Mutagenetix > Incidental Mutation

Incidental Mutation 'R6992:Hdac10'

543931

Institutional Source

Beutler Lab

Gene Symbol

Hdac10

Ensembl Gene

ENSMUSG00000062906

Gene Name

histone deacetylase 10

Synonyms

MMRRC Submission

045098-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6992 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89007510-89012903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89009534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 466 (D466G)

Ref Sequence

ENSEMBL: ENSMUSP00000080832 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041656] [ENSMUST00000082197] [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: D466G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000080832
Gene: ENSMUSG00000062906
AA Change: D466G

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: ENSMUST00000109347

SMART Domains

Protein: ENSMUSP00000104971
Gene: ENSMUSG00000062906

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (64/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,099,990 (GRCm39)	S171N	possibly damaging	Het
6030468B19Rik	T	G	11: 117,688,594 (GRCm39)	M1R	probably null	Het
A730049H05Rik	T	C	6: 92,804,975 (GRCm39)		probably benign	Het
AC125199.3	G	T	16: 88,608,915 (GRCm39)	H52Q	possibly damaging	Het
Adam34	A	T	8: 44,105,642 (GRCm39)	M1K	probably null	Het
Adgrf5	T	C	17: 43,763,214 (GRCm39)		probably null	Het
Antxr2	T	C	5: 98,108,564 (GRCm39)	T316A	probably benign	Het
Cc2d1a	A	T	8: 84,861,542 (GRCm39)	V714D	probably damaging	Het
Cd96	A	G	16: 45,870,087 (GRCm39)	S461P	possibly damaging	Het
Cdc16	C	A	8: 13,809,188 (GRCm39)	A51E	probably benign	Het
Chd4	T	A	6: 125,091,339 (GRCm39)	D1243E	probably benign	Het
Cntf	A	T	19: 12,742,697 (GRCm39)	I21N	probably damaging	Het
Col11a2	C	T	17: 34,266,118 (GRCm39)	A282V	probably benign	Het
Col14a1	T	A	15: 55,274,958 (GRCm39)		probably null	Het
Cyp2b9	T	C	7: 25,900,564 (GRCm39)	Y401H	probably benign	Het
Dlgap4	A	G	2: 156,590,860 (GRCm39)		probably null	Het
Fancd2	T	C	6: 113,547,979 (GRCm39)		probably null	Het
Fcgbpl1	T	A	7: 27,839,608 (GRCm39)	F474I	probably benign	Het
Frem1	A	G	4: 82,858,599 (GRCm39)	V1622A	possibly damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,797,390 (GRCm39)		probably benign	Het
Gstm4	A	G	3: 107,951,981 (GRCm39)	M3T	possibly damaging	Het
Hook2	A	G	8: 85,729,185 (GRCm39)	E625G	probably damaging	Het
Hspbp1	G	C	7: 4,667,714 (GRCm39)	P260A	probably benign	Het
Igdcc3	C	A	9: 65,088,853 (GRCm39)	Q411K	probably damaging	Het
Il18rap	G	A	1: 40,581,195 (GRCm39)	E356K	probably benign	Het
Inpp4a	A	T	1: 37,428,772 (GRCm39)	M699L	probably damaging	Het
Klhdc1	A	G	12: 69,300,531 (GRCm39)	H157R	probably damaging	Het
Klhl6	G	T	16: 19,772,337 (GRCm39)	T336N	probably damaging	Het
Marchf7	T	C	2: 60,059,428 (GRCm39)		probably null	Het
Mast4	C	T	13: 102,941,155 (GRCm39)	V301I	probably damaging	Het
Mlh3	T	A	12: 85,282,494 (GRCm39)	N1412Y	probably damaging	Het
Mrps27	A	G	13: 99,541,522 (GRCm39)	M209V	probably benign	Het
Mtor	A	T	4: 148,548,932 (GRCm39)	T572S	probably benign	Het
Neurog1	T	C	13: 56,399,363 (GRCm39)	K128R	probably damaging	Het
Or10g6	T	A	9: 39,933,896 (GRCm39)	L69*	probably null	Het
Or2b4	T	A	17: 38,116,754 (GRCm39)	N239K	probably damaging	Het
Or5b122	A	G	19: 13,562,811 (GRCm39)	I48V	possibly damaging	Het
Pcdhgb1	A	G	18: 37,814,652 (GRCm39)	K381R	probably benign	Het
Pdzd2	T	C	15: 12,457,945 (GRCm39)	D306G	probably damaging	Het
Plekha5	C	T	6: 140,489,634 (GRCm39)	T237I	probably damaging	Het
Plscr1l1	T	C	9: 92,236,725 (GRCm39)	M128T	probably benign	Het
Pole	A	T	5: 110,480,365 (GRCm39)	I103F	probably damaging	Het
Ppfia2	A	T	10: 106,310,715 (GRCm39)	Q74L	possibly damaging	Het
Ppm1d	T	C	11: 85,223,178 (GRCm39)	F261S	probably damaging	Het
Psg21	A	T	7: 18,388,668 (GRCm39)		probably null	Het
Ptprg	T	A	14: 11,962,602 (GRCm38)	F133L	probably damaging	Het
Rom1	G	A	19: 8,906,569 (GRCm39)		probably benign	Het
Rtn3	A	G	19: 7,412,489 (GRCm39)	F762L	probably damaging	Het
Sec23ip	T	C	7: 128,367,164 (GRCm39)	S600P	probably benign	Het
Sema4b	T	A	7: 79,869,900 (GRCm39)	I396N	probably damaging	Het
Serpina3k	T	A	12: 104,307,366 (GRCm39)	D199E	probably benign	Het
Slc19a1	A	G	10: 76,885,540 (GRCm39)	D480G	possibly damaging	Het
Slc8b1	G	A	5: 120,665,880 (GRCm39)	V404M	probably damaging	Het
Slco1a4	T	C	6: 141,765,330 (GRCm39)	D304G	probably benign	Het
Smpdl3b	G	T	4: 132,472,452 (GRCm39)	A107D	possibly damaging	Het
Tesk1	A	G	4: 43,447,006 (GRCm39)	T465A	probably benign	Het
Tmem245	A	G	4: 56,937,940 (GRCm39)	F203L	probably benign	Het
Tnip1	T	A	11: 54,809,542 (GRCm39)	I442F	probably benign	Het
Txnip	A	G	3: 96,466,439 (GRCm39)	K127R	possibly damaging	Het
Usp32	A	C	11: 84,922,914 (GRCm39)	L172R	probably damaging	Het
Vmn2r66	A	G	7: 84,654,436 (GRCm39)	S508P	possibly damaging	Het
Vwa5b2	T	A	16: 20,416,952 (GRCm39)	Y550N	probably damaging	Het
Wdr81	G	A	11: 75,342,612 (GRCm39)	A885V	probably benign	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
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
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'- CTGGTCTTTTCCAAATGGCTG -3'
(R):5'- TGCTCCATCAAGAAGGGTCAG -3'

Sequencing Primer
(F):5'- CATTACAGATGGTTGTGAGCCACC -3'
(R):5'- CTCCATCAAGAAGGGTCAGTCTTG -3'

Posted On

2019-05-13