Mutagenetix > Incidental Mutation

Incidental Mutation 'R7286:Nat10'

565980

Institutional Source

Beutler Lab

Gene Symbol

Nat10

Ensembl Gene

ENSMUSG00000027185

Gene Name

N-acetyltransferase 10

Synonyms

MMRRC Submission

045394-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7286 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103721256-103761270 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103754169 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 88 (K88E)

Ref Sequence

ENSEMBL: ENSMUSP00000028608 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028608] [ENSMUST00000140895] [ENSMUST00000148798]

AlphaFold

Q8K224

Predicted Effect

probably benign
Transcript: ENSMUST00000028608
AA Change: K88E

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000028608
Gene: ENSMUSG00000027185
AA Change: K88E

Domain	Start	End	E-Value	Type
Pfam:DUF1726	107	201	6.9e-39	PFAM
low complexity region	226	242	N/A	INTRINSIC
Pfam:Helicase_RecD	281	488	1.3e-68	PFAM
Pfam:GNAT_acetyltr_2	528	753	7e-103	PFAM
Pfam:tRNA_bind_2	771	892	3.6e-46	PFAM
low complexity region	999	1024	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140895
AA Change: K88E

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000115072
Gene: ENSMUSG00000027185
AA Change: K88E

Domain	Start	End	E-Value	Type
Pfam:DUF1726	107	186	1.2e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148798

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an RNA cytidine acetyltransferase involved in histone acetylation, tRNA acetylation, the biosynthesis of 18S rRNA, and the enhancement of nuclear architecture and chromatin organization. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,622,479	C130S	probably benign	Het
4921501E09Rik	T	C	17: 33,065,527	D767G	probably benign	Het
4930550C14Rik	A	T	9: 53,423,017	M187L	possibly damaging	Het
9930012K11Rik	T	C	14: 70,157,237	E156G	possibly damaging	Het
Acad9	C	T	3: 36,075,990	A194V	probably damaging	Het
Agps	T	A	2: 75,852,784	V151E	probably benign	Het
Ak9	A	T	10: 41,407,371	I1273L		Het
Akr1c19	T	A	13: 4,246,819	L288Q	probably damaging	Het
Carmil1	T	G	13: 24,013,394	D1353A	probably damaging	Het
Ccz1	T	A	5: 144,013,079	I43F	probably damaging	Het
Cep70	G	A	9: 99,275,585	C179Y	probably damaging	Het
Comt	A	T	16: 18,410,690	L196H	probably damaging	Het
Cspg5	A	T	9: 110,246,955	D253V	probably damaging	Het
Dars2	A	G	1: 161,046,808	V437A	possibly damaging	Het
Dcaf5	A	G	12: 80,348,390	I335T	probably damaging	Het
Ddn	T	C	15: 98,806,025	K462R	possibly damaging	Het
Dscaml1	T	C	9: 45,742,746		probably null	Het
Ethe1	A	G	7: 24,607,952	Y197C	probably damaging	Het
Evc	A	T	5: 37,322,183	L269*	probably null	Het
Fam161a	T	C	11: 23,020,001	S60P	possibly damaging	Het
Fam20b	A	G	1: 156,681,442	V400A	probably benign	Het
Fam53b	T	A	7: 132,759,661	S213C	possibly damaging	Het
Flot2	A	G	11: 78,054,786	I45V	probably benign	Het
Gemin4	A	C	11: 76,212,753	L394R	probably damaging	Het
Glis2	T	G	16: 4,611,318	S128R	possibly damaging	Het
Gm3696	A	G	14: 7,089,808	Y92H	probably damaging	Het
Gm49333	T	C	16: 20,632,591	S325P	probably benign	Het
Gpbp1l1	T	C	4: 116,590,245	V374A	probably benign	Het
Grm1	T	C	10: 10,689,696	N956S	probably benign	Het
Hbb-bh1	T	C	7: 103,843,031	E27G	probably damaging	Het
Hmcn1	A	T	1: 150,582,337	C5233S	probably damaging	Het
Hmgcr	C	T	13: 96,666,597	C30Y	probably damaging	Het
Hoxb6	A	G	11: 96,292,825		probably benign	Het
Igf2	T	C	7: 142,655,818	Q35R	possibly damaging	Het
Ighv1-4	C	T	12: 114,487,321	V56I	probably benign	Het
Kif13a	C	T	13: 46,752,455	V671M	possibly damaging	Het
Lmtk2	C	T	5: 144,174,360	Q633*	probably null	Het
Mesd	T	C	7: 83,895,749	Y136H	probably damaging	Het
Mga	T	A	2: 119,964,788	S2984R	possibly damaging	Het
Mkrn3	T	C	7: 62,418,927	N372S	probably benign	Het
Mtpap	A	G	18: 4,387,068	I373V	probably benign	Het
Mycbp2	G	A	14: 103,120,591	T4589M	probably damaging	Het
Myh2	A	G	11: 67,188,369	Q921R	probably benign	Het
Myom1	A	G	17: 71,045,549	D324G	possibly damaging	Het
Ncapd3	A	G	9: 27,069,958	R915G	probably damaging	Het
Nek4	T	C	14: 30,957,292	Y190H	probably damaging	Het
Nfasc	A	C	1: 132,602,052	Y797D	probably damaging	Het
Ngp	A	G	9: 110,420,910	D92G	probably benign	Het
Nos2	A	C	11: 78,929,854	H95P	probably damaging	Het
Nr3c1	ACGTC	ACGTCGTC	18: 39,486,460		probably benign	Het
Olfr1129	C	T	2: 87,575,519	T145I	probably benign	Het
Olfr1350	C	A	7: 6,570,716	H242N	probably damaging	Het
Olfr141	A	T	2: 86,806,623	H125Q	possibly damaging	Het
Olfr498	T	C	7: 108,465,435	I37T	possibly damaging	Het
Otogl	T	A	10: 107,770,610	D2154V	probably benign	Het
Pdss1	T	A	2: 22,935,641		probably null	Het
Pex5	A	T	6: 124,398,063	L609*	probably null	Het
Pglyrp4	C	A	3: 90,732,974	A177D	probably damaging	Het
Phactr4	A	G	4: 132,377,178		probably null	Het
Pik3cd	G	C	4: 149,659,714	N193K	probably benign	Het
Prr36	TACCTCTTC	T	8: 4,215,163		probably benign	Het
Prss38	A	T	11: 59,375,558	W25R	probably benign	Het
Prss8	T	A	7: 127,926,884	Q189L	probably damaging	Het
Psd	T	A	19: 46,314,801	D713V	probably damaging	Het
Rad51ap2	C	T	12: 11,457,691	T538I	probably benign	Het
Rarres1	T	C	3: 67,515,184	T78A	probably benign	Het
Rbl2	G	T	8: 91,102,294	G651*	probably null	Het
Rev3l	A	T	10: 39,823,605	Q1366L	probably damaging	Het
Rundc1	T	C	11: 101,429,587	S215P	probably benign	Het
Scarf2	G	A	16: 17,802,973	W168*	probably null	Het
Sh2d7	A	G	9: 54,540,902	D69G	possibly damaging	Het
Slc26a4	A	T	12: 31,529,528	Y578*	probably null	Het
Slc2a9	A	T	5: 38,453,195	L87Q	probably damaging	Het
Slc39a10	A	T	1: 46,810,070	H795Q	probably damaging	Het
Spata13	C	T	14: 60,756,422	R1108W	probably damaging	Het
Sqle	T	C	15: 59,316,052	S70P	probably benign	Het
Syncrip	A	T	9: 88,464,663	F263I	probably damaging	Het
Synj2	T	C	17: 6,037,945	S1424P	possibly damaging	Het
Tax1bp3	A	T	11: 73,181,115	T89S	possibly damaging	Het
Tcaim	G	A	9: 122,819,027		probably null	Het
Tcp10c	T	C	17: 13,362,176	I240T	possibly damaging	Het
Ttll8	G	T	15: 88,917,239	N415K	probably benign	Het
Ugcg	T	C	4: 59,217,111	S212P	possibly damaging	Het
Vmn2r32	T	C	7: 7,479,808	K56E	probably benign	Het
Vmn2r55	T	C	7: 12,652,073	E660G	probably damaging	Het
Vmn2r7	T	C	3: 64,690,880	N752S	probably benign	Het
Vps54	T	A	11: 21,275,005	M167K	probably benign	Het
Vwa2	A	C	19: 56,909,359	M699L	probably benign	Het
Wdr59	A	G	8: 111,465,862	V689A		Het
Whamm	T	G	7: 81,586,247	N399K	probably damaging	Het
Zcchc6	T	C	13: 59,821,649	E144G	probably benign	Het
Zfp760	A	G	17: 21,722,779	K312E	probably benign	Het
Zkscan3	C	A	13: 21,394,813	V171L	probably benign	Het

Other mutations in Nat10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Nat10	APN	2	103725764	critical splice acceptor site	probably null
IGL01062:Nat10	APN	2	103743048	missense	probably damaging	1.00
IGL01524:Nat10	APN	2	103757757	missense	probably damaging	1.00
IGL02553:Nat10	APN	2	103752668	missense	probably damaging	1.00
IGL03040:Nat10	APN	2	103757265	splice site	probably benign
diana	UTSW	2	103725707	missense	probably benign	0.00
Trimmer	UTSW	2	103754150	missense	probably null	1.00
R0106:Nat10	UTSW	2	103757205	missense	probably damaging	1.00
R0106:Nat10	UTSW	2	103757205	missense	probably damaging	1.00
R0268:Nat10	UTSW	2	103727917	splice site	probably benign
R0422:Nat10	UTSW	2	103726729	nonsense	probably null
R0423:Nat10	UTSW	2	103748227	missense	probably damaging	0.98
R0788:Nat10	UTSW	2	103743115	missense	probably damaging	1.00
R0946:Nat10	UTSW	2	103731374	missense	probably damaging	0.99
R1353:Nat10	UTSW	2	103754073	missense	possibly damaging	0.95
R2141:Nat10	UTSW	2	103731303	splice site	probably null
R2142:Nat10	UTSW	2	103731303	splice site	probably null
R2192:Nat10	UTSW	2	103726177	missense	probably benign	0.00
R3904:Nat10	UTSW	2	103726247	splice site	probably benign
R4183:Nat10	UTSW	2	103739813	missense	probably damaging	1.00
R4496:Nat10	UTSW	2	103757739	missense	probably damaging	1.00
R4578:Nat10	UTSW	2	103754072	missense	probably damaging	1.00
R4589:Nat10	UTSW	2	103754070	missense	probably damaging	1.00
R4639:Nat10	UTSW	2	103734889	missense	probably benign	0.00
R4679:Nat10	UTSW	2	103732170	missense	probably damaging	1.00
R4711:Nat10	UTSW	2	103748267	nonsense	probably null
R5089:Nat10	UTSW	2	103757143	unclassified	probably benign
R5103:Nat10	UTSW	2	103757260	missense	probably damaging	0.97
R5108:Nat10	UTSW	2	103732203	missense	probably damaging	0.97
R5134:Nat10	UTSW	2	103743293	missense	probably benign	0.29
R5823:Nat10	UTSW	2	103730267	missense	probably damaging	1.00
R5893:Nat10	UTSW	2	103721839	unclassified	probably benign
R6135:Nat10	UTSW	2	103743316	missense	probably damaging	1.00
R6455:Nat10	UTSW	2	103739886	missense	possibly damaging	0.69
R6592:Nat10	UTSW	2	103754150	missense	probably null	1.00
R6956:Nat10	UTSW	2	103734412	missense	probably benign	0.01
R7036:Nat10	UTSW	2	103754108	missense	probably benign	0.00
R7063:Nat10	UTSW	2	103748077	missense	probably benign	0.01
R7172:Nat10	UTSW	2	103732969	missense	probably damaging	1.00
R7226:Nat10	UTSW	2	103726753	missense	probably benign	0.01
R7448:Nat10	UTSW	2	103748045	missense	probably damaging	0.99
R7470:Nat10	UTSW	2	103734881	missense	probably benign	0.00
R7639:Nat10	UTSW	2	103743090	missense	probably damaging	1.00
R7640:Nat10	UTSW	2	103743090	missense	probably damaging	1.00
R7641:Nat10	UTSW	2	103743090	missense	probably damaging	1.00
R7642:Nat10	UTSW	2	103726786	missense	possibly damaging	0.94
R7766:Nat10	UTSW	2	103725707	missense	probably benign	0.00
R7787:Nat10	UTSW	2	103721863	missense	unknown
R7910:Nat10	UTSW	2	103725145	missense	probably benign	0.26
R8506:Nat10	UTSW	2	103732237	missense	probably benign	0.12
R8774:Nat10	UTSW	2	103731407	missense	probably damaging	0.99
R8774-TAIL:Nat10	UTSW	2	103731407	missense	probably damaging	0.99
R8922:Nat10	UTSW	2	103752593	missense	probably damaging	1.00
R9283:Nat10	UTSW	2	103725747	nonsense	probably null
R9344:Nat10	UTSW	2	103743115	missense	probably damaging	1.00
R9516:Nat10	UTSW	2	103733019	missense	probably damaging	1.00
R9647:Nat10	UTSW	2	103748193	missense	probably benign
R9696:Nat10	UTSW	2	103725695	missense	possibly damaging	0.67
X0024:Nat10	UTSW	2	103727881	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- TGCTTCCAAGTGTCTGCTG -3'
(R):5'- AGACTCAGGTTGCCATGCTG -3'

Sequencing Primer
(F):5'- AAGTGTCTGCTGCCCTCACTG -3'
(R):5'- CTTTCCTTAGTCCTTAAAGGGAAGG -3'

Posted On

2019-06-26