Mutagenetix > Incidental Mutation

Incidental Mutation 'R5682:Hdac5'

443143

Institutional Source

Beutler Lab

Gene Symbol

Hdac5

Ensembl Gene

ENSMUSG00000008855

Gene Name

histone deacetylase 5

Synonyms

mHDA1

MMRRC Submission

043318-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5682 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102085244-102120968 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 102104749 bp (GRCm39)

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: ENSMUST00000128686

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: 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: 99.7%
3x: 99.0%
10x: 97.4%
20x: 95.3%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	T	11: 94,283,723 (GRCm39)	S7T	probably benign	Het
Acot4	G	A	12: 84,085,576 (GRCm39)	V98M	probably damaging	Het
Acsm2	A	T	7: 119,162,774 (GRCm39)	N41I	probably benign	Het
Adamtsl3	A	T	7: 82,255,758 (GRCm39)	N1590I	probably damaging	Het
Ank3	G	A	10: 69,729,347 (GRCm39)	G714R	probably damaging	Het
Armh4	T	C	14: 49,989,043 (GRCm39)	D642G	probably damaging	Het
Ash1l	G	A	3: 88,914,914 (GRCm39)	R1848Q	probably damaging	Het
Atp1a4	A	T	1: 172,081,730 (GRCm39)	Y141N	probably damaging	Het
Atxn3	A	T	12: 101,924,406 (GRCm39)	I1N	probably damaging	Het
Avil	A	C	10: 126,849,973 (GRCm39)	Q608P	probably damaging	Het
Axin1	T	C	17: 26,406,775 (GRCm39)	V456A	probably benign	Het
Cacna1g	A	G	11: 94,349,940 (GRCm39)	L635P	probably damaging	Het
Card11	G	A	5: 140,888,666 (GRCm39)	Q231*	probably null	Het
Ccdc162	G	A	10: 41,432,799 (GRCm39)	R500*	probably null	Het
Cdh24	T	C	14: 54,874,805 (GRCm39)	D400G	probably damaging	Het
Cep112	T	C	11: 108,361,138 (GRCm39)	L164P	probably damaging	Het
Corin	A	G	5: 72,579,497 (GRCm39)	S224P	possibly damaging	Het
Csgalnact2	T	C	6: 118,097,953 (GRCm39)	Y371C	probably damaging	Het
Cspg4	A	T	9: 56,793,480 (GRCm39)	E405V	probably benign	Het
Ctnna3	T	A	10: 64,709,085 (GRCm39)	M708K	probably damaging	Het
Cyp7a1	T	A	4: 6,268,429 (GRCm39)	Y432F	probably benign	Het
Dcaf11	T	A	14: 55,800,883 (GRCm39)	V113E	probably damaging	Het
Dhx29	T	C	13: 113,067,383 (GRCm39)	I88T	probably damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Elmo2	A	G	2: 165,139,330 (GRCm39)	F406L	probably damaging	Het
Eps15l1	G	A	8: 73,125,592 (GRCm39)	Q648*	probably null	Het
Fam171a1	G	A	2: 3,227,126 (GRCm39)	R753Q	probably damaging	Het
Figla	T	A	6: 85,995,604 (GRCm39)	V86E	probably damaging	Het
Galnt7	C	A	8: 58,036,967 (GRCm39)	E141*	probably null	Het
Garnl3	A	G	2: 32,944,185 (GRCm39)	Y125H	probably damaging	Het
Gnb5	A	G	9: 75,234,523 (GRCm39)	D74G	probably damaging	Het
Grk1	A	T	8: 13,464,351 (GRCm39)	I408F	possibly damaging	Het
Has1	A	T	17: 18,064,425 (GRCm39)	W405R	possibly damaging	Het
Helq	T	A	5: 100,933,170 (GRCm39)	M555L	probably benign	Het
Hipk2	T	C	6: 38,714,408 (GRCm39)	N556S	possibly damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Ing3	T	C	6: 21,968,949 (GRCm39)	S144P	probably damaging	Het
Itgb1	G	A	8: 129,453,549 (GRCm39)		probably null	Het
Kcnh4	A	T	11: 100,640,628 (GRCm39)	M466K	possibly damaging	Het
Krit1	T	A	5: 3,880,737 (GRCm39)	N565K	probably damaging	Het
Limk1	A	C	5: 134,694,059 (GRCm39)		probably null	Het
Lrif1	T	C	3: 106,639,884 (GRCm39)	I323T	possibly damaging	Het
Macf1	T	C	4: 123,328,552 (GRCm39)	E1811G	probably damaging	Het
Mctp2	A	C	7: 71,895,207 (GRCm39)		probably null	Het
Mmp21	A	G	7: 133,276,358 (GRCm39)	I495T	probably benign	Het
Mpz	A	T	1: 170,986,463 (GRCm39)	T126S	possibly damaging	Het
Napsa	A	G	7: 44,234,768 (GRCm39)	Y301C	possibly damaging	Het
Ncbp1	T	A	4: 46,170,474 (GRCm39)		probably benign	Het
Nup160	A	G	2: 90,510,155 (GRCm39)	E47G	probably benign	Het
Or8b56	A	G	9: 38,739,424 (GRCm39)	I146V	probably benign	Het
Pcdha11	A	G	18: 37,144,502 (GRCm39)	K198E	probably damaging	Het
Pcdha3	A	G	18: 37,081,040 (GRCm39)	D594G	probably damaging	Het
Pdcd5	G	A	7: 35,346,613 (GRCm39)		probably benign	Het
Pdhx	A	T	2: 102,865,685 (GRCm39)	S166T	probably benign	Het
Pigc	A	G	1: 161,798,516 (GRCm39)	Y166C	probably damaging	Het
Prkch	C	T	12: 73,744,724 (GRCm39)	H246Y	probably damaging	Het
Ptk2	A	T	15: 73,134,413 (GRCm39)	L562*	probably null	Het
Rab3ip	C	T	10: 116,743,008 (GRCm39)	W439*	probably null	Het
Rasef	T	A	4: 73,659,208 (GRCm39)	R435*	probably null	Het
Rnf103	C	T	6: 71,485,708 (GRCm39)		probably benign	Het
Rtel1	T	C	2: 180,991,765 (GRCm39)	F388L	probably benign	Het
Sds	A	C	5: 120,621,784 (GRCm39)	S309R	possibly damaging	Het
Sgip1	T	A	4: 102,824,847 (GRCm39)	D736E	possibly damaging	Het
Sgms2	A	G	3: 131,118,611 (GRCm39)	Y291H	probably damaging	Het
Sgsm3	A	G	15: 80,895,661 (GRCm39)		probably null	Het
Siglec1	T	A	2: 130,925,930 (GRCm39)	I259F	probably damaging	Het
Sik2	G	A	9: 50,828,382 (GRCm39)	P220L	probably damaging	Het
Slc29a3	A	G	10: 60,551,991 (GRCm39)	V351A	probably benign	Het
Slc36a3	A	G	11: 55,016,489 (GRCm39)	S369P	probably benign	Het
Srgap1	A	T	10: 121,640,919 (GRCm39)	M649K	probably damaging	Het
Thnsl1	A	G	2: 21,216,879 (GRCm39)	E211G	possibly damaging	Het
Tmprss9	A	G	10: 80,733,207 (GRCm39)		probably null	Het
Tpgs1	G	A	10: 79,511,421 (GRCm39)	V188M	probably damaging	Het
Vmn1r201	G	T	13: 22,659,355 (GRCm39)	V190F	probably damaging	Het
Vmn1r64	A	T	7: 5,886,622 (GRCm39)	L307Q	possibly damaging	Het
Wbp11	T	C	6: 136,791,252 (GRCm39)		probably benign	Het
Wdr35	A	G	12: 9,031,125 (GRCm39)	Y134C	probably damaging	Het
Zan	G	T	5: 137,412,521 (GRCm39)	C3263*	probably null	Het
Zc3h12c	G	T	9: 52,037,876 (GRCm39)	D301E	probably damaging	Het
Zfp365	A	C	10: 67,745,637 (GRCm39)	L47R	probably damaging	Het
Zmym6	C	T	4: 126,998,200 (GRCm39)	P412L	probably 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
R1932:Hdac5	UTSW	11	102,086,698 (GRCm39)	splice site	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
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

PCR Primer
(F):5'- ATAAGCACAAGCCCTGGTC -3'
(R):5'- TATTTGGTGCCAGCCTCCAG -3'

Sequencing Primer
(F):5'- AAGCCCTGGTCCCTGCTC -3'
(R):5'- TGCCAGCCTCCAGGGTTTC -3'

Posted On

2016-11-09