Mutagenetix > Incidental Mutation

Incidental Mutation 'R7164:Nat1'

557805

Institutional Source

Beutler Lab

Gene Symbol

Nat1

Ensembl Gene

ENSMUSG00000025588

Gene Name

N-acetyl transferase 1

Synonyms

Nat-1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7164 (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 67491677 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 238 (V238A)

Ref Sequence

ENSEMBL: ENSMUSP00000148354 (fasta)

Gene Model

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

AlphaFold

P50294

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026677
AA Change: V235A

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026677
Gene: ENSMUSG00000025588
AA Change: V235A

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

possibly damaging
Transcript: ENSMUST00000212171
AA Change: V238A

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

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

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	C	A	4: 107,894,890	D155E	not run	Het
4932415D10Rik	G	A	10: 82,286,229	T3649I	probably damaging	Het
Actn2	G	A	13: 12,278,961	H558Y	probably damaging	Het
Akap9	G	C	5: 4,060,364	E3022D	probably damaging	Het
Anapc2	C	T	2: 25,284,999	R710C	probably damaging	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Carmil3	A	G	14: 55,501,282	E844G	probably damaging	Het
Cdk17	T	G	10: 93,232,481	S367A	probably benign	Het
Cfap206	T	A	4: 34,719,656	M253L	probably benign	Het
Chd3	T	G	11: 69,362,306	K228Q	probably damaging	Het
Cit	T	A	5: 115,985,787	I1503N	possibly damaging	Het
Csn1s1	A	G	5: 87,674,228	N119S	possibly damaging	Het
Degs1	A	G	1: 182,279,125	S226P	probably damaging	Het
Espl1	T	C	15: 102,313,203	W976R	probably damaging	Het
Fbxl4	C	T	4: 22,386,218	P275L	probably benign	Het
Flnb	A	G	14: 7,915,944		probably null	Het
Gm996	T	A	2: 25,578,567	H444L	possibly damaging	Het
Gnptab	T	A	10: 88,434,070	Y878*	probably null	Het
Gpr89	A	T	3: 96,871,398	M453K	probably benign	Het
Igsf5	A	T	16: 96,372,848	Q26L	possibly damaging	Het
Inpp5e	T	A	2: 26,407,983	D202V	possibly damaging	Het
Itga3	C	T	11: 95,052,479	V931M	possibly damaging	Het
Kcnab3	T	C	11: 69,331,358		probably null	Het
Klk4	T	C	7: 43,881,698	I17T	possibly damaging	Het
Lrrc73	T	C	17: 46,256,243	L206P	probably damaging	Het
Manba	A	T	3: 135,542,388	N346I	probably damaging	Het
Map4k4	T	C	1: 39,973,972	Y76H	possibly damaging	Het
Map4k5	T	C	12: 69,830,436	T312A	probably benign	Het
Masp2	A	G	4: 148,610,115		probably null	Het
Mast1	T	C	8: 84,935,304	D63G	possibly damaging	Het
Mtf2	T	A	5: 108,093,369	S254T	possibly damaging	Het
Myo16	A	T	8: 10,569,585	T1379S	unknown	Het
Myo5a	A	G	9: 75,180,153	E1097G	probably benign	Het
Nhlrc2	A	G	19: 56,592,499	D493G	probably damaging	Het
Olfr1165-ps	T	C	2: 88,101,832	K52E	probably damaging	Het
Olfr1331	C	T	4: 118,869,725	P315S	probably benign	Het
Olfr1462	A	T	19: 13,190,906	M80L	probably benign	Het
Olfr291	A	G	7: 84,857,043	I227V	possibly damaging	Het
Olfr50	T	C	2: 36,793,697	S154P	probably benign	Het
Olfr919	A	G	9: 38,698,219	I49T	possibly damaging	Het
Pcsk5	C	T	19: 17,451,985	C1543Y	probably damaging	Het
Pde4d	A	G	13: 109,032,688	D88G	probably benign	Het
Pld5	A	T	1: 176,213,621	M1K	probably null	Het
Prmt6	A	G	3: 110,250,364	M203T	probably benign	Het
Prr14l	A	T	5: 32,829,166	V995D	probably damaging	Het
Psg18	T	C	7: 18,350,937	E199G	possibly damaging	Het
Pth1r	A	G	9: 110,723,747	I439T	possibly damaging	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Slc44a1	T	C	4: 53,528,711	S154P	probably benign	Het
Slco1c1	T	A	6: 141,542,129	Y192*	probably null	Het
Spag16	A	G	1: 70,724,866	H615R	possibly damaging	Het
Tas2r114	G	A	6: 131,689,765	A100V	possibly damaging	Het
U2af1l4	T	C	7: 30,565,119	S103P	probably benign	Het
Usp10	T	C	8: 119,942,108	S383P	probably damaging	Het
Vmn2r113	A	G	17: 22,948,163	R505G	probably benign	Het
Vmn2r75	A	C	7: 86,165,384	D300E	probably damaging	Het
Zfp318	T	A	17: 46,397,306		probably null	Het
Zfp318	T	C	17: 46,405,939	V999A	probably damaging	Het
Zfp324	A	T	7: 12,968,883	H58L	probably damaging	Het
Zfp707	A	G	15: 75,975,118	E339G	possibly 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
R8199:Nat1	UTSW	8	67490998	missense	probably damaging	0.98
R8724:Nat1	UTSW	8	67491791	missense	probably damaging	0.99
R8993:Nat1	UTSW	8	67491742	missense	probably benign	0.01
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'- TCAGAAGAGAGCAGTATGTTCC -3'
(R):5'- TGGAGAACAATTTTGCTCCTTACC -3'

Sequencing Primer
(F):5'- GAATTTGTTAACTCAGACCTCCTTG -3'
(R):5'- ACAATTTTGCTCCTTACCCTAAATAG -3'

Posted On

2019-06-26