Incidental Mutation 'IGL02054:Nat1'
| ID |
185177 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nat1
|
| Ensembl Gene |
ENSMUSG00000025588 |
| Gene Name |
N-acetyl transferase 1 |
| Synonyms |
Nat-1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02054
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
67943620-67945183 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67944074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 153
(F153S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026677]
[ENSMUST00000093470]
[ENSMUST00000163856]
[ENSMUST00000212171]
|
| AlphaFold |
P50294 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026677
AA Change: F150S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026677
Gene: ENSMUSG00000025588
AA Change: F150S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acetyltransf_2
|
20 |
280 |
1e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093470
|
| SMART Domains |
Protein: ENSMUSP00000091181
Gene: ENSMUSG00000051147
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acetyltransf_2
|
20 |
280 |
3.6e-99 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163856
|
| SMART Domains |
Protein: ENSMUSP00000130065
Gene: ENSMUSG00000051147
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acetyltransf_2
|
20 |
280 |
3.3e-98 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212171
AA Change: F153S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
T |
11: 110,182,949 (GRCm39) |
P1036Q |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,261,253 (GRCm39) |
S163G |
probably benign |
Het |
| Camkk1 |
G |
A |
11: 72,916,708 (GRCm39) |
R102Q |
probably damaging |
Het |
| Caprin1 |
A |
C |
2: 103,602,143 (GRCm39) |
|
probably null |
Het |
| Cct8 |
A |
T |
16: 87,287,364 (GRCm39) |
|
probably benign |
Het |
| Dlgap2 |
A |
G |
8: 14,893,552 (GRCm39) |
M941V |
probably damaging |
Het |
| Dock7 |
C |
T |
4: 98,861,646 (GRCm39) |
R1327Q |
probably damaging |
Het |
| Fhip1b |
A |
G |
7: 105,033,630 (GRCm39) |
S529P |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,230,673 (GRCm39) |
D417G |
probably benign |
Het |
| Gemin2 |
G |
A |
12: 59,068,523 (GRCm39) |
|
probably null |
Het |
| Grk6 |
G |
T |
13: 55,602,210 (GRCm39) |
A346S |
probably benign |
Het |
| Gtf2h1 |
A |
G |
7: 46,464,849 (GRCm39) |
|
probably benign |
Het |
| Irak3 |
T |
A |
10: 120,012,164 (GRCm39) |
Q200L |
probably benign |
Het |
| Irx4 |
A |
G |
13: 73,416,947 (GRCm39) |
T448A |
probably damaging |
Het |
| Iws1 |
T |
C |
18: 32,223,595 (GRCm39) |
|
probably null |
Het |
| Kcnk18 |
G |
A |
19: 59,224,045 (GRCm39) |
|
probably benign |
Het |
| Klk1b11 |
C |
A |
7: 43,648,251 (GRCm39) |
S86Y |
possibly damaging |
Het |
| Lgals7 |
T |
C |
7: 28,565,614 (GRCm39) |
F136S |
probably damaging |
Het |
| Luc7l |
T |
A |
17: 26,498,314 (GRCm39) |
|
probably benign |
Het |
| Mta2 |
T |
A |
19: 8,928,276 (GRCm39) |
V525E |
probably benign |
Het |
| Mtnr1b |
G |
T |
9: 15,785,536 (GRCm39) |
A74E |
possibly damaging |
Het |
| Myo1c |
A |
G |
11: 75,551,962 (GRCm39) |
T354A |
probably benign |
Het |
| Oasl2 |
T |
C |
5: 115,035,867 (GRCm39) |
C48R |
probably damaging |
Het |
| Or4f60 |
T |
G |
2: 111,902,269 (GRCm39) |
I220L |
probably benign |
Het |
| Pkm |
C |
A |
9: 59,585,484 (GRCm39) |
R489S |
probably damaging |
Het |
| Pth2r |
T |
A |
1: 65,375,940 (GRCm39) |
I66N |
probably damaging |
Het |
| Slc25a18 |
T |
C |
6: 120,769,358 (GRCm39) |
|
probably null |
Het |
| Tnip3 |
T |
C |
6: 65,567,595 (GRCm39) |
S2P |
possibly damaging |
Het |
| Vmn2r61 |
T |
C |
7: 41,926,158 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Nat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation