Mutagenetix > Incidental Mutations

Incidental Mutation 'R1879:Hdac9'

211420

Institutional Source

Beutler Lab

Gene Symbol

Hdac9

Ensembl Gene

ENSMUSG00000004698

Gene Name

histone deacetylase 9

Synonyms

Hdac7b, HDRP, Mitr, D030072B18Rik

MMRRC Submission

039900-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1879 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34047580-34917095 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34390333 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 349 (D349V)

Ref Sequence

ENSEMBL: ENSMUSP00000147903 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110819] [ENSMUST00000209667] [ENSMUST00000209750] [ENSMUST00000209902] [ENSMUST00000209990] [ENSMUST00000210724] [ENSMUST00000211107] [ENSMUST00000211752]

Predicted Effect

probably benign
Transcript: ENSMUST00000110819
AA Change: D349V

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000106443
Gene: ENSMUSG00000004698
AA Change: D349V

Domain	Start	End	E-Value	Type
Pfam:HDAC4_Gln	37	124	5.4e-36	PFAM
low complexity region	260	284	N/A	INTRINSIC
low complexity region	370	382	N/A	INTRINSIC
low complexity region	389	400	N/A	INTRINSIC
low complexity region	464	480	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209667
AA Change: D305V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000209750
AA Change: D352V

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000209902
AA Change: D349V

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000209990
AA Change: D308V

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210724
AA Change: D349V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000211107
AA Change: D321V

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000211752
AA Change: D373V

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 97.3%
3x: 96.6%
10x: 94.9%
20x: 91.6%

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 has sequence homology to members of the histone deacetylase family. This gene is orthologous to the Xenopus and mouse MITR genes. The MITR protein lacks the histone deacetylase catalytic domain. It represses MEF2 activity through recruitment of multicomponent corepressor complexes that include CtBP and HDACs. This encoded protein may play a role in hematopoiesis. Multiple alternatively spliced transcripts have been described for this gene but the full-length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display age dependent cardiac hypertrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	C	2: 30,796,476	D268G	possibly damaging	Het
8430408G22Rik	G	A	6: 116,651,722	V9M	possibly damaging	Het
Abce1	T	C	8: 79,687,456	N542S	probably benign	Het
Abcf1	T	A	17: 35,961,812	E260D	probably benign	Het
Ahcy	A	G	2: 155,064,152		probably null	Het
Akap13	C	T	7: 75,610,727	A1033V	probably benign	Het
Alkbh6	A	G	7: 30,311,895	N46S	probably damaging	Het
Ankrd34c	A	C	9: 89,730,073	L72V	probably damaging	Het
Arf4	T	A	14: 26,646,921	N25K	probably damaging	Het
Arhgef4	A	G	1: 34,722,440	D259G	unknown	Het
Cavin1	C	A	11: 100,970,210	G86V	probably damaging	Het
Ces1d	G	A	8: 93,189,498	T167I	probably benign	Het
Cfb	T	C	17: 34,860,560	I754V	probably benign	Het
Clcnkb	C	T	4: 141,407,819	R536H	possibly damaging	Het
Clpb	T	G	7: 101,706,483	S181R	probably benign	Het
Col1a1	T	C	11: 94,951,225	M1366T	unknown	Het
Cped1	T	A	6: 22,085,015		probably null	Het
Crip1	G	A	12: 113,153,332	C82Y	probably damaging	Het
Csmd3	T	C	15: 47,657,519	T2810A	possibly damaging	Het
Cyp2b9	A	T	7: 26,198,569	D266V	probably damaging	Het
Cyp46a1	A	G	12: 108,353,126	D294G	probably damaging	Het
Dst	A	G	1: 34,188,843	E1514G	probably benign	Het
Dync1h1	A	G	12: 110,624,636	E1046G	probably benign	Het
Eya2	T	C	2: 165,664,806	V4A	probably benign	Het
Frem3	A	T	8: 80,611,938	R287*	probably null	Het
Fuca2	T	A	10: 13,507,256	C323S	possibly damaging	Het
Ggt7	T	C	2: 155,514,787	E4G	possibly damaging	Het
Gli1	C	T	10: 127,333,737	R383H	probably damaging	Het
Gm4559	C	A	7: 142,274,261	V35F	unknown	Het
Gpm6a	T	A	8: 55,037,330	C14S	probably damaging	Het
Hcn2	A	T	10: 79,726,189	I340F	probably benign	Het
Krt34	T	C	11: 100,038,292	D364G	possibly damaging	Het
Mon2	C	T	10: 123,002,885	R1565H	probably damaging	Het
Myb	T	A	10: 21,141,977	M482L	probably benign	Het
Nckap1l	A	T	15: 103,464,601	I294F	probably benign	Het
Nr2e1	A	G	10: 42,568,371		probably null	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Olfr1282	A	T	2: 111,335,463	I205N	possibly damaging	Het
Olfr345	G	T	2: 36,640,189	R50M	possibly damaging	Het
Olfr398	T	A	11: 73,984,542	D22V	probably benign	Het
Olfr652	T	C	7: 104,564,911	V230A	possibly damaging	Het
Pde8b	A	T	13: 95,085,215	I308N	possibly damaging	Het
Pdzd2	T	C	15: 12,373,900	R2050G	possibly damaging	Het
Phc3	C	A	3: 30,914,458	S840I	probably damaging	Het
Piezo2	T	A	18: 63,113,960	Y327F	probably damaging	Het
Pnliprp1	A	T	19: 58,744,084	I460F	probably benign	Het
Pphln1	T	G	15: 93,424,046	D35E	probably damaging	Het
Prdm6	G	A	18: 53,568,217	V360I	probably damaging	Het
Rab35	T	A	5: 115,640,160	W62R	probably damaging	Het
Sct	G	T	7: 141,278,699	P70Q	probably damaging	Het
Sdf4	A	G	4: 156,009,847	N328S	probably damaging	Het
Senp5	A	T	16: 31,983,824	S488R	probably damaging	Het
Serpina3n	A	G	12: 104,408,954	E95G	probably benign	Het
Sfswap	C	T	5: 129,541,328	A442V	probably benign	Het
Sgcd	T	C	11: 47,355,241	I45V	probably benign	Het
Sgcg	T	C	14: 61,236,897		probably null	Het
Slc39a12	G	T	2: 14,444,057	V489L	probably benign	Het
Slc5a11	T	A	7: 123,239,448	I96N	possibly damaging	Het
Slc6a12	A	G	6: 121,347,423	D2G	probably damaging	Het
Slc8a1	T	C	17: 81,648,013	D532G	probably damaging	Het
Smarcd3	C	A	5: 24,593,021	C465F	probably damaging	Het
Smc1b	T	A	15: 85,092,067	Q813L	probably benign	Het
Spag1	G	A	15: 36,181,770	E25K	probably damaging	Het
Sptan1	A	T	2: 29,995,528	N715I	probably damaging	Het
Tas1r2	T	A	4: 139,669,695	Y782N	probably damaging	Het
Thap3	A	T	4: 151,983,136	C162S	probably benign	Het
Topaz1	T	A	9: 122,749,619	D531E	possibly damaging	Het
Vmn1r25	C	T	6: 57,978,927	A126T	possibly damaging	Het
Zfhx2	A	G	14: 55,065,617	F1637L	probably benign	Het
Zfhx2	T	C	14: 55,072,749	Y780C	possibly damaging	Het
Zfp513	T	G	5: 31,200,423	K202T	probably damaging	Het
Zfp956	A	T	6: 47,963,744	T346S	probably benign	Het
Zkscan1	C	T	5: 138,097,148	A219V	probably damaging	Het

Other mutations in Hdac9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01317:Hdac9	APN	12	34429489	splice site	probably benign
IGL01484:Hdac9	APN	12	34437165	missense	probably damaging	1.00
IGL02010:Hdac9	APN	12	34431945	missense	probably damaging	1.00
IGL02059:Hdac9	APN	12	34431968	missense	probably damaging	0.97
IGL02276:Hdac9	APN	12	34431926	missense	probably damaging	1.00
IGL02797:Hdac9	APN	12	34393274	splice site	probably benign
IGL03202:Hdac9	APN	12	34373951	missense	probably damaging	1.00
PIT4468001:Hdac9	UTSW	12	34095934	missense	unknown
R0304:Hdac9	UTSW	12	34374111	missense	probably damaging	1.00
R0432:Hdac9	UTSW	12	34437222	missense	probably damaging	1.00
R0659:Hdac9	UTSW	12	34437222	missense	probably damaging	1.00
R1826:Hdac9	UTSW	12	34429492	splice site	probably benign
R1942:Hdac9	UTSW	12	34429545	missense	probably damaging	1.00
R2113:Hdac9	UTSW	12	34389332	missense	probably damaging	1.00
R2151:Hdac9	UTSW	12	34390256	missense	probably damaging	1.00
R2216:Hdac9	UTSW	12	34429517	missense	probably damaging	1.00
R2224:Hdac9	UTSW	12	34407802	missense	probably benign	0.09
R2225:Hdac9	UTSW	12	34407802	missense	probably benign	0.09
R2227:Hdac9	UTSW	12	34407802	missense	probably benign	0.09
R3500:Hdac9	UTSW	12	34437353	missense	probably benign	0.01
R4441:Hdac9	UTSW	12	34389376	missense	probably damaging	1.00
R4674:Hdac9	UTSW	12	34373960	missense	possibly damaging	0.96
R4694:Hdac9	UTSW	12	34437247	missense	probably damaging	1.00
R5033:Hdac9	UTSW	12	34373907	missense	probably benign
R5229:Hdac9	UTSW	12	34437164	missense	probably damaging	1.00
R5353:Hdac9	UTSW	12	34393393	nonsense	probably null
R5384:Hdac9	UTSW	12	34429558	missense	probably damaging	1.00
R5958:Hdac9	UTSW	12	34373883	missense	probably damaging	0.97
R6129:Hdac9	UTSW	12	34287475	missense	probably damaging	1.00
R6157:Hdac9	UTSW	12	34389429	missense	probably damaging	1.00
R6248:Hdac9	UTSW	12	34528294	missense	possibly damaging	0.79
R6333:Hdac9	UTSW	12	34052324	missense	probably damaging	0.98
R6474:Hdac9	UTSW	12	34431991	critical splice acceptor site	probably null
R6589:Hdac9	UTSW	12	34215029	missense	probably damaging	1.00
R6737:Hdac9	UTSW	12	34215452	missense	probably damaging	1.00
R6767:Hdac9	UTSW	12	34287529	missense	probably damaging	1.00
R6837:Hdac9	UTSW	12	34287464	missense	probably benign	0.12
R6857:Hdac9	UTSW	12	34393363	missense	probably benign	0.37
R7069:Hdac9	UTSW	12	34429549	missense	possibly damaging	0.92
R7237:Hdac9	UTSW	12	34374140	critical splice acceptor site	probably null
R7768:Hdac9	UTSW	12	34390240	missense	possibly damaging	0.81
R7917:Hdac9	UTSW	12	34433210	missense	probably benign	0.31
R7974:Hdac9	UTSW	12	34303220	missense	possibly damaging	0.87
R7990:Hdac9	UTSW	12	34215453	missense	probably benign	0.05
Z1088:Hdac9	UTSW	12	34407789	missense	probably damaging	1.00
Z1176:Hdac9	UTSW	12	34373987	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCGCATTTGTTCCTTCAGCAG -3'
(R):5'- AGTGCCTCAACTGCATCTTTTG -3'

Sequencing Primer
(F):5'- CATTTGTTCCTTCAGCAGTAGGTG -3'
(R):5'- CCTTTAATCCGAGCACTTGGGAG -3'

Posted On

2014-06-30