Mutagenetix > Incidental Mutation

Incidental Mutation 'R4957:Hdac5'

381660

Institutional Source

Beutler Lab

Gene Symbol

Hdac5

Ensembl Gene

ENSMUSG00000008855

Gene Name

histone deacetylase 5

Synonyms

mHDA1

MMRRC Submission

042554-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4957 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102194432-102230166 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 102205256 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116646 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008999] [ENSMUST00000107150] [ENSMUST00000107151] [ENSMUST00000107152] [ENSMUST00000124077] [ENSMUST00000131254] [ENSMUST00000156337]

AlphaFold

no structure available at present

Predicted Effect

probably benign
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: 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 benign
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 benign
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: ENSMUST00000126453

Predicted Effect

probably benign
Transcript: ENSMUST00000131254

SMART Domains

Protein: ENSMUSP00000118108
Gene: ENSMUSG00000008855

Domain	Start	End	E-Value	Type
low complexity region	30	47	N/A	INTRINSIC
Pfam:HDAC4_Gln	57	146	1.5e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150683

Predicted Effect

probably benign
Transcript: ENSMUST00000156337

SMART Domains

Protein: ENSMUSP00000116646
Gene: ENSMUSG00000008855

Domain	Start	End	E-Value	Type
low complexity region	1	15	N/A	INTRINSIC
Pfam:HDAC4_Gln	25	114	2e-38	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

99% (80/81)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	C	1: 120,169,110		probably benign	Het
3110009E18Rik	G	T	1: 120,169,119		probably benign	Het
3110009E18Rik	C	T	1: 120,169,120		probably benign	Het
6820408C15Rik	T	A	2: 152,444,093	V342D	probably damaging	Het
Arhgap33	C	T	7: 30,532,361	G101R	probably damaging	Het
Atf7ip	C	T	6: 136,606,810	R1280C	probably damaging	Het
Cacnb4	T	C	2: 52,558,291	H8R	probably damaging	Het
Ccdc150	T	A	1: 54,364,868		probably benign	Het
Cd163l1	T	C	7: 140,228,522	V782A	probably damaging	Het
Cd74	A	G	18: 60,809,037	N113D	probably benign	Het
Cdc25b	T	C	2: 131,193,605	V341A	possibly damaging	Het
Clptm1l	T	A	13: 73,611,196	I245N	possibly damaging	Het
Clptm1l	T	C	13: 73,612,428	I310T	probably damaging	Het
Creb5	A	T	6: 53,693,922		probably null	Het
Crebbp	T	C	16: 4,117,367	Q460R	probably benign	Het
Dnah17	A	T	11: 118,074,298	I2306N	probably benign	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Elovl1	A	T	4: 118,431,923	H215L	probably damaging	Het
Enkd1	A	G	8: 105,704,489	I202T	probably benign	Het
Epha7	C	T	4: 28,871,892	A407V	probably damaging	Het
Ercc3	G	T	18: 32,243,117	G130W	probably damaging	Het
Fbxl8	A	G	8: 105,268,195	E113G	probably damaging	Het
Frmpd1	T	G	4: 45,273,099	N339K	probably damaging	Het
Frrs1	G	A	3: 116,885,248	D240N	probably benign	Het
Gemin2	A	G	12: 59,017,168	S105G	probably benign	Het
Glra1	T	A	11: 55,527,398	I257F	probably damaging	Het
Gmcl1	G	A	6: 86,710,521	P354S	probably damaging	Het
Gpr15	G	T	16: 58,718,174	A184E	probably damaging	Het
Grm7	G	A	6: 111,358,863	G745E	probably damaging	Het
H2-T10	T	A	17: 36,117,416		probably benign	Het
Ift22	G	A	5: 136,908,216		probably benign	Het
Ighg3	T	C	12: 113,361,130	E34G	unknown	Het
Itga11	A	T	9: 62,767,648	T821S	probably benign	Het
Lmod2	T	C	6: 24,603,872	V282A	possibly damaging	Het
Maml2	A	G	9: 13,620,276	K262R	probably damaging	Het
Mme	T	A	3: 63,343,489		probably benign	Het
Mnat1	A	G	12: 73,123,878	Y14C	probably damaging	Het
Mtdh	A	T	15: 34,083,135	T34S	possibly damaging	Het
Ncaph	T	C	2: 127,121,257	D352G	possibly damaging	Het
Olfr1014	T	C	2: 85,777,115	F177S	probably damaging	Het
Olfr1036	T	A	2: 86,075,510	Y257N	probably damaging	Het
Olfr1293-ps	C	A	2: 111,528,224	N321K	probably benign	Het
Olfr224	A	G	11: 58,566,518	Y276H	probably damaging	Het
Pcdhb13	T	A	18: 37,444,784	D738E	possibly damaging	Het
Pla2g4f	C	T	2: 120,300,499	R825Q	probably benign	Het
Pnliprp2	C	T	19: 58,775,145	L409F	possibly damaging	Het
Prlr	G	T	15: 10,319,195	C70F	probably damaging	Het
Ptpn14	C	T	1: 189,851,272	T772I	probably benign	Het
Ryr2	T	C	13: 11,785,080	Q927R	probably damaging	Het
Scarf1	A	G	11: 75,525,634	E634G	probably benign	Het
Slc39a14	A	T	14: 70,315,811	S158R	probably damaging	Het
Slc9c1	A	T	16: 45,544,831	T176S	probably benign	Het
Srsf10	T	C	4: 135,856,230	S2P	probably damaging	Het
Tcam1	T	A	11: 106,282,879	C50S	probably damaging	Het
Tcf7l2	A	G	19: 55,931,432		probably null	Het
Tdrd3	T	A	14: 87,505,787	H390Q	probably benign	Het
Tlk2	T	C	11: 105,253,359		probably null	Het
Tnc	G	C	4: 63,976,556	P1531R	probably damaging	Het
Tnfrsf1b	C	A	4: 145,246,757	Q15H	probably damaging	Het
Tnfrsf1b	T	G	4: 145,246,758	Q15P	possibly damaging	Het
Tssk4	A	T	14: 55,651,809	E264V	probably damaging	Het
Ttc37	T	G	13: 76,185,113		probably null	Het
Ugt3a2	G	A	15: 9,365,188	V296I	probably benign	Het
Usp5	C	G	6: 124,822,630	K318N	possibly damaging	Het
Vmn2r8	T	G	5: 108,799,263	E541A	probably benign	Het
Ybx1	A	T	4: 119,278,938		probably benign	Het
Zfp39	T	A	11: 58,891,231	Y235F	possibly damaging	Het
Zfp422	T	A	6: 116,626,943	K32*	probably null	Het
Zpbp2	T	A	11: 98,551,324		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
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
R6615:Hdac5	UTSW	11	102197056	splice site	probably null
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
R9516:Hdac5	UTSW	11	102202696	missense	probably benign	0.08
R9595:Hdac5	UTSW	11	102205303	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GACAGAGATCAGAGCCCTTCAG -3'
(R):5'- GGTAAGATCACCTCTCCTGTCC -3'

Sequencing Primer
(F):5'- TTCAGGAGCCTGTGGGACAAATC -3'
(R):5'- CTCTCCTGTCCTAATGGTGAAGG -3'

Posted On

2016-04-27