Mutagenetix > Incidental Mutation

Incidental Mutation 'R1932:Hdac5'

215492

Institutional Source

Beutler Lab

Gene Symbol

Hdac5

Ensembl Gene

ENSMUSG00000008855

Gene Name

histone deacetylase 5

Synonyms

mHDA1

MMRRC Submission

039950-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1932 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102085244-102120968 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 102086698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116672 (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 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: 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 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

unknown
Transcript: ENSMUST00000140962
AA Change: T102S

SMART Domains

Protein: ENSMUSP00000115435
Gene: ENSMUSG00000008855
AA Change: T102S

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: ENSMUST00000136304

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145540

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150965

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153178

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126453

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124594

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139995

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137787

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140481

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145490

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155065

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,190,691 (GRCm39)	Q278H	probably benign	Het
Ace3	T	C	11: 105,895,436 (GRCm39)		probably null	Het
Aco1	T	C	4: 40,176,499 (GRCm39)	V221A	probably damaging	Het
Adamts20	T	A	15: 94,301,891 (GRCm39)	H27L	probably benign	Het
Adamts8	A	G	9: 30,867,808 (GRCm39)	D544G	probably benign	Het
Angptl4	C	A	17: 34,000,249 (GRCm39)	E40*	probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atf7ip2	T	A	16: 10,059,567 (GRCm39)	I369N	possibly damaging	Het
Atp6ap1l	T	A	13: 91,031,806 (GRCm39)	Y292F	probably damaging	Het
Atp6v1b2	A	T	8: 69,555,459 (GRCm39)	K217*	probably null	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Blvra	T	A	2: 126,937,068 (GRCm39)	W174R	probably damaging	Het
Catsperg1	C	T	7: 28,897,568 (GRCm39)	G239R	probably damaging	Het
Ccdc157	G	T	11: 4,096,549 (GRCm39)	A400D	probably damaging	Het
Chd2	G	T	7: 73,104,193 (GRCm39)	P1298T	probably damaging	Het
CK137956	G	A	4: 127,840,651 (GRCm39)	L352F	possibly damaging	Het
Col22a1	G	A	15: 71,741,989 (GRCm39)	P503S	unknown	Het
Cox15	C	T	19: 43,735,224 (GRCm39)	R181H	probably benign	Het
Crem	C	T	18: 3,299,284 (GRCm39)	G47R	probably benign	Het
Crygs	T	A	16: 22,625,304 (GRCm39)	T46S	probably benign	Het
Cts8	T	A	13: 61,401,429 (GRCm39)	H62L	probably damaging	Het
Cyp4a32	T	A	4: 115,468,474 (GRCm39)	F319I	possibly damaging	Het
Dchs1	T	C	7: 105,415,109 (GRCm39)	S692G	probably damaging	Het
Ddx23	G	A	15: 98,548,599 (GRCm39)	R370W	possibly damaging	Het
Defa29	A	T	8: 21,816,865 (GRCm39)	S43T	probably damaging	Het
Dnajc14	A	G	10: 128,652,661 (GRCm39)	D573G	probably damaging	Het
Drd5	A	G	5: 38,477,319 (GRCm39)	Y104C	probably benign	Het
Efcab7	C	T	4: 99,768,215 (GRCm39)	P102L	probably damaging	Het
Efhc1	A	G	1: 21,037,624 (GRCm39)	Y267C	probably damaging	Het
Eif2ak4	T	C	2: 118,278,967 (GRCm39)	Y243H	probably damaging	Het
Gfm2	T	A	13: 97,278,475 (GRCm39)	I7N	probably damaging	Het
Gmds	A	G	13: 32,311,980 (GRCm39)	F150L	possibly damaging	Het
Gp2	T	C	7: 119,053,455 (GRCm39)	T169A	possibly damaging	Het
Grb14	A	G	2: 64,743,146 (GRCm39)	F508L	probably damaging	Het
Heatr1	T	A	13: 12,450,066 (GRCm39)	M620K	probably damaging	Het
Herc3	A	G	6: 58,853,778 (GRCm39)	E608G	probably damaging	Het
Hoxb4	T	C	11: 96,210,867 (GRCm39)	Y156H	probably damaging	Het
Ifi205	T	A	1: 173,855,980 (GRCm39)	I17F	possibly damaging	Het
Il2rb	A	T	15: 78,375,977 (GRCm39)	S25T	possibly damaging	Het
Kansl1	T	C	11: 104,225,923 (GRCm39)	T998A	probably damaging	Het
Kcna6	G	T	6: 126,715,451 (GRCm39)	H479Q	probably benign	Het
Kif2a	T	C	13: 107,114,599 (GRCm39)	K350R	probably benign	Het
Lct	G	T	1: 128,221,898 (GRCm39)	A1547E	probably damaging	Het
Lhx9	T	A	1: 138,769,747 (GRCm39)		probably benign	Het
Lingo1	T	A	9: 56,526,934 (GRCm39)	I552F	possibly damaging	Het
Lrp4	G	A	2: 91,327,700 (GRCm39)	W1516*	probably null	Het
Lrp5	C	T	19: 3,660,131 (GRCm39)	V978I	probably benign	Het
Ltbp1	T	A	17: 75,620,029 (GRCm39)	D719E	probably benign	Het
Ltbp4	A	G	7: 27,007,191 (GRCm39)		probably null	Het
Macf1	A	G	4: 123,345,830 (GRCm39)	I1326T	probably damaging	Het
Manba	T	C	3: 135,250,501 (GRCm39)	F376S	probably benign	Het
Mink1	T	C	11: 70,499,254 (GRCm39)		probably null	Het
Nfatc2ip	C	T	7: 125,984,164 (GRCm39)	V410I	probably damaging	Het
Nlrp1b	A	T	11: 71,072,964 (GRCm39)	I293N	probably damaging	Het
Or10aa3	T	C	1: 173,878,244 (GRCm39)	Y102H	probably damaging	Het
Otol1	A	C	3: 69,935,437 (GRCm39)	E476D	probably benign	Het
Pcdhb4	C	T	18: 37,442,594 (GRCm39)	P635S	probably benign	Het
Pfkfb4	T	A	9: 108,828,237 (GRCm39)	F91I	probably damaging	Het
Polq	G	A	16: 36,882,666 (GRCm39)	R1610Q	possibly damaging	Het
Polr3c	A	T	3: 96,626,614 (GRCm39)	L270H	probably damaging	Het
Ppp1r15b	C	T	1: 133,059,363 (GRCm39)		probably benign	Het
Prkca	T	G	11: 108,082,975 (GRCm39)	D90A	probably benign	Het
Sall3	T	C	18: 81,012,968 (GRCm39)	D1156G	probably benign	Het
Scn7a	A	T	2: 66,506,446 (GRCm39)	L1481H	probably damaging	Het
Selenon	A	T	4: 134,271,929 (GRCm39)	I292N	probably damaging	Het
Sema6d	T	A	2: 124,501,806 (GRCm39)		probably null	Het
Sgpp1	G	T	12: 75,762,953 (GRCm39)	Y409*	probably null	Het
Sh3pxd2a	A	G	19: 47,255,947 (GRCm39)	S924P	probably benign	Het
Slc25a13	A	G	6: 6,042,264 (GRCm39)	V638A	probably benign	Het
Snhg11	T	C	2: 158,218,746 (GRCm39)		probably benign	Het
Sorbs2	A	G	8: 46,249,389 (GRCm39)	Q800R	probably benign	Het
Srf	C	A	17: 46,860,912 (GRCm39)	G401C	probably damaging	Het
Stradb	A	C	1: 59,030,264 (GRCm39)	N173H	probably benign	Het
Swap70	C	T	7: 109,878,470 (GRCm39)	A480V	possibly damaging	Het
Sycp2	A	G	2: 178,023,750 (GRCm39)	V422A	probably damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tet3	T	C	6: 83,381,361 (GRCm39)	N269S	possibly damaging	Het
Thap12	A	T	7: 98,366,045 (GRCm39)	I738F	possibly damaging	Het
Tiam2	C	T	17: 3,565,000 (GRCm39)	R1413C	possibly damaging	Het
Tmem229a	A	T	6: 24,955,010 (GRCm39)	F248Y	probably damaging	Het
Tmprss7	G	A	16: 45,504,956 (GRCm39)	Q145*	probably null	Het
Tnc	A	T	4: 63,911,262 (GRCm39)		probably null	Het
Tonsl	A	T	15: 76,508,797 (GRCm39)	Y21N	probably damaging	Het
Tpr	A	G	1: 150,297,414 (GRCm39)	D1009G	probably benign	Het
Trpm2	G	A	10: 77,776,992 (GRCm39)	A435V	probably damaging	Het
Ubr3	T	A	2: 69,783,820 (GRCm39)		probably null	Het
Vcan	T	C	13: 89,853,653 (GRCm39)	N436D	possibly damaging	Het
Vmn2r104	T	A	17: 20,261,031 (GRCm39)	Y464F	probably damaging	Het
Vmn2r44	T	A	7: 8,370,981 (GRCm39)	R688S	probably benign	Het
Wdr74	G	T	19: 8,715,311 (GRCm39)	V157L	probably benign	Het
Wnt7a	T	A	6: 91,371,530 (GRCm39)	D144V	probably benign	Het
Zfp106	C	T	2: 120,362,162 (GRCm39)	A986T	possibly damaging	Het

Other mutations in Hdac5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00815:Hdac5	APN	11	102,088,168 (GRCm39)	missense	probably damaging	1.00
IGL01614:Hdac5	APN	11	102,090,854 (GRCm39)	missense	probably benign	0.38
IGL01799:Hdac5	APN	11	102,090,911 (GRCm39)	missense	possibly damaging	0.71
IGL02839:Hdac5	APN	11	102,095,734 (GRCm39)	missense	probably damaging	1.00
E0354:Hdac5	UTSW	11	102,092,972 (GRCm39)	unclassified	probably benign
R0544:Hdac5	UTSW	11	102,086,922 (GRCm39)	missense	probably damaging	1.00
R0612:Hdac5	UTSW	11	102,087,078 (GRCm39)	missense	possibly damaging	0.92
R0632:Hdac5	UTSW	11	102,096,638 (GRCm39)	missense	probably damaging	1.00
R0659:Hdac5	UTSW	11	102,086,850 (GRCm39)	missense	probably damaging	1.00
R0930:Hdac5	UTSW	11	102,095,472 (GRCm39)	missense	probably benign	0.02
R1195:Hdac5	UTSW	11	102,096,332 (GRCm39)	missense	probably damaging	0.99
R1195:Hdac5	UTSW	11	102,096,332 (GRCm39)	missense	probably damaging	0.99
R1195:Hdac5	UTSW	11	102,096,332 (GRCm39)	missense	probably damaging	0.99
R1475:Hdac5	UTSW	11	102,093,012 (GRCm39)	missense	possibly damaging	0.94
R1491:Hdac5	UTSW	11	102,092,079 (GRCm39)	missense	probably benign
R1596:Hdac5	UTSW	11	102,095,482 (GRCm39)	splice site	probably null
R1673:Hdac5	UTSW	11	102,089,631 (GRCm39)	missense	probably damaging	1.00
R1783:Hdac5	UTSW	11	102,091,342 (GRCm39)	missense	probably benign
R2197:Hdac5	UTSW	11	102,095,340 (GRCm39)	missense	probably damaging	1.00
R2348:Hdac5	UTSW	11	102,090,840 (GRCm39)	missense	probably benign	0.44
R2518:Hdac5	UTSW	11	102,087,962 (GRCm39)	missense	probably damaging	1.00
R3081:Hdac5	UTSW	11	102,096,436 (GRCm39)	missense	probably damaging	1.00
R3622:Hdac5	UTSW	11	102,086,644 (GRCm39)	missense	probably benign	0.34
R4543:Hdac5	UTSW	11	102,104,770 (GRCm39)	intron	probably benign
R4559:Hdac5	UTSW	11	102,089,928 (GRCm39)	unclassified	probably benign
R4661:Hdac5	UTSW	11	102,096,675 (GRCm39)	missense	probably damaging	1.00
R4682:Hdac5	UTSW	11	102,097,456 (GRCm39)	missense	probably null	0.99
R4708:Hdac5	UTSW	11	102,093,019 (GRCm39)	missense	probably damaging	0.97
R4933:Hdac5	UTSW	11	102,091,389 (GRCm39)	unclassified	probably benign
R4957:Hdac5	UTSW	11	102,096,082 (GRCm39)	unclassified	probably benign
R4991:Hdac5	UTSW	11	102,096,450 (GRCm39)	missense	probably damaging	1.00
R5090:Hdac5	UTSW	11	102,088,539 (GRCm39)	missense	probably damaging	1.00
R5103:Hdac5	UTSW	11	102,087,109 (GRCm39)	missense	probably damaging	0.98
R5330:Hdac5	UTSW	11	102,088,180 (GRCm39)	missense	probably damaging	1.00
R5331:Hdac5	UTSW	11	102,088,180 (GRCm39)	missense	probably damaging	1.00
R5386:Hdac5	UTSW	11	102,092,967 (GRCm39)	missense	possibly damaging	0.71
R5449:Hdac5	UTSW	11	102,086,923 (GRCm39)	nonsense	probably null
R5682:Hdac5	UTSW	11	102,104,749 (GRCm39)	intron	probably benign
R6615:Hdac5	UTSW	11	102,087,882 (GRCm39)	splice site	probably null
R6705:Hdac5	UTSW	11	102,092,062 (GRCm39)	missense	probably damaging	0.99
R6875:Hdac5	UTSW	11	102,093,102 (GRCm39)	missense	probably damaging	1.00
R6952:Hdac5	UTSW	11	102,095,786 (GRCm39)	missense	probably benign
R7179:Hdac5	UTSW	11	102,095,385 (GRCm39)	missense	possibly damaging	0.74
R7368:Hdac5	UTSW	11	102,088,207 (GRCm39)	missense	probably null	1.00
R8140:Hdac5	UTSW	11	102,088,181 (GRCm39)	missense	probably damaging	1.00
R8151:Hdac5	UTSW	11	102,097,294 (GRCm39)	missense	probably benign	0.00
R8684:Hdac5	UTSW	11	102,096,147 (GRCm39)	missense	probably benign	0.01
R8719:Hdac5	UTSW	11	102,097,963 (GRCm39)	missense	probably benign	0.18
R8751:Hdac5	UTSW	11	102,109,280 (GRCm39)	missense	probably benign	0.19
R8893:Hdac5	UTSW	11	102,097,512 (GRCm39)	missense	possibly damaging	0.82
R9337:Hdac5	UTSW	11	102,096,178 (GRCm39)	missense	probably damaging	1.00
R9516:Hdac5	UTSW	11	102,093,522 (GRCm39)	missense	probably benign	0.08
R9595:Hdac5	UTSW	11	102,096,129 (GRCm39)	missense	probably benign	0.06

Predicted Primers

Posted On

2014-07-14