Mutagenetix > Incidental Mutations

Incidental Mutation 'R8140:Hdac5'

632492

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 #

R8140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102194432-102230166 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102197355 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 948 (Y948N)

Ref Sequence

ENSEMBL: ENSMUSP00000008999 (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 damaging
Transcript: ENSMUST00000008999
AA Change: Y948N

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

SMART Domains

Protein: ENSMUSP00000008999
Gene: ENSMUSG00000008855
AA Change: Y948N

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: Y929N

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

SMART Domains

Protein: ENSMUSP00000102768
Gene: ENSMUSG00000008855
AA Change: Y929N

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: Y845N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102769
Gene: ENSMUSG00000008855
AA Change: Y845N

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: Y930N

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

SMART Domains

Protein: ENSMUSP00000102770
Gene: ENSMUSG00000008855
AA Change: Y930N

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: 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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 93.9%

Validation Efficiency

97% (64/66)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,611	V230E	possibly damaging	Het
Amotl1	G	A	9: 14,572,715		probably null	Het
Atp7b	C	A	8: 22,028,560	E87D	probably damaging	Het
Bcat2	C	T	7: 45,588,351	P347L	probably damaging	Het
Brox	A	T	1: 183,293,873		probably null	Het
Cd37	A	G	7: 45,238,535	I58T	probably damaging	Het
Cep295	A	T	9: 15,341,533	M333K	probably benign	Het
Chtop	A	G	3: 90,505,393		probably null	Het
Cpa2	A	T	6: 30,544,905	K54N	probably benign	Het
Cpa6	A	G	1: 10,325,294	S383P	probably damaging	Het
Dnah7a	A	T	1: 53,501,589	I2542N	probably benign	Het
Eif5b	G	A	1: 38,051,276	V1179I	probably benign	Het
Erbin	T	C	13: 103,920,294		probably null	Het
Fastkd5	A	T	2: 130,615,250	D473E	possibly damaging	Het
Fchsd1	T	C	18: 37,964,342	E372G	probably damaging	Het
Fgl1	T	C	8: 41,200,609		probably null	Het
Fzd8	T	G	18: 9,213,797	V293G	probably damaging	Het
Gm4787	T	A	12: 81,378,151	H411L	probably benign	Het
Gm49380	G	T	9: 44,111,972	D326E	probably benign	Het
Hcrtr1	G	A	4: 130,135,290	R240C	probably damaging	Het
Hepacam	A	G	9: 37,383,871	S301G	probably benign	Het
Htra4	A	T	8: 25,030,558	D362E	possibly damaging	Het
Ighv1-9	G	A	12: 114,583,741	P60L	probably damaging	Het
Kcnq3	A	G	15: 65,995,541	I751T	probably damaging	Het
Magi3	T	C	3: 104,034,086	Y851C	probably damaging	Het
Mefv	A	G	16: 3,713,635	S470P	probably benign	Het
Mfsd2a	C	T	4: 122,949,298	V397I	probably benign	Het
Mroh1	C	A	15: 76,433,873	H867N	probably benign	Het
Mthfd1l	C	T	10: 4,007,745	R261*	probably null	Het
Myo3a	A	G	2: 22,407,346	I725M	probably damaging	Het
Neb	T	C	2: 52,209,540	D4766G	possibly damaging	Het
Nek11	G	T	9: 105,392,957	P22Q	probably damaging	Het
Olfr1179	T	C	2: 88,402,113	T274A	possibly damaging	Het
Olfr1497	A	T	19: 13,795,239	V124E	possibly damaging	Het
Olfr178	T	C	16: 58,889,585	T212A	probably benign	Het
Peg10	C	G	6: 4,756,113	Q230E	unknown	Het
Pipox	T	C	11: 77,883,909	D116G	probably benign	Het
Pkd1l2	C	T	8: 117,047,497	R993H	probably benign	Het
Pkdrej	A	C	15: 85,818,410	N1108K	probably damaging	Het
Polr2a	C	T	11: 69,746,376	R291Q	probably benign	Het
Pomt1	T	A	2: 32,244,297	Y277N	probably damaging	Het
Rasal2	A	G	1: 157,299,235	S78P	probably damaging	Het
Rgl1	A	T	1: 152,557,501	L171Q	probably damaging	Het
Sfta2	A	G	17: 35,601,774	E14G	unknown	Het
Sh3rf3	T	A	10: 59,049,355	S353R	possibly damaging	Het
Slc37a1	A	T	17: 31,322,259	I242F	probably damaging	Het
Srfbp1	T	A	18: 52,488,690	D274E	probably damaging	Het
Syne2	T	A	12: 75,912,353	S685R	possibly damaging	Het
Tenm4	A	C	7: 96,895,176	D2170A	probably damaging	Het
Tnr	A	G	1: 159,863,695	T472A	probably damaging	Het
Tspan9	T	C	6: 127,965,278	H203R	probably damaging	Het
Ttn	T	C	2: 76,771,651	T18556A	possibly damaging	Het
Usp25	T	A	16: 77,071,681	Y323*	probably null	Het
Usp31	G	T	7: 121,649,026	R1065S	possibly damaging	Het
Vmn2r103	A	T	17: 19,811,796	T611S	probably damaging	Het
Wdfy4	A	G	14: 33,142,360	V552A		Het
Zap70	G	T	1: 36,771,181	R124L	possibly damaging	Het
Zfand6	A	T	7: 84,632,749	S91T	possibly 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
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
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'- GTGAGAACTCCTGGGCAATG -3'
(R):5'- AGGTCTGACTGCCAGTTGAG -3'

Sequencing Primer
(F):5'- TCACCACTGTCCTGTAAAGGGATG -3'
(R):5'- TCTGACTGCCAGTTGAGCAAAG -3'

Posted On

2020-06-30