Incidental Mutation 'R7108:Nat1'
ID 551327
Institutional Source Beutler Lab
Gene Symbol Nat1
Ensembl Gene ENSMUSG00000025588
Gene Name N-acetyl transferase 1
Synonyms Nat-1
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R7108 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 67480921-67492104 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67491020 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 19 (V19A)
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: V16A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026677
Gene: ENSMUSG00000025588
AA Change: V16A

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: V19A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T C 11: 58,880,924 S411P probably damaging Het
4930503L19Rik A T 18: 70,468,476 Y112N probably benign Het
Abcd2 A T 15: 91,191,274 V112E probably benign Het
Acadm A T 3: 153,925,800 Y353* probably null Het
Adra2c A G 5: 35,279,998 D38G probably benign Het
Ankrd10 C T 8: 11,612,624 G370R probably damaging Het
Arfgef2 T A 2: 166,873,608 N1324K possibly damaging Het
Atp6v1b2 A G 8: 69,102,501 T172A probably damaging Het
BC003331 T C 1: 150,382,290 Y198C probably benign Het
Bloc1s1 T A 10: 128,922,723 K22M possibly damaging Het
Brpf3 A G 17: 28,817,125 T599A probably benign Het
Cacna1e TTCCAGTCTC TTC 1: 154,468,995 probably null Het
Casc1 G A 6: 145,185,865 Q351* probably null Het
Ccdc186 T C 19: 56,798,760 D592G probably damaging Het
Cfap161 A T 7: 83,793,310 D98E possibly damaging Het
Cfi G A 3: 129,875,016 V564M probably damaging Het
Cilp2 T A 8: 69,881,129 Q1073L probably damaging Het
Cox6b1 A G 7: 30,623,504 C40R possibly damaging Het
Cyp3a59 A T 5: 146,096,333 M172L probably benign Het
Cyth1 T C 11: 118,182,913 D198G probably damaging Het
Daam2 T C 17: 49,460,674 D963G probably damaging Het
Ddi2 A T 4: 141,705,937 D209E probably benign Het
Dnah12 G A 14: 26,778,912 probably null Het
Dpagt1 G T 9: 44,327,021 probably benign Het
Drc3 T A 11: 60,370,554 F177Y probably benign Het
Dsg2 T C 18: 20,601,863 V966A probably damaging Het
E430018J23Rik A G 7: 127,391,523 S431P probably benign Het
E4f1 A G 17: 24,444,578 V633A probably damaging Het
Eif2ak2 T A 17: 78,858,536 R411* probably null Het
Frem2 T C 3: 53,653,513 E1191G probably damaging Het
Fry T C 5: 150,395,786 V972A probably damaging Het
Fry T A 5: 150,491,090 C467S Het
Fscn1 T C 5: 142,960,515 Y23H probably damaging Het
Gm16506 T A 14: 43,724,302 I163F Het
Gm21103 T C 14: 6,303,774 Y92C probably damaging Het
Golgb1 A G 16: 36,913,721 H1151R probably benign Het
Gprc5c T C 11: 114,864,282 Y262H probably damaging Het
Hc G T 2: 35,039,694 N245K probably benign Het
Hps6 T A 19: 46,005,490 L622Q probably damaging Het
Hsd17b1 T C 11: 101,079,209 Y156H probably damaging Het
Ireb2 T A 9: 54,906,641 F799L probably damaging Het
Irf1 A G 11: 53,774,412 D205G probably damaging Het
Kif12 A T 4: 63,171,205 F103L probably benign Het
Krt12 C T 11: 99,416,052 V475M unknown Het
Lca5 T A 9: 83,423,169 T195S probably benign Het
Lrrc17 T C 5: 21,575,339 V437A possibly damaging Het
Malt1 G T 18: 65,464,051 D468Y probably damaging Het
Man2b2 C T 5: 36,815,485 A562T probably benign Het
Mrc1 C T 2: 14,304,146 Q794* probably null Het
Muc16 T A 9: 18,655,233 I1997L unknown Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,634,450 probably null Het
Mycbp2 A T 14: 103,122,603 F4518Y probably damaging Het
Myo5a T A 9: 75,129,992 I159N probably damaging Het
Ndst4 A G 3: 125,561,471 T343A probably damaging Het
Nlrp9b A T 7: 20,045,930 L839F probably damaging Het
Nxnl1 A G 8: 71,566,554 I9T probably benign Het
Olfr1351 C A 10: 79,017,649 S109* probably null Het
Olfr331 T A 11: 58,502,554 M7L probably benign Het
Olfr364-ps1 C T 2: 37,146,260 T16I probably benign Het
Olfr548-ps1 A T 7: 102,541,992 I19F probably damaging Het
Olfr693 G A 7: 106,678,048 A146V probably benign Het
Pou5f2 T C 13: 78,025,265 S109P possibly damaging Het
Prkcz G A 4: 155,286,793 Q321* probably null Het
Prr18 G T 17: 8,341,531 R173L probably damaging Het
Ralgapb T C 2: 158,492,460 Y1364H probably damaging Het
Ralgapb A T 2: 158,494,662 I1407F probably damaging Het
Sacs T A 14: 61,211,009 Y3501* probably null Het
Sall3 G A 18: 80,973,754 P320S probably benign Het
Scn8a A T 15: 101,039,778 H1676L probably benign Het
Shmt1 T C 11: 60,798,644 D178G probably damaging Het
Slmap T C 14: 26,422,521 K737R probably benign Het
Ssh2 G A 11: 77,454,794 V1202I probably benign Het
Stard7 A G 2: 127,295,494 D288G possibly damaging Het
Tek A T 4: 94,853,487 D827V probably damaging Het
Tfap2e A G 4: 126,720,563 L276P probably damaging Het
Tns3 T C 11: 8,437,251 N1312S probably benign Het
Tubd1 T A 11: 86,557,805 S315T probably damaging Het
Ube2f T A 1: 91,265,219 C50* probably null Het
Vmn2r109 T C 17: 20,564,744 I5V probably benign Het
Vmn2r39 T C 7: 9,023,668 T445A probably 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
R7164:Nat1 UTSW 8 67491677 missense possibly damaging 0.78
R8199:Nat1 UTSW 8 67490998 missense probably damaging 0.98
R8724:Nat1 UTSW 8 67491791 missense probably damaging 0.99
R8993:Nat1 UTSW 8 67491742 missense probably benign 0.01
R9054:Nat1 UTSW 8 67491071 missense probably benign 0.00
Z1177:Nat1 UTSW 8 67491713 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCAGTCAAAGTGATATGATTGCC -3'
(R):5'- ATTTTGGTCAGAGCCCAGTACAG -3'

Sequencing Primer
(F):5'- ATTGCCTATGAGATAGTTAGAGGC -3'
(R):5'- CCAGTACAGCAGATGATTAACCTGG -3'
Posted On 2019-05-15