Mutagenetix > Incidental Mutations

Incidental Mutation 'R1673:Hdac5'

187839

Institutional Source

Beutler Lab

Gene Symbol

Hdac5

Ensembl Gene

ENSMUSG00000008855

Gene Name

histone deacetylase 5

Synonyms

mHDA1

MMRRC Submission

039709-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1673 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102194432-102230166 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102198805 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 860 (V860M)

Ref Sequence

ENSEMBL: ENSMUSP00000102770 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000008999
AA Change: V878M

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000008999
Gene: ENSMUSG00000008855
AA Change: V878M

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 damaging
Transcript: ENSMUST00000107150
AA Change: V859M

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102768
Gene: ENSMUSG00000008855
AA Change: V859M

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 damaging
Transcript: ENSMUST00000107151
AA Change: V775M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102769
Gene: ENSMUSG00000008855
AA Change: V775M

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 damaging
Transcript: ENSMUST00000107152
AA Change: V860M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102770
Gene: ENSMUSG00000008855
AA Change: V860M

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

noncoding transcript
Transcript: ENSMUST00000133651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136304

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137787

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140481

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: ENSMUST00000145540

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150965

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155065

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

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 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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,212,339	S809G	probably benign	Het
Ap4b1	T	A	3: 103,817,845		probably null	Het
Aqp12	A	G	1: 93,006,884	Q161R	possibly damaging	Het
Atp8a2	A	G	14: 59,791,240	I926T	probably benign	Het
Cacna2d1	A	T	5: 16,299,990	N314I	probably damaging	Het
Cd209d	A	G	8: 3,877,113	S81P	probably damaging	Het
Cdcp1	T	A	9: 123,178,021	K554*	probably null	Het
Celsr1	A	G	15: 85,932,457	Y1762H	probably benign	Het
Cklf	A	G	8: 104,257,351	T49A	possibly damaging	Het
Col12a1	T	G	9: 79,693,538	I755L	probably benign	Het
Cts3	G	A	13: 61,567,554	Q140*	probably null	Het
Ddx1	A	T	12: 13,244,966		probably null	Het
Dnah3	C	A	7: 119,971,179	E2262*	probably null	Het
Dnah5	A	G	15: 28,290,148	N1228S	probably benign	Het
Dsg1a	G	A	18: 20,331,504	R352Q	probably damaging	Het
Efcab5	A	G	11: 77,151,853	F25L	probably damaging	Het
Efhd1	T	A	1: 87,264,682	V78D	probably damaging	Het
Eif5a2	T	C	3: 28,793,818		probably null	Het
Elp2	T	A	18: 24,611,926	V101D	possibly damaging	Het
Enpp2	A	T	15: 54,910,196		probably null	Het
F5	A	G	1: 164,179,520	T298A	probably damaging	Het
Fam208b	A	G	13: 3,584,498		probably null	Het
Fbxo21	G	T	5: 118,008,064	R584L	probably benign	Het
Fbxw22	G	T	9: 109,382,128	F368L	possibly damaging	Het
Gcn1l1	T	C	5: 115,582,297	I409T	probably benign	Het
Gm10260	A	T	13: 97,760,360	Y77N	possibly damaging	Het
Gm12887	T	C	4: 121,616,458	Y65C	probably damaging	Het
Gria4	G	A	9: 4,537,637	Q224*	probably null	Het
Ino80	G	A	2: 119,381,936	R1302C	probably damaging	Het
Kcns2	A	T	15: 34,838,820	I110F	probably damaging	Het
Lrig3	A	G	10: 126,010,167	T822A	probably damaging	Het
Mapk6	T	C	9: 75,395,569	D214G	probably damaging	Het
Mcm2	A	T	6: 88,892,078	L264Q	probably benign	Het
Mpnd	A	T	17: 56,010,455	Y64F	probably damaging	Het
Muc1	T	A	3: 89,231,772	M520K	possibly damaging	Het
Muc4	T	A	16: 32,756,902	S189T	probably benign	Het
Myh13	T	C	11: 67,352,119	S953P	possibly damaging	Het
Ncf2	A	T	1: 152,830,479	M281L	probably benign	Het
Nipal2	A	G	15: 34,648,695	I116T	probably damaging	Het
Nptn	T	C	9: 58,623,732	L46P	probably benign	Het
Olfr11	A	T	13: 21,639,044	S160T	probably damaging	Het
Olfr1283	A	G	2: 111,369,207	T192A	probably benign	Het
Olfr290	T	A	7: 84,916,117	F113I	probably damaging	Het
Olfr610	C	A	7: 103,506,689	V86F	probably damaging	Het
Pgr	A	T	9: 8,902,068	Y534F	possibly damaging	Het
Pip4k2a	A	T	2: 18,872,282		probably null	Het
Pkd1l2	C	G	8: 117,040,775	V1259L	probably benign	Het
Ppp1r12a	A	G	10: 108,249,565	E457G	probably damaging	Het
Rasa4	T	A	5: 136,104,637	V650D	probably benign	Het
Rem2	C	T	14: 54,476,309		probably benign	Het
Sdc1	G	A	12: 8,790,409	R62Q	possibly damaging	Het
Sdk1	A	G	5: 141,948,506	E366G	possibly damaging	Het
Setd2	T	A	9: 110,604,180	H2406Q	probably damaging	Het
Slc30a5	A	G	13: 100,813,383	V397A	probably benign	Het
Slc36a2	A	T	11: 55,184,913	L16H	possibly damaging	Het
Slc44a1	T	C	4: 53,542,468	V334A	probably benign	Het
Sox8	A	T	17: 25,567,482	Y416N	possibly damaging	Het
Speg	T	C	1: 75,411,163	V1416A	possibly damaging	Het
Stk24	T	A	14: 121,337,571	I42F	probably damaging	Het
Tcerg1	T	A	18: 42,552,581	L661Q	possibly damaging	Het
Tmem110	T	C	14: 30,864,434	L72S	possibly damaging	Het
Tpp1	G	A	7: 105,747,673	R417W	probably damaging	Het
Trim12a	T	A	7: 104,306,057	D153V	possibly damaging	Het
Trpm2	T	C	10: 77,942,944	N396S	probably benign	Het
Ttn	T	C	2: 76,807,083	K5695R	probably damaging	Het
Ttn	G	A	2: 76,810,287	R11960C	probably damaging	Het
Tulp3	A	C	6: 128,333,943		probably null	Het
Uaca	T	A	9: 60,872,156	L1273H	probably damaging	Het
Usp33	A	G	3: 152,368,282	E255G	probably damaging	Het
Vmn2r54	T	G	7: 12,616,211		probably null	Het
Vwa8	C	T	14: 78,908,230	R116C	probably damaging	Het
Wnt5b	A	T	6: 119,446,354	F116L	probably benign	Het
Zbtb12	CTTCAT	CTTCATTCAT	17: 34,896,308		probably null	Het
Zbtb12	TCATC	TCATCCATC	17: 34,896,310		probably null	Het
Zfp408	G	A	2: 91,646,008	T367I	probably damaging	Het
Zfp512b	G	A	2: 181,588,493	A480V	possibly damaging	Het
Zfp560	T	C	9: 20,347,653	T638A	probably benign	Het
Zfp932	G	T	5: 110,008,988	G151V	probably damaging	Het
Zpbp	T	C	11: 11,352,696	K320E	probably damaging	Het
Zranb2	C	T	3: 157,537,640	P91L	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- CACTGCTCAAGGTAAGACATCTGGC -3'
(R):5'- ATGTGAGTACCCCTCTGACCTGAC -3'

Sequencing Primer
(F):5'- CAAGGTAAGACATCTGGCTGTTG -3'
(R):5'- GACCTGACATCCTTCTGCCATC -3'

Posted On

2014-05-09