Mutagenetix > Incidental Mutations

Incidental Mutation 'R8993:Nat1'

684546

Institutional Source

Beutler Lab

Gene Symbol

Nat1

Ensembl Gene

ENSMUSG00000025588

Gene Name

N-acetyl transferase 1

Synonyms

Nat-1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8993 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67480921-67492104 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67491742 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 260 (Y260H)

Ref Sequence

ENSEMBL: ENSMUSP00000148354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026677] [ENSMUST00000093470] [ENSMUST00000163856] [ENSMUST00000212171]

AlphaFold

P50294

Predicted Effect

probably benign
Transcript: ENSMUST00000026677
AA Change: Y257H

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

SMART Domains

Protein: ENSMUSP00000026677
Gene: ENSMUSG00000025588
AA Change: Y257H

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_2	20	280	1e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093470

SMART Domains

Protein: ENSMUSP00000091181
Gene: ENSMUSG00000051147

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_2	20	280	3.6e-99	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163856

SMART Domains

Protein: ENSMUSP00000130065
Gene: ENSMUSG00000051147

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_2	20	280	3.3e-98	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212171
AA Change: Y260H

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes. Polymorphisms in this gene are also associated with higher incidences of cancer and drug toxicity. A second arylamine N-acetyltransferase gene (NAT1) is located near this gene (NAT2). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit reduced fertility and a significant reduction in hepatic N-acetyltransferase 1 activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	T	5: 113,703,781	C92*	probably null	Het
A830018L16Rik	G	T	1: 11,545,267	E155*	probably null	Het
Acaa1a	A	T	9: 119,349,352		probably null	Het
Adcy4	T	C	14: 55,771,378	E864G	probably null	Het
Adcy4	T	C	14: 55,778,699	D387G	probably damaging	Het
Ank1	C	T	8: 23,098,939	H574Y	probably damaging	Het
Arhgef16	C	T	4: 154,287,038	E233K	probably damaging	Het
Arhgef26	A	T	3: 62,448,104	Y699F	probably benign	Het
BB014433	C	T	8: 15,042,101	V251M	probably damaging	Het
Bcan	G	A	3: 87,994,222	A391V	probably benign	Het
Bod1l	A	C	5: 41,816,867	V2368G	probably benign	Het
Braf	A	G	6: 39,662,151	V222A	probably damaging	Het
Cd33	G	T	7: 43,533,447		probably benign	Het
Cdkl2	T	A	5: 92,022,151	K324N	probably damaging	Het
Celf6	A	T	9: 59,602,871	T199S	probably damaging	Het
Cmtm4	A	C	8: 104,355,166	D196E	probably benign	Het
Cntn1	G	A	15: 92,234,466	V148M	probably damaging	Het
Col1a2	C	A	6: 4,535,451	P921H	unknown	Het
Crmp1	T	C	5: 37,242,146	M1T	probably null	Het
Dnah7a	A	T	1: 53,504,103	Y2303N	probably damaging	Het
Dock10	G	T	1: 80,574,171	T650K	probably benign	Het
Fam24a	A	G	7: 131,336,540	D53G	probably benign	Het
Foxa2	A	T	2: 148,044,706	M69K	probably benign	Het
Gatad2a	T	A	8: 69,909,935	H601L	probably damaging	Het
Gimap4	A	C	6: 48,690,605	D98A	probably damaging	Het
Gm14295	G	T	2: 176,809,830	R371L	possibly damaging	Het
Gm5039	A	G	12: 88,321,400	F28L	probably benign	Het
Golim4	G	T	3: 75,878,128	A652E	probably benign	Het
Grid1	A	G	14: 35,026,942	I240V	probably benign	Het
Iqsec3	T	A	6: 121,413,313	T400S	unknown	Het
Itk	G	A	11: 46,334,908	R539C	probably damaging	Het
Kdelc1	G	T	1: 44,112,764	L322I	possibly damaging	Het
Kif27	T	A	13: 58,326,098	D695V	possibly damaging	Het
Krt79	T	C	15: 101,931,006		probably benign	Het
Lama2	C	A	10: 27,422,714	V129L	possibly damaging	Het
Lonrf1	C	A	8: 36,229,238	E552D	possibly damaging	Het
Mpp3	A	G	11: 102,000,665	I549T	probably benign	Het
Nipal2	T	A	15: 34,648,837	K69*	probably null	Het
Nlrx1	G	T	9: 44,256,941		probably benign	Het
Pde1b	C	A	15: 103,521,425	A115E	probably benign	Het
Pde4dip	A	G	3: 97,766,494	Y369H	probably damaging	Het
Pnpla7	A	G	2: 25,053,419	Y1286C	possibly damaging	Het
Pramel5	T	C	4: 144,272,959	E186G	possibly damaging	Het
Qdpr	C	T	5: 45,450,044	G20D	probably damaging	Het
Rmnd1	T	G	10: 4,407,918	I364L	probably benign	Het
Slc5a4a	A	T	10: 76,186,535	E568V	probably benign	Het
Slc6a18	T	A	13: 73,668,271	I330F	probably benign	Het
Spesp1	T	C	9: 62,273,270	T119A	possibly damaging	Het
Sypl	G	A	12: 32,975,663	S242N	probably benign	Het
Tbx18	G	A	9: 87,730,717	T43M	probably benign	Het
Tm7sf2	T	A	19: 6,063,926	D263V	probably damaging	Het
Trbv21	T	C	6: 41,202,990	I80T	probably damaging	Het
Ttc3	T	A	16: 94,427,808	L747Q	possibly damaging	Het
Ttll11	T	C	2: 35,817,801	D498G	possibly damaging	Het
Ttn	T	C	2: 76,753,370	Y22431C	probably null	Het
Ubtfl1	T	A	9: 18,410,341	S388R		Het
Vmn2r118	A	T	17: 55,610,835	L226I	possibly damaging	Het
Wdr46	A	G	17: 33,949,182	H576R	probably benign	Het
Zfp426	A	G	9: 20,475,000	F62L	probably damaging	Het

Other mutations in Nat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Nat1	APN	8	67490978	missense	possibly damaging	0.84
IGL02004:Nat1	APN	8	67491226	missense	probably benign	0.02
IGL02054:Nat1	APN	8	67491422	missense	probably damaging	1.00
R0530:Nat1	UTSW	8	67491325	missense	probably benign
R0562:Nat1	UTSW	8	67491311	missense	possibly damaging	0.56
R1885:Nat1	UTSW	8	67491001	missense	probably damaging	1.00
R1924:Nat1	UTSW	8	67491424	missense	probably benign	0.00
R3545:Nat1	UTSW	8	67491032	missense	possibly damaging	0.91
R3547:Nat1	UTSW	8	67491032	missense	possibly damaging	0.91
R5007:Nat1	UTSW	8	67491425	missense	probably benign
R5042:Nat1	UTSW	8	67491576	missense	probably benign	0.00
R6240:Nat1	UTSW	8	67491702	missense	possibly damaging	0.53
R6383:Nat1	UTSW	8	67491482	missense	possibly damaging	0.90
R6437:Nat1	UTSW	8	67491736	missense	possibly damaging	0.90
R6846:Nat1	UTSW	8	67491343	missense	probably benign	0.00
R7108:Nat1	UTSW	8	67491020	missense	probably benign
R7164:Nat1	UTSW	8	67491677	missense	possibly damaging	0.78
R8199:Nat1	UTSW	8	67490998	missense	probably damaging	0.98
R8724:Nat1	UTSW	8	67491791	missense	probably damaging	0.99
R9054:Nat1	UTSW	8	67491071	missense	probably benign	0.00
Z1177:Nat1	UTSW	8	67491713	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTTGAGCCCCGAGTTATC -3'
(R):5'- TCATTAGTTGGTCAGCATTGGAC -3'

Sequencing Primer
(F):5'- TCGAGGATTTTGAATATGTGAATAGC -3'
(R):5'- CAGCATTGGACTGGGTGATTTC -3'

Posted On

2021-10-11