Mutagenetix > Incidental Mutation

Incidental Mutation 'R7640:Nat10'

590167

Institutional Source

Beutler Lab

Gene Symbol

Nat10

Ensembl Gene

ENSMUSG00000027185

Gene Name

N-acetyltransferase 10

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7640 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103721256-103761270 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103743090 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 354 (A354V)

Ref Sequence

ENSEMBL: ENSMUSP00000028608 (fasta)

Gene Model

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

AlphaFold

Q8K224

Predicted Effect

probably damaging
Transcript: ENSMUST00000028608
AA Change: A354V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028608
Gene: ENSMUSG00000027185
AA Change: A354V

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

Meta Mutation Damage Score

0.3316

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (68/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	T	4: 137,454,594	N20I	probably damaging	Het
1700020D05Rik	T	A	19: 5,503,007	S249C	probably damaging	Het
4930558K02Rik	A	G	1: 161,957,149	S74P	probably benign	Het
4932415D10Rik	T	A	10: 82,294,656	N840I	probably damaging	Het
Abcb6	A	T	1: 75,174,845		probably null	Het
Adamts14	C	A	10: 61,246,057	A234S	probably benign	Het
Ankrd42	A	G	7: 92,619,635	S167P	probably benign	Het
Ap3m1	T	C	14: 21,038,175	I272V	probably benign	Het
Armt1	T	C	10: 4,453,572	F219S	probably damaging	Het
Atr	T	G	9: 95,907,293		probably null	Het
Cep72	G	A	13: 74,058,488	Q72*	probably null	Het
Clock	G	T	5: 76,248,378	L175M	possibly damaging	Het
Cnmd	T	A	14: 79,661,534	Y26F	possibly damaging	Het
Col6a6	A	T	9: 105,785,744	M198K	possibly damaging	Het
Cuta	C	T	17: 26,938,422	V135I	probably benign	Het
Ddx41	A	T	13: 55,534,239	M241K	possibly damaging	Het
Dnajc22	A	G	15: 99,101,114	N60S	probably damaging	Het
Drc3	A	G	11: 60,388,904	M432V	probably benign	Het
Eef1d	C	A	15: 75,902,707	G368C	probably damaging	Het
En2	A	T	5: 28,170,166	K236*	probably null	Het
Fas	A	G	19: 34,307,164	T24A	possibly damaging	Het
Gm13078	T	C	4: 143,726,706	V128A	probably benign	Het
Golga2	T	C	2: 32,306,239	V930A	probably benign	Het
Gprin2	G	T	14: 34,195,753	A20D	probably benign	Het
Ighv14-4	A	T	12: 114,176,444	C115*	probably null	Het
Impdh2	T	C	9: 108,565,181	Y459H	possibly damaging	Het
Klhdc7b	G	T	15: 89,387,260	V124L	possibly damaging	Het
L2hgdh	A	T	12: 69,721,357	Y122*	probably null	Het
Lamc2	A	T	1: 153,136,804	I708N	possibly damaging	Het
Large2	T	C	2: 92,374,705	M1V	probably null	Het
Lrit2	T	C	14: 37,072,124	W382R	probably damaging	Het
Mcee	T	A	7: 64,411,968	V173E	probably damaging	Het
Mcph1	T	A	8: 18,632,326	V493E	probably benign	Het
Mfap4	A	G	11: 61,487,087	N118D	probably damaging	Het
Mknk2	T	C	10: 80,668,566	S301G	probably benign	Het
Mlf1	G	A	3: 67,392,933	M94I	possibly damaging	Het
Mrc2	T	A	11: 105,332,295	S455T	possibly damaging	Het
Mrgprb5	T	G	7: 48,168,259	I243L	probably benign	Het
Muc4	C	A	16: 32,760,105	P360T		Het
Nts	T	C	10: 102,490,304	Q7R	possibly damaging	Het
Oas1b	T	C	5: 120,821,414	L288P	probably damaging	Het
Olfr1076	A	G	2: 86,508,943	I161M	possibly damaging	Het
Olfr1131	A	G	2: 87,629,092	I94V	probably benign	Het
Olfr1196	T	A	2: 88,700,886	I148L	probably benign	Het
Olfr633	A	T	7: 103,946,943	I126F	probably damaging	Het
Otoa	A	G	7: 121,145,626	E869G	probably damaging	Het
Pcdhac2	T	C	18: 37,144,525	L186P	probably damaging	Het
Plekhh2	A	G	17: 84,610,776	E1271G	possibly damaging	Het
Pmepa1	C	T	2: 173,276,163	A8T	probably benign	Het
Rc3h2	A	G	2: 37,377,849		probably null	Het
Rlf	T	A	4: 121,146,801	M1771L	possibly damaging	Het
Rpap1	G	A	2: 119,764,410	P1372L	possibly damaging	Het
Rragd	A	T	4: 32,983,527	D22V	probably benign	Het
Sema3f	A	T	9: 107,683,575	S644R	probably benign	Het
Sp110	G	A	1: 85,579,092	R417C	probably benign	Het
Specc1l	T	A	10: 75,257,869	N717K	probably damaging	Het
Sphkap	C	T	1: 83,278,928	D367N	possibly damaging	Het
Tbc1d21	C	T	9: 58,361,261	V272M	probably damaging	Het
Tmem132c	A	G	5: 127,563,006	D747G	probably damaging	Het
Tmem56	A	G	3: 121,235,041		probably null	Het
Trim2	C	A	3: 84,190,906	V372F	probably benign	Het
Ttc34	A	G	4: 154,861,384	T292A	probably benign	Het
Ube3b	A	G	5: 114,415,323	T919A	probably benign	Het
Wdr34	T	G	2: 30,031,768	D527A	probably benign	Het
Zfhx4	T	C	3: 5,412,480	I3385T	probably benign	Het
Zfp423	T	C	8: 87,781,277	K813R	probably damaging	Het
Zfp850	T	C	7: 27,989,209	T525A	probably benign	Het
Zfp873	T	C	10: 82,060,275	I280T	possibly damaging	Het
Zkscan7	A	G	9: 122,896,056	T697A	possibly damaging	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
R7286:Nat10	UTSW	2	103754169	missense	probably benign	0.02
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
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'- GAATGCCATCCTCACTTGGTG -3'
(R):5'- TGCTCTGCAGTATCAGGTAAG -3'

Sequencing Primer
(F):5'- CACTTGGTGCTGATAATCTGC -3'
(R):5'- CTCTGCAGTATCAGGTAAGAAAGTC -3'

Posted On

2019-10-24