Incidental Mutation 'R8199:Nat1'
ID 635592
Institutional Source Beutler Lab
Gene Symbol Nat1
Ensembl Gene ENSMUSG00000025588
Gene Name N-acetyl transferase 1
Synonyms Nat-1
MMRRC Submission 067622-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8199 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 67943620-67945183 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67943650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 9 (R9G)
Ref Sequence ENSEMBL: ENSMUSP00000026677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026677] [ENSMUST00000093470] [ENSMUST00000163856] [ENSMUST00000212171]
AlphaFold P50294
Predicted Effect probably damaging
Transcript: ENSMUST00000026677
AA Change: R9G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026677
Gene: ENSMUSG00000025588
AA Change: R9G

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 probably damaging
Transcript: ENSMUST00000212171
AA Change: R12G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,275,304 (GRCm39) Y336H probably damaging Het
4930563I02Rik A G 14: 60,333,388 (GRCm39) I42M noncoding transcript Het
Acad9 T C 3: 36,139,572 (GRCm39) S391P probably damaging Het
Aven C T 2: 112,390,120 (GRCm39) R8W probably benign Het
Cacna1c T C 6: 118,651,545 (GRCm39) T972A probably benign Het
Col25a1 G A 3: 130,345,628 (GRCm39) G406E probably damaging Het
Coro2b T G 9: 62,336,302 (GRCm39) I267L probably benign Het
Cst12 A G 2: 148,631,459 (GRCm39) N60S probably benign Het
Dnah8 A T 17: 31,090,393 (GRCm39) I4632F probably benign Het
Eif3d C T 15: 77,844,292 (GRCm39) C404Y possibly damaging Het
Elapor2 C T 5: 9,470,657 (GRCm39) T260M probably damaging Het
Fam43a A T 16: 30,419,586 (GRCm39) K57* probably null Het
Fbrs T C 7: 127,086,956 (GRCm39) probably null Het
Fcnb C T 2: 27,968,330 (GRCm39) S209N possibly damaging Het
Fggy G A 4: 95,700,381 (GRCm39) E351K probably benign Het
Gabra6 G A 11: 42,207,280 (GRCm39) S268L probably damaging Het
Gatm A G 2: 122,432,994 (GRCm39) Y223H probably damaging Het
Gli3 T A 13: 15,900,576 (GRCm39) M1321K probably benign Het
Hira G A 16: 18,766,194 (GRCm39) A669T probably benign Het
Hoxa5 T C 6: 52,181,240 (GRCm39) S31G probably benign Het
Kdm2a T A 19: 4,439,054 (GRCm39) Q25L unknown Het
Loxhd1 C A 18: 77,469,334 (GRCm39) N1000K possibly damaging Het
Mpdu1 C T 11: 69,548,069 (GRCm39) W235* probably null Het
Msantd2 G C 9: 37,400,789 (GRCm39) G57A probably benign Het
Nbl1 G A 4: 138,810,880 (GRCm39) P105S probably damaging Het
Or2j3 T C 17: 38,615,444 (GRCm39) R303G probably benign Het
Or52e4 A C 7: 104,705,852 (GRCm39) Q133P probably damaging Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Pdzrn3 T C 6: 101,128,918 (GRCm39) S583G probably damaging Het
Prpf4 A G 4: 62,340,866 (GRCm39) D427G probably damaging Het
Ptpn21 T A 12: 98,644,841 (GRCm39) I1167F possibly damaging Het
Rasgrp1 T A 2: 117,124,293 (GRCm39) H303L probably damaging Het
Ros1 T A 10: 51,977,813 (GRCm39) K1499* probably null Het
Skida1 C A 2: 18,052,959 (GRCm39) L64F probably damaging Het
St3gal5 T C 6: 72,119,175 (GRCm39) Y123H probably benign Het
Syk T C 13: 52,778,768 (GRCm39) S285P probably benign Het
Syt4 T C 18: 31,577,268 (GRCm39) T29A probably benign Het
Trav7-3 A G 14: 53,681,099 (GRCm39) D47G possibly damaging Het
Trpm7 A G 2: 126,691,918 (GRCm39) F146L probably damaging Het
Utp20 A T 10: 88,634,337 (GRCm39) D786E probably benign Het
Uts2 G A 4: 151,086,115 (GRCm39) C117Y possibly damaging Het
Zfp553 T C 7: 126,835,468 (GRCm39) L341P probably damaging Het
Zfp994 T A 17: 22,419,204 (GRCm39) K582* probably null Het
Other mutations in Nat1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R6383:Nat1 UTSW 8 67,944,134 (GRCm39) missense possibly damaging 0.90
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
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'- ATGCAGTCAAAGTGATATGATTGCC -3'
(R):5'- TTTGGTCAGAGCCCAGTACAG -3'

Sequencing Primer
(F):5'- ATTGCCTATGAGATAGTTAGAGGC -3'
(R):5'- CCAGTACAGCAGATGATTAACCTGG -3'
Posted On 2020-07-13