Incidental Mutation 'R0530:Nat1'
ID 49108
Institutional Source Beutler Lab
Gene Symbol Nat1
Ensembl Gene ENSMUSG00000025588
Gene Name N-acetyl transferase 1
Synonyms Nat-1
MMRRC Submission 038722-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0530 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 67943620-67945183 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67943977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 121 (K121E)
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: K118E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026677
Gene: ENSMUSG00000025588
AA Change: K118E

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 benign
Transcript: ENSMUST00000212171
AA Change: K121E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 96% (51/53)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,083,920 (GRCm39) W617R probably damaging Het
Adam34l A T 8: 44,079,568 (GRCm39) C219S probably benign Het
Cep83 A T 10: 94,555,450 (GRCm39) probably benign Het
Ces1e G A 8: 93,946,149 (GRCm39) probably benign Het
Ckap2 A G 8: 22,665,988 (GRCm39) probably benign Het
Clip1 C A 5: 123,778,594 (GRCm39) R443L probably damaging Het
Clmp A G 9: 40,672,302 (GRCm39) D44G probably benign Het
Cntnap2 G A 6: 46,506,839 (GRCm39) Q304* probably null Het
Cst7 A T 2: 150,412,435 (GRCm39) probably benign Het
Dclk3 A T 9: 111,311,789 (GRCm39) Y677F probably damaging Het
Dlat G T 9: 50,548,869 (GRCm39) N562K probably damaging Het
Elmod1 A T 9: 53,833,260 (GRCm39) Y182N probably damaging Het
Fzd10 T C 5: 128,679,077 (GRCm39) F266L probably damaging Het
Gm8258 A G 5: 104,923,952 (GRCm39) noncoding transcript Het
Gm9742 T A 13: 8,080,041 (GRCm39) noncoding transcript Het
Hdlbp T C 1: 93,358,039 (GRCm39) probably benign Het
Itga8 A G 2: 12,196,627 (GRCm39) S597P probably damaging Het
Kndc1 A T 7: 139,481,153 (GRCm39) I80F probably damaging Het
Ktn1 A G 14: 47,970,700 (GRCm39) N1192S probably benign Het
Ldha G A 7: 46,503,417 (GRCm39) V270M probably damaging Het
Lyst T C 13: 13,931,891 (GRCm39) probably benign Het
Map3k9 A T 12: 81,769,256 (GRCm39) F954I probably benign Het
Mroh2b A G 15: 4,963,877 (GRCm39) N823S probably damaging Het
Mycbp2 A T 14: 103,419,895 (GRCm39) N2480K probably damaging Het
Neurl1b T A 17: 26,660,519 (GRCm39) probably null Het
Nnt C A 13: 119,531,257 (GRCm39) L163F probably damaging Het
Or10v5 A G 19: 11,805,556 (GRCm39) V278A probably benign Het
Otog A G 7: 45,947,668 (GRCm39) T2274A probably damaging Het
Pde4b G A 4: 102,459,848 (GRCm39) R561Q probably damaging Het
Pitpnm2 A G 5: 124,269,264 (GRCm39) F453L probably damaging Het
Pms1 T C 1: 53,235,972 (GRCm39) probably null Het
Pot1a A G 6: 25,771,540 (GRCm39) V227A possibly damaging Het
Prdx6b A G 2: 80,123,659 (GRCm39) N156S probably damaging Het
Ptpn9 A G 9: 56,968,417 (GRCm39) S586G probably benign Het
Serpina6 A T 12: 103,618,053 (GRCm39) N253K probably damaging Het
Slc12a2 T A 18: 58,052,608 (GRCm39) V809D possibly damaging Het
Slc2a8 C T 2: 32,863,696 (GRCm39) A449T probably benign Het
Slc6a6 A G 6: 91,701,939 (GRCm39) I116V probably null Het
Synj2 T A 17: 6,058,380 (GRCm39) S58R possibly damaging Het
Tafa3 T C 3: 104,679,487 (GRCm39) probably benign Het
Tktl2 T C 8: 66,965,831 (GRCm39) V463A probably damaging Het
Uchl5 T C 1: 143,670,082 (GRCm39) V105A possibly damaging Het
Usp9y T C Y: 1,333,600 (GRCm39) probably benign Het
Vmn1r200 T C 13: 22,579,667 (GRCm39) S148P probably damaging Het
Vmn2r50 A T 7: 9,781,644 (GRCm39) M367K possibly damaging Het
Vps13a T C 19: 16,632,570 (GRCm39) probably benign Het
Wdr26 A T 1: 181,013,635 (GRCm39) probably null Het
Wdr87-ps A G 7: 29,229,545 (GRCm39) noncoding transcript Het
Ythdc2 T A 18: 44,983,465 (GRCm39) M544K probably damaging Het
Zpld2 A G 4: 133,930,221 (GRCm39) I28T probably benign 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
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
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'- TTCTTCAGCACCAGATGCGAGCAG -3'
(R):5'- AAACAGTGAACCCCTTCCGAGGTC -3'

Sequencing Primer
(F):5'- CTTAACATGCATTGTGGAGAAGCC -3'
(R):5'- GTGCTTACAAACACAGATGCTG -3'
Posted On 2013-06-12