Mutagenetix > Incidental Mutation

Incidental Mutation 'R7768:Hdac9'

598408

Institutional Source

Beutler Lab

Gene Symbol

Hdac9

Ensembl Gene

ENSMUSG00000004698

Gene Name

histone deacetylase 9

Synonyms

HDRP, Mitr, Hdac7b, D030072B18Rik

MMRRC Submission

045824-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7768 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34097579-34967094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34440239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 380 (H380R)

Ref Sequence

ENSEMBL: ENSMUSP00000106443 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110819
AA Change: H380R

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106443
Gene: ENSMUSG00000004698
AA Change: H380R

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 damaging
Transcript: ENSMUST00000209667
AA Change: H336R

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209750
AA Change: H383R

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209902
AA Change: H380R

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209990
AA Change: H339R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210724
AA Change: H380R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211107
AA Change: H352R

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211752
AA Change: H404R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	A	G	13: 12,297,480 (GRCm39)	V479A	possibly damaging	Het
Acy1	G	A	9: 106,310,817 (GRCm39)	T317M	possibly damaging	Het
Adgrg6	A	T	10: 14,307,410 (GRCm39)	D797E	probably benign	Het
Ank1	C	T	8: 23,588,013 (GRCm39)	A552V	probably benign	Het
Ankrd13c	A	G	3: 157,694,284 (GRCm39)	T262A	probably benign	Het
Ap4e1	A	T	2: 126,888,854 (GRCm39)	N468Y	probably damaging	Het
Apbb1	T	C	7: 105,216,295 (GRCm39)	I367V	probably benign	Het
Arl6	A	G	16: 59,452,699 (GRCm39)	I33T	probably damaging	Het
Asgr2	T	C	11: 69,996,242 (GRCm39)	I228T	probably damaging	Het
Aspn	A	G	13: 49,710,871 (GRCm39)	H172R	probably damaging	Het
Bclaf1	T	A	10: 20,215,517 (GRCm39)	F868L	probably benign	Het
Cacna1i	G	A	15: 80,265,389 (GRCm39)	R1547H	probably damaging	Het
Celsr1	G	T	15: 85,816,610 (GRCm39)	Q1778K	probably benign	Het
Cep250	T	C	2: 155,827,929 (GRCm39)	L42S		Het
Clnk	C	A	5: 38,925,501 (GRCm39)	R100L	probably damaging	Het
Cpvl	A	G	6: 53,873,476 (GRCm39)	V420A	possibly damaging	Het
Dicer1	C	A	12: 104,672,956 (GRCm39)	G825V	probably damaging	Het
Dmxl2	T	C	9: 54,288,223 (GRCm39)	Y2628C	probably damaging	Het
Dnah7b	T	A	1: 46,176,634 (GRCm39)	H751Q	probably benign	Het
Dnhd1	C	A	7: 105,370,302 (GRCm39)	R4576S	possibly damaging	Het
Dzip1	A	T	14: 119,116,910 (GRCm39)	D775E	probably benign	Het
Erich3	T	A	3: 154,453,968 (GRCm39)	M381K	probably benign	Het
Fam193a	A	G	5: 34,623,135 (GRCm39)	D1241G	possibly damaging	Het
Gbx2	A	G	1: 89,856,706 (GRCm39)	L228P	probably benign	Het
Ggt7	A	T	2: 155,348,421 (GRCm39)	M77K	possibly damaging	Het
Gpr26	T	A	7: 131,576,077 (GRCm39)	I247K	probably damaging	Het
Grip1	A	G	10: 119,874,302 (GRCm39)	T745A	probably damaging	Het
Gusb	A	T	5: 130,029,246 (GRCm39)	H178Q	probably benign	Het
Hacl1	T	C	14: 31,338,437 (GRCm39)	Y380C	probably damaging	Het
Icam4	T	A	9: 20,941,290 (GRCm39)	L143Q	probably damaging	Het
Ikbkb	T	A	8: 23,185,252 (GRCm39)	I43F	probably damaging	Het
Ints11	G	T	4: 155,971,396 (GRCm39)	K303N	probably damaging	Het
Itpa	A	T	2: 130,509,836 (GRCm39)	N16I	probably damaging	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kat6a	T	A	8: 23,393,228 (GRCm39)	N235K	probably damaging	Het
Kmt2a	C	T	9: 44,731,900 (GRCm39)	V2806I	unknown	Het
Loxhd1	T	A	18: 77,472,637 (GRCm39)	F1051L	probably damaging	Het
Map2	A	G	1: 66,453,642 (GRCm39)	E844G	possibly damaging	Het
Mmp7	T	A	9: 7,697,749 (GRCm39)	Y261*	probably null	Het
Muc4	A	C	16: 32,576,568 (GRCm39)	M2023L	unknown	Het
Mybpc1	C	A	10: 88,378,234 (GRCm39)	G688V	probably damaging	Het
Myo3a	A	G	2: 22,245,954 (GRCm39)	T34A	probably damaging	Het
Nrxn2	A	G	19: 6,531,409 (GRCm39)	T683A	possibly damaging	Het
Nup160	A	G	2: 90,530,460 (GRCm39)	I444V	probably damaging	Het
Or2t29	A	T	11: 58,433,466 (GRCm39)	S292T	probably damaging	Het
Or2t29	A	T	11: 58,433,693 (GRCm39)	M216K	possibly damaging	Het
Or4f4-ps1	A	C	2: 111,330,198 (GRCm39)	K200N	possibly damaging	Het
Or8w1	T	C	2: 87,465,657 (GRCm39)	M145V	probably benign	Het
Pcdha1	A	G	18: 37,065,220 (GRCm39)	E628G	probably damaging	Het
Pcdha12	T	C	18: 37,155,404 (GRCm39)	S708P	probably damaging	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Pkd1l2	A	G	8: 117,781,599 (GRCm39)		probably null	Het
Pla2g6	T	C	15: 79,181,514 (GRCm39)	D577G	probably damaging	Het
Pla2r1	G	T	2: 60,279,290 (GRCm39)	D763E	probably benign	Het
Pramel18	A	C	4: 101,769,010 (GRCm39)	I454L	probably benign	Het
Psg18	A	T	7: 18,079,953 (GRCm39)	I416N	probably damaging	Het
Rapgef6	G	T	11: 54,517,414 (GRCm39)	V369F	probably damaging	Het
Rasal3	T	C	17: 32,615,767 (GRCm39)	E357G	probably damaging	Het
Rhbdl3	G	A	11: 80,221,447 (GRCm39)	R195Q	probably benign	Het
Rnf216	A	T	5: 143,084,199 (GRCm39)	M1K	probably null	Het
Rspry1	C	A	8: 95,356,469 (GRCm39)	D165E	probably damaging	Het
Rwdd2b	G	A	16: 87,233,633 (GRCm39)	L156F	probably benign	Het
Scn11a	T	A	9: 119,644,338 (GRCm39)	I141F	probably benign	Het
Sirt2	A	T	7: 28,482,284 (GRCm39)	T198S	probably benign	Het
Slc2a1	A	G	4: 118,989,644 (GRCm39)	N94D	probably damaging	Het
Slc33a1	A	G	3: 63,855,039 (GRCm39)	F407S	possibly damaging	Het
Slc38a4	A	C	15: 96,906,545 (GRCm39)	L356R	probably damaging	Het
Slc43a1	T	A	2: 84,687,215 (GRCm39)	L372Q	probably damaging	Het
Slc6a6	T	A	6: 91,716,946 (GRCm39)	I274N	probably damaging	Het
Smchd1	C	T	17: 71,718,906 (GRCm39)	G821D	probably damaging	Het
Spata33	T	C	8: 123,941,146 (GRCm39)	F65S	unknown	Het
Spmip5	A	T	19: 58,781,174 (GRCm39)	Y25N	probably damaging	Het
Stx19	A	G	16: 62,642,567 (GRCm39)	T128A	probably benign	Het
Tas2r103	T	C	6: 133,013,812 (GRCm39)	M85V	probably benign	Het
Tas2r117	C	T	6: 132,780,485 (GRCm39)	L208F	probably damaging	Het
Tcirg1	A	T	19: 3,952,900 (GRCm39)	I233N	possibly damaging	Het
Uba6	C	A	5: 86,300,779 (GRCm39)	W192L	probably benign	Het
Ube3a	T	C	7: 58,938,525 (GRCm39)	I761T	probably damaging	Het
Unc80	T	C	1: 66,549,754 (GRCm39)	S671P	possibly damaging	Het
Usp8	A	G	2: 126,593,043 (GRCm39)	Q766R	probably damaging	Het
Vmn2r103	A	G	17: 20,032,314 (GRCm39)	N696S	probably damaging	Het
Vmn2r14	G	A	5: 109,368,086 (GRCm39)	T302I	probably benign	Het
Vmn2r50	G	A	7: 9,771,298 (GRCm39)	A801V	probably damaging	Het
Vmn2r85	T	G	10: 130,254,562 (GRCm39)	Q707H	probably damaging	Het
Wsb2	G	A	5: 117,501,787 (GRCm39)	V51M	probably benign	Het
Xdh	T	C	17: 74,246,831 (GRCm39)	T78A	probably benign	Het
Zfp442	T	C	2: 150,250,241 (GRCm39)	K554E	possibly damaging	Het

Other mutations in Hdac9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01317:Hdac9	APN	12	34,479,488 (GRCm39)	splice site	probably benign
IGL01484:Hdac9	APN	12	34,487,164 (GRCm39)	missense	probably damaging	1.00
IGL02010:Hdac9	APN	12	34,481,944 (GRCm39)	missense	probably damaging	1.00
IGL02059:Hdac9	APN	12	34,481,967 (GRCm39)	missense	probably damaging	0.97
IGL02276:Hdac9	APN	12	34,481,925 (GRCm39)	missense	probably damaging	1.00
IGL02797:Hdac9	APN	12	34,443,273 (GRCm39)	splice site	probably benign
IGL03202:Hdac9	APN	12	34,423,950 (GRCm39)	missense	probably damaging	1.00
PIT4468001:Hdac9	UTSW	12	34,145,933 (GRCm39)	missense	unknown
R0304:Hdac9	UTSW	12	34,424,110 (GRCm39)	missense	probably damaging	1.00
R0432:Hdac9	UTSW	12	34,487,221 (GRCm39)	missense	probably damaging	1.00
R0659:Hdac9	UTSW	12	34,487,221 (GRCm39)	missense	probably damaging	1.00
R1826:Hdac9	UTSW	12	34,479,491 (GRCm39)	splice site	probably benign
R1879:Hdac9	UTSW	12	34,440,332 (GRCm39)	missense	probably damaging	0.98
R1942:Hdac9	UTSW	12	34,479,544 (GRCm39)	missense	probably damaging	1.00
R2113:Hdac9	UTSW	12	34,439,331 (GRCm39)	missense	probably damaging	1.00
R2151:Hdac9	UTSW	12	34,440,255 (GRCm39)	missense	probably damaging	1.00
R2216:Hdac9	UTSW	12	34,479,516 (GRCm39)	missense	probably damaging	1.00
R2224:Hdac9	UTSW	12	34,457,801 (GRCm39)	missense	probably benign	0.09
R2225:Hdac9	UTSW	12	34,457,801 (GRCm39)	missense	probably benign	0.09
R2227:Hdac9	UTSW	12	34,457,801 (GRCm39)	missense	probably benign	0.09
R3500:Hdac9	UTSW	12	34,487,352 (GRCm39)	missense	probably benign	0.01
R4441:Hdac9	UTSW	12	34,439,375 (GRCm39)	missense	probably damaging	1.00
R4674:Hdac9	UTSW	12	34,423,959 (GRCm39)	missense	possibly damaging	0.96
R4694:Hdac9	UTSW	12	34,487,246 (GRCm39)	missense	probably damaging	1.00
R5033:Hdac9	UTSW	12	34,423,906 (GRCm39)	missense	probably benign
R5229:Hdac9	UTSW	12	34,487,163 (GRCm39)	missense	probably damaging	1.00
R5353:Hdac9	UTSW	12	34,443,392 (GRCm39)	nonsense	probably null
R5384:Hdac9	UTSW	12	34,479,557 (GRCm39)	missense	probably damaging	1.00
R5958:Hdac9	UTSW	12	34,423,882 (GRCm39)	missense	probably damaging	0.97
R6129:Hdac9	UTSW	12	34,337,474 (GRCm39)	missense	probably damaging	1.00
R6157:Hdac9	UTSW	12	34,439,428 (GRCm39)	missense	probably damaging	1.00
R6248:Hdac9	UTSW	12	34,578,293 (GRCm39)	missense	possibly damaging	0.79
R6333:Hdac9	UTSW	12	34,102,323 (GRCm39)	missense	probably damaging	0.98
R6474:Hdac9	UTSW	12	34,481,990 (GRCm39)	critical splice acceptor site	probably null
R6589:Hdac9	UTSW	12	34,265,028 (GRCm39)	missense	probably damaging	1.00
R6737:Hdac9	UTSW	12	34,265,451 (GRCm39)	missense	probably damaging	1.00
R6767:Hdac9	UTSW	12	34,337,528 (GRCm39)	missense	probably damaging	1.00
R6837:Hdac9	UTSW	12	34,337,463 (GRCm39)	missense	probably benign	0.12
R6857:Hdac9	UTSW	12	34,443,362 (GRCm39)	missense	probably benign	0.37
R7069:Hdac9	UTSW	12	34,479,548 (GRCm39)	missense	possibly damaging	0.92
R7237:Hdac9	UTSW	12	34,424,139 (GRCm39)	critical splice acceptor site	probably null
R7917:Hdac9	UTSW	12	34,483,209 (GRCm39)	missense	probably benign	0.31
R7974:Hdac9	UTSW	12	34,353,219 (GRCm39)	missense	possibly damaging	0.87
R7990:Hdac9	UTSW	12	34,265,452 (GRCm39)	missense	probably benign	0.05
R8489:Hdac9	UTSW	12	34,487,180 (GRCm39)	missense	probably damaging	1.00
R8683:Hdac9	UTSW	12	34,440,220 (GRCm39)	missense	probably damaging	1.00
R9208:Hdac9	UTSW	12	34,220,101 (GRCm39)	missense	probably benign	0.01
R9397:Hdac9	UTSW	12	34,353,275 (GRCm39)	missense	probably damaging	0.99
R9431:Hdac9	UTSW	12	34,440,327 (GRCm39)	nonsense	probably null
R9629:Hdac9	UTSW	12	34,439,389 (GRCm39)	missense	probably damaging	0.99
R9646:Hdac9	UTSW	12	34,487,167 (GRCm39)	missense	probably damaging	1.00
R9709:Hdac9	UTSW	12	34,362,602 (GRCm39)	missense	probably benign	0.21
Z1088:Hdac9	UTSW	12	34,457,788 (GRCm39)	missense	probably damaging	1.00
Z1176:Hdac9	UTSW	12	34,423,986 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTCCCAAAGTGCCAAAAGTTTG -3'
(R):5'- ATAATAACGAGAGCCCTAGCACTG -3'

Sequencing Primer
(F):5'- TGGCACTTGTACAACATCAGG -3'
(R):5'- CCCTAGCACTGACGTGGATAAG -3'

Posted On

2019-11-26