Mutagenetix > Incidental Mutation

Incidental Mutation 'R6383:Nat1'

515443

Institutional Source

Beutler Lab

Gene Symbol

Nat1

Ensembl Gene

ENSMUSG00000025588

Gene Name

N-acetyl transferase 1

Synonyms

Nat-1

MMRRC Submission

044532-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6383 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67943620-67945183 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67944134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 170 (V170A)

Ref Sequence

ENSEMBL: ENSMUSP00000026677 (fasta)

Gene Model

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

AlphaFold

P50294

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026677
AA Change: V170A

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026677
Gene: ENSMUSG00000025588
AA Change: V170A

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: V173A

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

97% (73/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,286,343 (GRCm39)	M2497K	probably benign	Het
Abtb2	C	T	2: 103,397,721 (GRCm39)	T217I	probably damaging	Het
Adam29	T	A	8: 56,324,543 (GRCm39)	N637I	probably damaging	Het
Adgb	T	A	10: 10,325,772 (GRCm39)	E59V	probably damaging	Het
Adh7	C	T	3: 137,933,778 (GRCm39)	R312C	probably benign	Het
Adprh	A	G	16: 38,267,814 (GRCm39)	I157T	probably damaging	Het
Ap2b1	T	C	11: 83,237,651 (GRCm39)	S572P	probably damaging	Het
Asic1	T	C	15: 99,596,761 (GRCm39)	L519P	probably damaging	Het
Atp2a2	G	C	5: 122,639,712 (GRCm39)	L13V	probably benign	Het
Bst2	A	T	8: 71,989,932 (GRCm39)	I47N	possibly damaging	Het
Cacng6	G	A	7: 3,473,509 (GRCm39)		probably null	Het
Cenpe	A	G	3: 134,957,289 (GRCm39)	E1849G	probably damaging	Het
Cep295	T	A	9: 15,244,050 (GRCm39)	T213S	probably damaging	Het
Chia1	A	G	3: 106,039,127 (GRCm39)	T406A	probably benign	Het
Chmp4c	G	T	3: 10,432,277 (GRCm39)	K62N	probably damaging	Het
Cldn15	A	G	5: 136,996,979 (GRCm39)	T7A	probably benign	Het
Cmpk2	T	A	12: 26,528,019 (GRCm39)	M412K	probably benign	Het
Cnnm1	T	C	19: 43,453,705 (GRCm39)		probably null	Het
Cubn	A	C	2: 13,432,646 (GRCm39)		probably null	Het
Dop1b	T	C	16: 93,579,136 (GRCm39)	V1668A	possibly damaging	Het
Erg28	T	A	12: 85,863,203 (GRCm39)	Y77F	probably damaging	Het
F830045P16Rik	C	T	2: 129,378,358 (GRCm39)	A9T	probably benign	Het
Gli3	A	G	13: 15,898,140 (GRCm39)	D740G	probably damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gpat3	A	T	5: 101,041,010 (GRCm39)	M357L	probably benign	Het
Gpr179	A	G	11: 97,227,973 (GRCm39)	V1394A	possibly damaging	Het
Grn	T	A	11: 102,327,621 (GRCm39)		probably benign	Het
H2-Q6	G	A	17: 35,647,359 (GRCm39)		probably null	Het
Igsf3	A	G	3: 101,342,964 (GRCm39)	T514A	probably benign	Het
Il1r1	A	G	1: 40,352,495 (GRCm39)	D558G	possibly damaging	Het
Irx4	T	C	13: 73,415,832 (GRCm39)	M207T	possibly damaging	Het
Kap	T	C	6: 133,828,920 (GRCm39)	I54V	probably benign	Het
Kdm2b	G	A	5: 123,072,841 (GRCm39)	R340C	probably damaging	Het
Lipo3	T	A	19: 33,533,831 (GRCm39)	M334L	probably benign	Het
Lmbrd1	C	T	1: 24,745,115 (GRCm39)	L152F	probably damaging	Het
Ltbp1	G	A	17: 75,666,452 (GRCm39)	V1382I	probably damaging	Het
Map3k4	C	T	17: 12,468,470 (GRCm39)	D1008N	possibly damaging	Het
Mcf2l	T	C	8: 12,929,912 (GRCm39)		probably benign	Het
Mecom	T	G	3: 30,051,875 (GRCm39)	D180A	probably damaging	Het
Meis1	T	C	11: 18,891,741 (GRCm39)	D269G	probably benign	Het
Myh7	A	C	14: 55,226,351 (GRCm39)	S430A	probably benign	Het
Myo1h	A	G	5: 114,474,325 (GRCm39)	I439V	probably damaging	Het
Nlrp12	A	G	7: 3,282,673 (GRCm39)	L742P	probably damaging	Het
Nlrp4c	A	G	7: 6,069,052 (GRCm39)	T318A	probably benign	Het
Or4d10	T	A	19: 12,051,727 (GRCm39)	I90F	probably damaging	Het
Or4k47	T	A	2: 111,451,531 (GRCm39)	N296I	probably benign	Het
Or51ai2	A	G	7: 103,587,030 (GRCm39)	I148V	probably benign	Het
Or8g33	G	T	9: 39,337,530 (GRCm39)	T279N	probably damaging	Het
Or8g35	A	T	9: 39,381,926 (GRCm39)	L32Q	probably damaging	Het
Otop3	A	G	11: 115,235,898 (GRCm39)	E529G	probably damaging	Het
Parp6	T	C	9: 59,531,222 (GRCm39)	Y35H	probably damaging	Het
Pcdhb4	A	C	18: 37,441,074 (GRCm39)	D128A	probably damaging	Het
Phldb2	C	T	16: 45,569,113 (GRCm39)	D1249N	probably damaging	Het
Pramel30	A	T	4: 144,059,717 (GRCm39)	*476L	probably null	Het
Ptpn12	T	A	5: 21,192,466 (GRCm39)	K765*	probably null	Het
Ptprb	T	A	10: 116,182,912 (GRCm39)	Y1529*	probably null	Het
Ptprc	A	T	1: 138,006,189 (GRCm39)	Y798N	possibly damaging	Het
Sdk2	G	A	11: 113,723,091 (GRCm39)	T1300I	probably damaging	Het
Slc28a2b	T	C	2: 122,355,288 (GRCm39)	I555T	probably benign	Het
Sptbn2	G	A	19: 4,782,524 (GRCm39)	V487I	possibly damaging	Het
Sptbn5	A	G	2: 119,876,750 (GRCm39)		probably benign	Het
Srpk1	A	G	17: 28,809,036 (GRCm39)	S648P	probably damaging	Het
Stard9	T	C	2: 120,496,888 (GRCm39)		probably null	Het
Tmem135	A	T	7: 88,793,878 (GRCm39)	I388N	probably damaging	Het
Top3a	A	T	11: 60,640,285 (GRCm39)	I446N	probably benign	Het
Trpv1	T	C	11: 73,136,862 (GRCm39)	S482P	probably damaging	Het
Ugt3a1	C	T	15: 9,306,541 (GRCm39)	A230V	probably benign	Het
Vmn2r15	A	C	5: 109,441,092 (GRCm39)	Y255*	probably null	Het
Vmn2r60	A	G	7: 41,765,895 (GRCm39)	M1V	probably null	Het
Vmn2r87	A	G	10: 130,314,869 (GRCm39)	V239A	probably damaging	Het
Vwce	T	A	19: 10,636,956 (GRCm39)	C679*	probably null	Het
Zfp385b	C	T	2: 77,246,185 (GRCm39)	A281T	probably benign	Het
Zfp398	T	G	6: 47,843,529 (GRCm39)	L395W	probably damaging	Het
Zfp442	C	T	2: 150,293,321 (GRCm39)		probably null	Het
Zfp606	A	G	7: 12,226,871 (GRCm39)	S331G	probably benign	Het
Zfp882	A	G	8: 72,668,484 (GRCm39)	H437R	probably damaging	Het

Other mutations in Nat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00953:Nat1	APN	8	67,943,630 (GRCm39)	missense	possibly damaging	0.84
IGL02004:Nat1	APN	8	67,943,878 (GRCm39)	missense	probably benign	0.02
IGL02054:Nat1	APN	8	67,944,074 (GRCm39)	missense	probably damaging	1.00
R0530:Nat1	UTSW	8	67,943,977 (GRCm39)	missense	probably benign
R0562:Nat1	UTSW	8	67,943,963 (GRCm39)	missense	possibly damaging	0.56
R1885:Nat1	UTSW	8	67,943,653 (GRCm39)	missense	probably damaging	1.00
R1924:Nat1	UTSW	8	67,944,076 (GRCm39)	missense	probably benign	0.00
R3545:Nat1	UTSW	8	67,943,684 (GRCm39)	missense	possibly damaging	0.91
R3547:Nat1	UTSW	8	67,943,684 (GRCm39)	missense	possibly damaging	0.91
R5007:Nat1	UTSW	8	67,944,077 (GRCm39)	missense	probably benign
R5042:Nat1	UTSW	8	67,944,228 (GRCm39)	missense	probably benign	0.00
R6240:Nat1	UTSW	8	67,944,354 (GRCm39)	missense	possibly damaging	0.53
R6437:Nat1	UTSW	8	67,944,388 (GRCm39)	missense	possibly damaging	0.90
R6846:Nat1	UTSW	8	67,943,995 (GRCm39)	missense	probably benign	0.00
R7108:Nat1	UTSW	8	67,943,672 (GRCm39)	missense	probably benign
R7164:Nat1	UTSW	8	67,944,329 (GRCm39)	missense	possibly damaging	0.78
R8199:Nat1	UTSW	8	67,943,650 (GRCm39)	missense	probably damaging	0.98
R8724:Nat1	UTSW	8	67,944,443 (GRCm39)	missense	probably damaging	0.99
R8993:Nat1	UTSW	8	67,944,394 (GRCm39)	missense	probably benign	0.01
R9054:Nat1	UTSW	8	67,943,723 (GRCm39)	missense	probably benign	0.00
Z1177:Nat1	UTSW	8	67,944,365 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTACAGGTGACCATCAGTGAC -3'
(R):5'- TCCTACTTGTAAAGGTGGAGC -3'

Sequencing Primer
(F):5'- CAGGAAGTACATTGTGGATTCCGC -3'
(R):5'- TGAACCCCTTCCGAGGTCTG -3'

Posted On

2018-05-04