Mutagenetix > Incidental Mutation

Incidental Mutation 'R0632:Hdac5'

59732

Institutional Source

Beutler Lab

Gene Symbol

Hdac5

Ensembl Gene

ENSMUSG00000008855

Gene Name

histone deacetylase 5

Synonyms

mHDA1

MMRRC Submission

038821-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0632 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

102194432-102230166 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102205812 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 260 (D260E)

Ref Sequence

ENSEMBL: ENSMUSP00000008999 (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 damaging
Transcript: ENSMUST00000008999
AA Change: D260E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000008999
Gene: ENSMUSG00000008855
AA Change: D260E

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 damaging
Transcript: ENSMUST00000107150
AA Change: D241E

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

SMART Domains

Protein: ENSMUSP00000102768
Gene: ENSMUSG00000008855
AA Change: D241E

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: D242E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102769
Gene: ENSMUSG00000008855
AA Change: D242E

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: D242E

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

SMART Domains

Protein: ENSMUSP00000102770
Gene: ENSMUSG00000008855
AA Change: D242E

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

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

95% (81/85)

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
5730559C18Rik	T	C	1: 136,227,618	D83G	probably benign	Het
Acaa1a	T	A	9: 119,347,818		probably benign	Het
Adgrg7	T	A	16: 56,742,589	T462S	possibly damaging	Het
Akap6	A	T	12: 52,937,148	N825I	probably damaging	Het
Ankib1	T	A	5: 3,772,529	N59I	probably benign	Het
Anks6	T	C	4: 47,033,167	S633G	possibly damaging	Het
Ap4e1	C	A	2: 127,049,280	Y522*	probably null	Het
Art5	G	A	7: 102,097,957	T205I	probably damaging	Het
Ascc2	T	A	11: 4,649,855	L176H	probably damaging	Het
Atp13a5	T	C	16: 29,298,208	D529G	probably benign	Het
C2cd4a	T	C	9: 67,831,563	E66G	probably benign	Het
C8a	T	C	4: 104,856,492	D147G	probably damaging	Het
Ccdc14	T	C	16: 34,721,649	V532A	possibly damaging	Het
Ccdc88a	T	A	11: 29,482,749		probably benign	Het
Cfap54	C	T	10: 92,885,096	E2543K	unknown	Het
Cldn13	C	T	5: 134,914,747	E195K	probably benign	Het
Cp	A	G	3: 19,971,082	S402G	probably null	Het
Cpa3	T	C	3: 20,225,194	T194A	probably benign	Het
Crygf	C	A	1: 65,927,997	Y93*	probably null	Het
Ctsh	A	G	9: 90,061,582	R87G	possibly damaging	Het
Cyp2t4	A	G	7: 27,158,246	D428G	possibly damaging	Het
Dnah17	C	G	11: 118,067,682		probably benign	Het
Dnah3	A	G	7: 119,967,905	V2366A	probably benign	Het
Dscaml1	A	T	9: 45,732,134	I1284F	probably benign	Het
Dsg1c	T	C	18: 20,272,346		probably benign	Het
Dst	G	T	1: 34,271,413	R4098L	probably damaging	Het
Efhb	A	G	17: 53,413,459		probably benign	Het
Epha7	A	T	4: 28,821,104	I90F	probably damaging	Het
Fam171a2	T	A	11: 102,437,881	D684V	probably damaging	Het
Fan1	A	G	7: 64,363,199	V665A	possibly damaging	Het
Fbn2	A	G	18: 58,037,747	C2191R	probably damaging	Het
Fkbp3	G	A	12: 65,073,918	A2V	probably benign	Het
G6pd2	A	G	5: 61,810,171	N430D	probably benign	Het
Gm13119	G	A	4: 144,363,782	C464Y	probably damaging	Het
Gm13547	T	A	2: 29,761,584	D7E	possibly damaging	Het
Hist1h4i	G	T	13: 22,041,027	Y99*	probably null	Het
Hsf2bp	T	C	17: 32,013,346	E142G	probably damaging	Het
Igf1r	C	T	7: 68,165,155	T268I	probably damaging	Het
Kcne3	C	T	7: 100,184,439	R88C	probably damaging	Het
Klk1b9	G	T	7: 43,979,372	G100V	possibly damaging	Het
Kmt2d	G	A	15: 98,853,581		probably benign	Het
Lama1	C	T	17: 67,752,368		probably benign	Het
Lcp2	C	T	11: 34,082,426	P335S	possibly damaging	Het
Lrrk2	T	A	15: 91,796,028	N2047K	probably damaging	Het
Mcub	T	C	3: 129,918,726	M167V	probably benign	Het
Mia2	T	C	12: 59,136,143	L36P	probably damaging	Het
Mmp13	G	A	9: 7,274,032	G169R	probably damaging	Het
Mmp13	A	T	9: 7,282,077	I460F	possibly damaging	Het
Msh4	A	G	3: 153,896,895	I232T	probably damaging	Het
Msra	T	A	14: 64,210,532	M145L	probably benign	Het
Myo7a	A	T	7: 98,112,150		probably benign	Het
Nme8	A	T	13: 19,658,036	N422K	probably damaging	Het
Nol6	A	T	4: 41,121,115	F353I	probably damaging	Het
Nphp3	A	G	9: 104,018,274	K384E	probably damaging	Het
Olfr572	C	T	7: 102,928,604		probably null	Het
Olfr652	A	G	7: 104,564,337	I39V	probably benign	Het
Olfr672	A	G	7: 104,996,703	I67T	probably benign	Het
Phox2b	T	G	5: 67,096,214		probably benign	Het
Plec	A	T	15: 76,173,411	S4131T	probably damaging	Het
Pptc7	G	A	5: 122,313,591		probably benign	Het
Prpf40b	A	G	15: 99,316,289	E810G	probably benign	Het
Ptprc	C	T	1: 138,073,610	V965I	probably benign	Het
Pum1	T	A	4: 130,728,104	M180K	probably benign	Het
Ranbp3	T	C	17: 56,702,896		probably benign	Het
Rasgrf2	A	G	13: 91,972,274	S787P	probably benign	Het
Rnf19b	T	A	4: 129,073,551	N294K	probably damaging	Het
Samd3	A	T	10: 26,244,495	H156L	possibly damaging	Het
Serpinb6c	C	T	13: 33,880,031	R347Q	possibly damaging	Het
Slc36a3	A	G	11: 55,125,080	I416T	probably damaging	Het
Slc4a4	T	A	5: 89,129,641	F279Y	probably damaging	Het
Slc6a2	T	A	8: 92,992,801		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Tab2	A	G	10: 7,919,801	S232P	probably benign	Het
Tacc2	A	T	7: 130,625,595	K1356*	probably null	Het
Tmem87a	A	G	2: 120,359,542	S544P	probably damaging	Het
Trim52	T	A	14: 106,106,967	C20S	probably damaging	Het
Usp38	A	T	8: 81,014,150	V96E	probably benign	Het
Vmn2r59	T	C	7: 42,058,884	Y33C	probably damaging	Het
Vsig10l	T	G	7: 43,464,137	V171G	probably damaging	Het
Zfp957	T	A	14: 79,212,920	I480F	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
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
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'- GTTACACACGGACGACACTACAGG -3'
(R):5'- ACAACTAGCTATCAGGTGGCAGGTC -3'

Sequencing Primer
(F):5'- ACAGGAGAGGTGATCTTACCCC -3'
(R):5'- CGCTTCTTTGGACCAGAGTT -3'

Posted On

2013-07-11