Incidental Mutation 'R7164:Nat1'
ID557805
Institutional Source Beutler Lab
Gene Symbol Nat1
Ensembl Gene ENSMUSG00000025588
Gene NameN-acetyl transferase 1
SynonymsNat-1
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7164 (G1)
Quality Score225.009
Status Validated
Chromosome8
Chromosomal Location67480921-67492104 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 67491677 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
Pfam:Acetyltransf_2 20 280 1e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093470
SMART Domains Protein: ENSMUSP00000091181
Gene: ENSMUSG00000051147

DomainStartEndE-ValueType
Pfam:Acetyltransf_2 20 280 3.6e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163856
SMART Domains Protein: ENSMUSP00000130065
Gene: ENSMUSG00000051147

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 On2019-06-26