Mutagenetix > Incidental Mutation

Incidental Mutation 'R0432:Hdac9'

38856

Institutional Source

Beutler Lab

Gene Symbol

Hdac9

Ensembl Gene

ENSMUSG00000004698

Gene Name

histone deacetylase 9

Synonyms

HDRP, Mitr, Hdac7b, D030072B18Rik

MMRRC Submission

038634-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34097579-34967094 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34487221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 60 (Q60R)

Ref Sequence

ENSEMBL: ENSMUSP00000147903 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000110819
AA Change: Q60R

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

SMART Domains

Protein: ENSMUSP00000106443
Gene: ENSMUSG00000004698
AA Change: Q60R

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

possibly damaging
Transcript: ENSMUST00000209463
AA Change: Q60R

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000209667
AA Change: Q60R

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209750
AA Change: Q60R

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209902
AA Change: Q60R

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209990
AA Change: Q60R

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210724
AA Change: Q60R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211107
AA Change: Q29R

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211752
AA Change: Q81R

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211632

Meta Mutation Damage Score

0.0976

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

99% (91/92)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	A	G	17: 36,206,708 (GRCm39)	L110P	probably damaging	Het
4930522L14Rik	A	T	5: 109,884,785 (GRCm39)	C358S	probably damaging	Het
Abca8b	C	A	11: 109,870,841 (GRCm39)	V104F	possibly damaging	Het
Afap1l2	T	C	19: 56,905,551 (GRCm39)		probably benign	Het
Ahctf1	A	C	1: 179,611,726 (GRCm39)	I548R	probably damaging	Het
Alox12b	G	T	11: 69,060,382 (GRCm39)	G646V	probably damaging	Het
Aoah	C	T	13: 21,095,368 (GRCm39)		probably benign	Het
Arhgap39	C	T	15: 76,619,086 (GRCm39)	D833N	probably damaging	Het
Atxn1l	A	G	8: 110,458,325 (GRCm39)	W646R	probably damaging	Het
Cabp2	T	C	19: 4,134,903 (GRCm39)	I28T	possibly damaging	Het
Cacna1b	G	A	2: 24,577,716 (GRCm39)	T719I	probably damaging	Het
Camk1d	A	T	2: 5,449,946 (GRCm39)	H70Q	probably damaging	Het
Car1	T	C	3: 14,835,236 (GRCm39)	T170A	probably benign	Het
Ccdc162	T	C	10: 41,417,856 (GRCm39)	T2113A	probably benign	Het
Cdc5l	G	A	17: 45,726,610 (GRCm39)	R321W	probably damaging	Het
Cdh17	T	A	4: 11,771,273 (GRCm39)	C18*	probably null	Het
Cdk17	A	T	10: 93,073,652 (GRCm39)		probably benign	Het
Chd9	T	A	8: 91,721,078 (GRCm39)		probably benign	Het
Chrm5	T	A	2: 112,310,000 (GRCm39)	K372M	possibly damaging	Het
Clasp2	A	G	9: 113,738,487 (GRCm39)	T423A	probably benign	Het
Col11a1	A	G	3: 113,999,550 (GRCm39)		probably benign	Het
Col27a1	T	C	4: 63,143,848 (GRCm39)	M512T	possibly damaging	Het
Dclk3	A	G	9: 111,314,003 (GRCm39)	D693G	probably damaging	Het
Dcun1d3	T	A	7: 119,457,173 (GRCm39)	K180*	probably null	Het
Dmxl2	T	C	9: 54,324,235 (GRCm39)	R876G	probably benign	Het
Dnmbp	A	T	19: 43,843,296 (GRCm39)	Y432*	probably null	Het
Elapor2	G	T	5: 9,490,966 (GRCm39)	G659*	probably null	Het
Eml2	C	T	7: 18,913,456 (GRCm39)	Q125*	probably null	Het
Faap100	A	C	11: 120,264,702 (GRCm39)		probably benign	Het
Foxp2	T	C	6: 15,254,278 (GRCm39)		probably benign	Het
Gda	A	G	19: 21,394,471 (GRCm39)	Y129H	probably damaging	Het
Gga3	G	A	11: 115,481,350 (GRCm39)	R207C	probably damaging	Het
Glg1	T	C	8: 111,909,201 (GRCm39)	I496M	probably damaging	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Gm10322	A	T	10: 59,452,030 (GRCm39)	H49L	possibly damaging	Het
Golga5	G	T	12: 102,442,467 (GRCm39)	V269F	possibly damaging	Het
Gramd2b	G	A	18: 56,607,141 (GRCm39)	C85Y	probably benign	Het
Grhl1	C	T	12: 24,632,918 (GRCm39)	P153L	probably benign	Het
Hdlbp	T	C	1: 93,353,054 (GRCm39)	I414V	probably damaging	Het
Itpk1	C	T	12: 102,572,337 (GRCm39)		probably benign	Het
Itsn1	T	A	16: 91,612,408 (GRCm39)	Y266N	probably damaging	Het
Lipe	G	A	7: 25,097,913 (GRCm39)	P10L	probably benign	Het
Lrrc8a	A	G	2: 30,147,079 (GRCm39)	E631G	probably damaging	Het
Lvrn	T	A	18: 47,038,366 (GRCm39)	N973K	possibly damaging	Het
Man2c1	T	A	9: 57,042,881 (GRCm39)	H250Q	probably damaging	Het
Mup3	T	C	4: 62,003,519 (GRCm39)	T117A	probably benign	Het
Myo6	A	C	9: 80,181,256 (GRCm39)		probably benign	Het
Nbn	T	A	4: 15,983,951 (GRCm39)		probably benign	Het
Ncapg	T	A	5: 45,829,770 (GRCm39)	N157K	probably damaging	Het
Or4p7	C	T	2: 88,222,377 (GRCm39)	T262I	probably damaging	Het
Or5an1	T	A	19: 12,261,267 (GRCm39)	M285K	probably damaging	Het
Or5m12	T	A	2: 85,734,501 (GRCm39)	N299I	probably damaging	Het
Or5w14	G	A	2: 87,541,774 (GRCm39)	H159Y	probably benign	Het
Or9m1	T	C	2: 87,733,304 (GRCm39)	T239A	probably damaging	Het
P4ha1	T	A	10: 59,184,079 (GRCm39)	Y180*	probably null	Het
Pcdhb19	T	A	18: 37,632,588 (GRCm39)	F794L	probably benign	Het
Pdxdc1	T	A	16: 13,672,264 (GRCm39)	I379F	probably damaging	Het
Psme3	T	A	11: 101,211,268 (GRCm39)	S185T	possibly damaging	Het
Ptgr1	A	G	4: 58,978,045 (GRCm39)	S116P	probably damaging	Het
Ptpn23	A	T	9: 110,218,078 (GRCm39)		probably null	Het
Rabgap1l	A	C	1: 160,549,775 (GRCm39)	I277R	probably benign	Het
Rapgef1	C	T	2: 29,569,828 (GRCm39)	T93I	possibly damaging	Het
Rbp3	A	T	14: 33,676,730 (GRCm39)	D226V	probably damaging	Het
Rnf144a	A	T	12: 26,389,328 (GRCm39)	C38S	probably damaging	Het
Rptor	C	T	11: 119,671,379 (GRCm39)	Q281*	probably null	Het
Rragd	T	C	4: 33,004,332 (GRCm39)	L208S	probably damaging	Het
Slc12a4	T	C	8: 106,686,120 (GRCm39)	E41G	probably damaging	Het
Slc16a1	G	T	3: 104,560,735 (GRCm39)	V347F	probably benign	Het
Slit1	G	A	19: 41,731,732 (GRCm39)	T39I	probably damaging	Het
Sra1	T	C	18: 36,810,556 (GRCm39)	N98S	probably benign	Het
Ssx2ip	T	C	3: 146,132,184 (GRCm39)	L215P	probably damaging	Het
Syne2	A	T	12: 75,995,838 (GRCm39)	H2126L	probably damaging	Het
Tep1	TTTCTTCTTCTT	TTTCTTCTT	14: 51,104,280 (GRCm39)		probably benign	Het
Tgfbi	T	C	13: 56,780,004 (GRCm39)		probably benign	Het
Tmem232	T	C	17: 65,563,498 (GRCm39)	M632V	probably damaging	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tnnt3	T	G	7: 142,065,823 (GRCm39)	D153E	probably benign	Het
Tnrc6b	T	A	15: 80,807,647 (GRCm39)		probably benign	Het
Tpsab1	A	G	17: 25,562,798 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,351,505 (GRCm39)	V1431D	probably damaging	Het
Wdr49	G	T	3: 75,357,329 (GRCm39)	R285S	possibly damaging	Het
Wdr7	A	G	18: 63,929,320 (GRCm39)	Y1052C	probably damaging	Het
Zan	A	T	5: 137,380,578 (GRCm39)		probably benign	Het
Zfp652	G	A	11: 95,654,565 (GRCm39)	V323I	possibly damaging	Het
Zfp740	A	G	15: 102,121,094 (GRCm39)	T136A	possibly damaging	Het
Zfp82	C	T	7: 29,755,754 (GRCm39)	E443K	probably damaging	Het
Zfp874b	A	G	13: 67,629,955 (GRCm39)	S10P	probably damaging	Het
Zmynd19	A	G	2: 24,848,134 (GRCm39)	Y110C	probably benign	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
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
R7768:Hdac9	UTSW	12	34,440,239 (GRCm39)	missense	possibly damaging	0.81
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'- AGTATGGACCTGCCCAGTCTTGTG -3'
(R):5'- CTCCAGTGGACGTGAAATCAGAGG -3'

Sequencing Primer
(F):5'- CTTGGTGGTAACTATACAGGCAC -3'
(R):5'- ACGTGAAATCAGAGGTTCCTATG -3'

Posted On

2013-05-23