868,884		probably null	Het
Xkr5	T	C	8: 18,933,553	I658V	probably benign	Het
Zbtb38	A	T	9: 96,686,654	Y792*	probably null	Het

Other mutations in Hdac5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Hdac5	APN	11	102197342	missense	probably damaging	1.00
IGL01614:Hdac5	APN	11	102200028	missense	probably benign	0.38
IGL01799:Hdac5	APN	11	102200085	missense	possibly damaging	0.71
IGL02839:Hdac5	APN	11	102204908	missense	probably damaging	1.00
E0354:Hdac5	UTSW	11	102202146	unclassified	probably benign
R0544:Hdac5	UTSW	11	102196096	missense	probably damaging	1.00
R0612:Hdac5	UTSW	11	102196252	missense	possibly damaging	0.92
R0632:Hdac5	UTSW	11	102205812	missense	probably damaging	1.00
R0659:Hdac5	UTSW	11	102196024	missense	probably damaging	1.00
R0930:Hdac5	UTSW	11	102204646	missense	probably benign	0.02
R1195:Hdac5	UTSW	11	102205506	missense	probably damaging	0.99
R1195:Hdac5	UTSW	11	102205506	missense	probably damaging	0.99
R1195:Hdac5	UTSW	11	102205506	missense	probably damaging	0.99
R1475:Hdac5	UTSW	11	102202186	missense	possibly damaging	0.94
R1491:Hdac5	UTSW	11	102201253	missense	probably benign
R1596:Hdac5	UTSW	11	102204656	splice site	probably null
R1673:Hdac5	UTSW	11	102198805	missense	probably damaging	1.00
R1783:Hdac5	UTSW	11	102200516	missense	probably benign
R1932:Hdac5	UTSW	11	102195872	splice site	probably benign
R2197:Hdac5	UTSW	11	102204514	missense	probably damaging	1.00
R2348:Hdac5	UTSW	11	102200014	missense	probably benign	0.44
R2518:Hdac5	UTSW	11	102197136	missense	probably damaging	1.00
R3081:Hdac5	UTSW	11	102205610	missense	probably damaging	1.00
R3622:Hdac5	UTSW	11	102195818	missense	probably benign	0.34
R4543:Hdac5	UTSW	11	102213944	intron	probably benign
R4559:Hdac5	UTSW	11	102199102	unclassified	probably benign
R4661:Hdac5	UTSW	11	102205849	missense	probably damaging	1.00
R4682:Hdac5	UTSW	11	102206630	missense	probably null	0.99
R4708:Hdac5	UTSW	11	102202193	missense	probably damaging	0.97
R4933:Hdac5	UTSW	11	102200563	unclassified	probably benign
R4957:Hdac5	UTSW	11	102205256	unclassified	probably benign
R4991:Hdac5	UTSW	11	102205624	missense	probably damaging	1.00
R5090:Hdac5	UTSW	11	102197713	missense	probably damaging	1.00
R5103:Hdac5	UTSW	11	102196283	missense	probably damaging	0.98
R5330:Hdac5	UTSW	11	102197354	missense	probably damaging	1.00
R5331:Hdac5	UTSW	11	102197354	missense	probably damaging	1.00
R5386:Hdac5	UTSW	11	102202141	missense	possibly damaging	0.71
R5449:Hdac5	UTSW	11	102196097	nonsense	probably null
R5682:Hdac5	UTSW	11	102213923	intron	probably benign
R6705:Hdac5	UTSW	11	102201236	missense	probably damaging	0.99
R6875:Hdac5	UTSW	11	102202276	missense	probably damaging	1.00
R6952:Hdac5	UTSW	11	102204960	missense	probably benign
R7179:Hdac5	UTSW	11	102204559	missense	possibly damaging	0.74
R7368:Hdac5	UTSW	11	102197381	missense	probably null	1.00
R8140:Hdac5	UTSW	11	102197355	missense	probably damaging	1.00
R8151:Hdac5	UTSW	11	102206468	missense	probably benign	0.00
R8684:Hdac5	UTSW	11	102205321	missense	probably benign	0.01
R8719:Hdac5	UTSW	11	102207137	missense	probably benign	0.18
R8751:Hdac5	UTSW	11	102218454	missense	probably benign	0.19
R8893:Hdac5	UTSW	11	102206686	missense	possibly damaging	0.82
R9337:Hdac5	UTSW	11	102205352	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATCTCGGGAAGATCAAGGC -3'
(R):5'- ATGGCCTCGATGGAGAACAG -3'

Sequencing Primer
(F):5'- TCAAGGCCAGAGAGCTTCAGTG -3'
(R):5'- CCTCGATGGAGAACAGAGCATG -3'

Posted On

2018-06-22