Mutagenetix > Incidental Mutations

Incidental Mutation 'R2216:Hdac9'

241171

Institutional Source

Beutler Lab

Gene Symbol

Hdac9

Ensembl Gene

ENSMUSG00000004698

Gene Name

histone deacetylase 9

Synonyms

Hdac7b, HDRP, Mitr, D030072B18Rik

MMRRC Submission

040218-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2216 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34047580-34917095 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34429517 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 212 (D212E)

Ref Sequence

ENSEMBL: ENSMUSP00000147519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110819] [ENSMUST00000209463] [ENSMUST00000209667] [ENSMUST00000209750] [ENSMUST00000209902] [ENSMUST00000209990] [ENSMUST00000210724] [ENSMUST00000211107] [ENSMUST00000211752]

Predicted Effect

probably damaging
Transcript: ENSMUST00000110819
AA Change: D212E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106443
Gene: ENSMUSG00000004698
AA Change: D212E

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: ENSMUST00000209463

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209667
AA Change: D212E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209750
AA Change: D215E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000209902
AA Change: D212E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000209990
AA Change: D215E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210724
AA Change: D212E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211107
AA Change: D184E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211632

Predicted Effect

probably damaging
Transcript: ENSMUST00000211752
AA Change: D236E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	G	T	11: 72,031,446	P146T	probably damaging	Het
Arnt2	T	A	7: 84,275,351	T423S	probably damaging	Het
Bend5	A	G	4: 111,448,590	N277S	probably null	Het
Cd22	G	T	7: 30,867,046	T816N	probably damaging	Het
Cep126	G	A	9: 8,120,678	R115C	probably damaging	Het
Cep85	T	C	4: 134,131,430	H710R	possibly damaging	Het
Cmya5	A	T	13: 93,093,495	L1695H	probably damaging	Het
Col24a1	T	C	3: 145,314,981	V371A	probably benign	Het
Csmd1	T	A	8: 17,027,339		probably null	Het
Cyp1a1	T	A	9: 57,702,069		probably null	Het
Dennd1c	C	T	17: 57,074,492		probably null	Het
Dmxl1	G	A	18: 49,893,923	V2033I	probably benign	Het
Dtna	A	G	18: 23,569,565	H51R	probably damaging	Het
Dysf	G	A	6: 84,207,245		probably null	Het
Gcn1l1	T	A	5: 115,593,661	V945E	probably benign	Het
Gm12800	T	A	4: 101,910,060	W169R	probably damaging	Het
Gpbar1	C	G	1: 74,278,894	L99V	probably damaging	Het
Itga1	A	T	13: 114,997,029	D448E	probably benign	Het
Itga2b	T	A	11: 102,467,866	N75I	probably benign	Het
Klra7	T	C	6: 130,228,586	E117G	probably benign	Het
Kmt2b	G	A	7: 30,574,065	R2349C	probably benign	Het
Masp1	T	C	16: 23,492,055	N209S	probably benign	Het
Mybpc2	C	T	7: 44,512,500		probably null	Het
Myh15	C	G	16: 49,165,838	S1557*	probably null	Het
Myo3a	A	C	2: 22,577,771	T346P	probably benign	Het
Nim1k	A	G	13: 119,714,215	Y152H	probably damaging	Het
Nrp2	C	T	1: 62,762,918	R507*	probably null	Het
Olfr513	C	T	7: 108,755,612	T252M	probably damaging	Het
Olfr702	T	A	7: 106,823,998	H176L	probably damaging	Het
Parp14	T	C	16: 35,857,205	I798V	probably benign	Het
Pcnx2	C	T	8: 125,888,077	A212T	probably benign	Het
Pkhd1l1	A	T	15: 44,573,895	H3522L	probably damaging	Het
Pram1	C	T	17: 33,641,284	A275V	probably benign	Het
Prkag1	A	T	15: 98,815,946	M1K	probably null	Het
Prss52	T	C	14: 64,113,593	S276P	probably damaging	Het
Ranbp17	A	T	11: 33,481,125	V284D	probably damaging	Het
Reln	T	C	5: 22,048,005	D648G	probably benign	Het
Rnf112	A	G	11: 61,452,279	L190P	probably damaging	Het
Scn5a	G	T	9: 119,485,612	P2010Q	probably benign	Het
Scn5a	T	C	9: 119,513,085	Y1138C	probably benign	Het
Slc4a9	A	G	18: 36,530,745	H274R	probably benign	Het
Slc5a6	T	G	5: 31,039,335	E391D	possibly damaging	Het
Speer2	T	C	16: 69,858,842	Q32R	possibly damaging	Het
Tars	A	G	15: 11,389,708	V372A	probably benign	Het
Thsd7a	A	T	6: 12,337,268	L1250Q	possibly damaging	Het
Tnnt3	A	G	7: 142,512,564	Y222C	probably benign	Het
Trim40	T	C	17: 36,888,983	I68V	probably benign	Het
Trp53tg5	T	C	2: 164,471,306	I150V	probably benign	Het
Ube2u	T	C	4: 100,532,168	V109A	probably benign	Het
Usp54	A	T	14: 20,561,840	D969E	probably benign	Het
Vil1	G	T	1: 74,425,679	R495L	probably benign	Het
Wfs1	T	A	5: 36,967,220	K700*	probably null	Het
Zcchc8	A	G	5: 123,707,403	L298P	probably damaging	Het
Zfp946	A	T	17: 22,454,716	Q150H	possibly 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
R1879:Hdac9	UTSW	12	34390333	missense	probably damaging	0.98
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
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
R8489:Hdac9	UTSW	12	34437181	missense	probably damaging	1.00
Z1088:Hdac9	UTSW	12	34407789	missense	probably damaging	1.00
Z1176:Hdac9	UTSW	12	34373987	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCTCTGTATATCTAGGAATTGTGTC -3'
(R):5'- GACATAAATGCAGCCGAGGC -3'

Sequencing Primer
(F):5'- ATCTAGGAATTGTGTCTGCATGTGC -3'
(R):5'- CAGCATGGGAAACTGAGTATTTGTG -3'

Posted On

2014-10-15