Incidental Mutation 'IGL00953:Nat1'
ID28048
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nat1
Ensembl Gene ENSMUSG00000025588
Gene NameN-acetyl transferase 1
SynonymsNat-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00953
Quality Score
Status
Chromosome8
Chromosomal Location67480921-67492104 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 67490978 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 5 (D5G)
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: D2G

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000026677
Gene: ENSMUSG00000025588
AA Change: D2G

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: D5G

PolyPhen 2 Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 120,011,221 E726G probably benign Het
Cdyl2 T A 8: 116,595,189 probably benign Het
Cep41 T C 6: 30,660,967 T109A probably benign Het
Clca3b C T 3: 144,847,211 W84* probably null Het
Cyp27b1 A G 10: 127,049,682 D130G probably benign Het
Cyp2f2 T C 7: 27,129,817 V249A possibly damaging Het
Cyth3 G A 5: 143,707,165 probably null Het
Dnah8 G T 17: 30,706,457 E1289* probably null Het
Fam171a1 A T 2: 3,178,290 D51V possibly damaging Het
Farp2 A G 1: 93,561,174 R107G possibly damaging Het
Gemin6 T C 17: 80,227,865 F85L possibly damaging Het
Hivep3 A C 4: 120,098,374 T1296P probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Htt T A 5: 34,818,677 S670T probably benign Het
Klhl24 A T 16: 20,122,967 N555I possibly damaging Het
Limd1 T A 9: 123,479,883 S216T probably benign Het
Lmf2 A T 15: 89,353,899 I234N probably damaging Het
Mrpl4 C A 9: 21,008,567 D271E probably benign Het
Mydgf C T 17: 56,179,407 G75R probably damaging Het
Olfr178 A C 16: 58,889,685 H178Q probably damaging Het
Olfr190 A T 16: 59,074,689 Y130* probably null Het
Olfr325 T C 11: 58,581,810 V322A probably benign Het
Pla2g4c T A 7: 13,344,026 M363K probably benign Het
Prex1 A G 2: 166,638,409 F137S probably damaging Het
Rbm12b1 A G 4: 12,146,038 D670G probably damaging Het
Rrp12 C A 19: 41,871,792 M997I possibly damaging Het
Scn3a A G 2: 65,497,392 V918A probably benign Het
Slc35g2 A G 9: 100,552,463 V385A probably damaging Het
Slit1 A T 19: 41,602,300 I1311N probably damaging Het
Ube2j2 C T 4: 155,946,377 probably benign Het
Ucp2 A G 7: 100,498,422 T203A probably benign Het
Upk1b C T 16: 38,779,985 G211D possibly damaging Het
Vmn1r220 A T 13: 23,183,765 F254I probably benign Het
Zcchc4 T C 5: 52,808,296 F314S probably damaging Het
Other mutations in Nat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7164:Nat1 UTSW 8 67491677 missense possibly damaging 0.78
Posted On2013-04-17