Mutagenetix > Incidental Mutation

Incidental Mutation 'R2872:Hdac10'

266697

Institutional Source

Beutler Lab

Gene Symbol

Hdac10

Ensembl Gene

ENSMUSG00000062906

Gene Name

histone deacetylase 10

Synonyms

MMRRC Submission

040460-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89007510-89012903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89010059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 300 (Q300K)

Ref Sequence

ENSEMBL: ENSMUSP00000104971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041656] [ENSMUST00000082197] [ENSMUST00000088827] [ENSMUST00000109347] [ENSMUST00000109353]

AlphaFold

Q6P3E7

Predicted Effect

probably benign
Transcript: ENSMUST00000041656

SMART Domains

Protein: ENSMUSP00000040132
Gene: ENSMUSG00000051786

Domain	Start	End	E-Value	Type
Pfam:Spc97_Spc98	355	1667	3.3e-119	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000082197
AA Change: Q350K

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000080832
Gene: ENSMUSG00000062906
AA Change: Q350K

Domain	Start	End	E-Value	Type
Pfam:Hist_deacetyl	13	322	2.1e-85	PFAM
low complexity region	478	489	N/A	INTRINSIC
low complexity region	583	595	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000088827

SMART Domains

Protein: ENSMUSP00000086207
Gene: ENSMUSG00000022610

Domain	Start	End	E-Value	Type
S_TKc	27	311	1.63e-96	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109347
AA Change: Q300K

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104971
Gene: ENSMUSG00000062906
AA Change: Q300K

Domain	Start	End	E-Value	Type
Pfam:Hist_deacetyl	13	251	6.1e-66	PFAM
low complexity region	270	282	N/A	INTRINSIC
low complexity region	398	409	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109353

SMART Domains

Protein: ENSMUSP00000104977
Gene: ENSMUSG00000051786

Domain	Start	End	E-Value	Type
Pfam:Spc97_Spc98	355	1675	2.8e-94	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129398

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143465

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138245

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153195

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230266

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230352

Meta Mutation Damage Score

0.1529

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the histone deacetylase family, members of which deacetylate lysine residues on the N-terminal part of the core histones. Histone deacetylation modulates chromatin structure, and plays an important role in transcriptional regulation, cell cycle progression, and developmental events. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,201,530 (GRCm39)		probably benign	Het
Abca8b	A	G	11: 109,846,002 (GRCm39)	C811R	possibly damaging	Het
Ak8	T	C	2: 28,632,732 (GRCm39)	I317T	possibly damaging	Het
Akr1e1	G	A	13: 4,652,683 (GRCm39)		silent	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Carmil1	G	A	13: 24,229,051 (GRCm39)		silent	Het
Cilk1	A	T	9: 78,047,382 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,606,831 (GRCm39)	F531I	probably damaging	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Ctnnd1	C	T	2: 84,451,232 (GRCm39)	V123I	possibly damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Homo
Gm21759	T	A	5: 8,230,863 (GRCm39)		probably benign	Het
Gm37340	G	A	2: 6,955,739 (GRCm39)		probably benign	Het
Gpr156	T	A	16: 37,812,585 (GRCm39)	V307D	probably damaging	Het
Gpr35	G	A	1: 92,910,848 (GRCm39)	V187I	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Hdhd2	T	C	18: 77,042,702 (GRCm39)	F44L	probably damaging	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Igsf9b	A	G	9: 27,233,519 (GRCm39)	I340V	probably benign	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Homo
Knop1	T	C	7: 118,455,186 (GRCm39)		probably null	Het
Mapk7	C	A	11: 61,381,038 (GRCm39)		probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Myo9b	T	C	8: 71,743,610 (GRCm39)	Y224H	probably benign	Het
Nav1	A	G	1: 135,388,495 (GRCm39)		silent	Het
Ndufs1	A	G	1: 63,203,882 (GRCm39)		probably benign	Het
Nlrc3	T	C	16: 3,775,190 (GRCm39)	D774G	possibly damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nox3	T	C	17: 3,733,191 (GRCm39)	H240R	probably damaging	Het
Nsun2	A	G	13: 69,777,801 (GRCm39)	T425A	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or1o4	A	G	17: 37,590,867 (GRCm39)	V148A	possibly damaging	Het
Or52u1	T	C	7: 104,237,700 (GRCm39)	S230P	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Paqr5	A	T	9: 61,876,061 (GRCm39)		probably null	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pkd1l2	C	T	8: 117,764,903 (GRCm39)	V1332I	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg1	T	G	10: 3,913,982 (GRCm39)	S1235A	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Plxna3	T	A	X: 73,383,002 (GRCm39)		probably benign	Homo
Polg2	A	G	11: 106,666,251 (GRCm39)		probably null	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Homo
Prps1	C	T	X: 139,372,743 (GRCm39)		probably benign	Homo
Rapgef6	T	A	11: 54,552,001 (GRCm39)	F956L	probably damaging	Het
Rasl12	A	G	9: 65,315,605 (GRCm39)	N83S	probably benign	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Sel1l3	C	T	5: 53,295,225 (GRCm39)	W792*	probably null	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc6a9	T	A	4: 117,706,578 (GRCm39)	M1K	probably null	Het
Smpdl3a	T	A	10: 57,678,626 (GRCm39)	F143Y	possibly damaging	Het
Son	A	G	16: 91,461,205 (GRCm39)		probably null	Het
Spsb4	G	T	9: 96,878,071 (GRCm39)	T84K	probably damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Tdpoz3	T	A	3: 93,733,735 (GRCm39)	F137I	probably benign	Het
Tgm7	G	A	2: 120,940,174 (GRCm39)		probably benign	Het
Tmem161a	C	T	8: 70,631,565 (GRCm39)		probably benign	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,068,466 (GRCm39)	Y16*	probably null	Het
Trpa1	A	G	1: 14,957,844 (GRCm39)	C705R	probably damaging	Het
Ttn	A	G	2: 76,581,195 (GRCm39)	S23233P	probably damaging	Het
Uevld	T	C	7: 46,597,693 (GRCm39)	D154G	probably null	Het
Zfp292	G	A	4: 34,808,595 (GRCm39)	T1483M	probably damaging	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	Het

Other mutations in Hdac10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Hdac10	APN	15	89,012,645 (GRCm39)	missense	probably damaging	1.00
IGL01063:Hdac10	APN	15	89,008,071 (GRCm39)	missense	possibly damaging	0.68
IGL01577:Hdac10	APN	15	89,010,416 (GRCm39)	missense	possibly damaging	0.90
IGL01690:Hdac10	APN	15	89,010,194 (GRCm39)	missense	probably benign	0.00
IGL01724:Hdac10	APN	15	89,008,912 (GRCm39)	unclassified	probably benign
IGL01866:Hdac10	APN	15	89,008,736 (GRCm39)	missense	probably damaging	1.00
IGL01989:Hdac10	APN	15	89,009,546 (GRCm39)	missense	probably damaging	1.00
IGL01995:Hdac10	APN	15	89,011,801 (GRCm39)	missense	probably damaging	1.00
IGL02256:Hdac10	APN	15	89,010,097 (GRCm39)	unclassified	probably benign
IGL02668:Hdac10	APN	15	89,009,847 (GRCm39)	missense	probably benign	0.10
R0240:Hdac10	UTSW	15	89,010,085 (GRCm39)	missense	possibly damaging	0.65
R0240:Hdac10	UTSW	15	89,010,085 (GRCm39)	missense	possibly damaging	0.65
R0454:Hdac10	UTSW	15	89,009,961 (GRCm39)	splice site	probably null
R0723:Hdac10	UTSW	15	89,010,621 (GRCm39)	missense	probably damaging	1.00
R0924:Hdac10	UTSW	15	89,010,065 (GRCm39)	missense	probably benign
R1553:Hdac10	UTSW	15	89,009,718 (GRCm39)	missense	possibly damaging	0.51
R1608:Hdac10	UTSW	15	89,009,521 (GRCm39)	missense	probably benign	0.04
R1619:Hdac10	UTSW	15	89,010,878 (GRCm39)	missense	probably damaging	1.00
R1715:Hdac10	UTSW	15	89,010,912 (GRCm39)	splice site	probably null
R2284:Hdac10	UTSW	15	89,011,607 (GRCm39)	missense	probably benign	0.00
R2872:Hdac10	UTSW	15	89,010,059 (GRCm39)	missense	possibly damaging	0.46
R3688:Hdac10	UTSW	15	89,007,767 (GRCm39)	critical splice donor site	probably null
R4283:Hdac10	UTSW	15	89,009,826 (GRCm39)	missense	possibly damaging	0.94
R4604:Hdac10	UTSW	15	89,009,600 (GRCm39)	critical splice acceptor site	probably null
R4654:Hdac10	UTSW	15	89,011,036 (GRCm39)	unclassified	probably benign
R4898:Hdac10	UTSW	15	89,012,650 (GRCm39)	start codon destroyed	probably null	1.00
R4998:Hdac10	UTSW	15	89,008,143 (GRCm39)	missense	possibly damaging	0.94
R5393:Hdac10	UTSW	15	89,010,887 (GRCm39)	missense	probably damaging	1.00
R5769:Hdac10	UTSW	15	89,007,819 (GRCm39)	missense	probably benign	0.00
R5785:Hdac10	UTSW	15	89,011,148 (GRCm39)	missense	probably benign
R6992:Hdac10	UTSW	15	89,009,534 (GRCm39)	missense	probably benign	0.01
R7149:Hdac10	UTSW	15	89,011,652 (GRCm39)	missense	probably damaging	1.00
R7237:Hdac10	UTSW	15	89,009,580 (GRCm39)	missense	probably benign
R7276:Hdac10	UTSW	15	89,012,488 (GRCm39)	missense	probably benign	0.01
R7395:Hdac10	UTSW	15	89,012,487 (GRCm39)	missense	probably benign	0.14
R9294:Hdac10	UTSW	15	89,010,480 (GRCm39)	missense	probably damaging	1.00
R9684:Hdac10	UTSW	15	89,011,402 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTGAATCCTCTGCTACTGC -3'
(R):5'- ACAGTCAGTGTGCATGATGGTG -3'

Sequencing Primer
(F):5'- AGTGAATCCTCTGCTACTGCACATG -3'
(R):5'- GCATGATGGTGCAGACACTG -3'

Posted On

2015-02-18