|Institutional Source||Beutler Lab|
|Gene Name||N-acetyl transferase 1|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7164 (G1)|
|Chromosomal Location||67480921-67492104 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 67491677 bp (GRCm38)|
|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]|
AA Change: V235A
PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: V235A
AA Change: V238A
PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|Coding Region Coverage||
|Validation Efficiency||100% (59/59)|
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||
|Other mutations in Nat1||
(F):5'- TCAGAAGAGAGCAGTATGTTCC -3'
(R):5'- TGGAGAACAATTTTGCTCCTTACC -3'
(F):5'- GAATTTGTTAACTCAGACCTCCTTG -3'
(R):5'- ACAATTTTGCTCCTTACCCTAAATAG -3'