Incidental Mutation 'IGL02004:Nat1'
ID |
182216 |
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 # |
IGL02004
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
67943620-67945183 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 67943878 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 85
(E85K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026677]
[ENSMUST00000093470]
[ENSMUST00000163856]
[ENSMUST00000212171]
|
AlphaFold |
P50294 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026677
AA Change: E85K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000026677 Gene: ENSMUSG00000025588 AA Change: E85K
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 benign
Transcript: ENSMUST00000212171
AA Change: E88K
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
G |
T |
11: 72,082,423 (GRCm39) |
A301E |
possibly damaging |
Het |
C4b |
A |
T |
17: 34,957,984 (GRCm39) |
|
probably benign |
Het |
Cep85 |
A |
G |
4: 133,894,698 (GRCm39) |
V36A |
probably damaging |
Het |
Cnot10 |
A |
T |
9: 114,451,998 (GRCm39) |
F259L |
probably damaging |
Het |
Crim1 |
T |
C |
17: 78,680,004 (GRCm39) |
|
probably benign |
Het |
Crispld1 |
G |
A |
1: 17,817,744 (GRCm39) |
A216T |
probably damaging |
Het |
Cyp8b1 |
T |
C |
9: 121,744,058 (GRCm39) |
I425V |
probably benign |
Het |
Fat2 |
A |
T |
11: 55,173,666 (GRCm39) |
V2349D |
probably damaging |
Het |
Fer |
G |
T |
17: 64,231,174 (GRCm39) |
|
probably null |
Het |
Galnt3 |
T |
C |
2: 65,926,270 (GRCm39) |
T313A |
probably damaging |
Het |
Hsd3b9 |
T |
A |
3: 98,363,735 (GRCm39) |
R37W |
probably damaging |
Het |
Igkv10-94 |
A |
T |
6: 68,681,928 (GRCm39) |
L12* |
probably null |
Het |
Kcnj3 |
G |
A |
2: 55,327,243 (GRCm39) |
D11N |
probably benign |
Het |
Kit |
T |
A |
5: 75,781,674 (GRCm39) |
S368T |
probably benign |
Het |
Mark1 |
G |
A |
1: 184,644,786 (GRCm39) |
S390L |
possibly damaging |
Het |
Mpped1 |
C |
A |
15: 83,684,357 (GRCm39) |
S126R |
probably damaging |
Het |
Myh15 |
A |
C |
16: 48,930,892 (GRCm39) |
|
probably benign |
Het |
Or9q1 |
T |
C |
19: 13,805,427 (GRCm39) |
D111G |
possibly damaging |
Het |
Pde3b |
A |
T |
7: 114,118,852 (GRCm39) |
M664L |
possibly damaging |
Het |
Phrf1 |
A |
G |
7: 140,840,246 (GRCm39) |
D1147G |
probably benign |
Het |
Pth1r |
G |
T |
9: 110,571,376 (GRCm39) |
|
probably benign |
Het |
Shank3 |
C |
T |
15: 89,387,502 (GRCm39) |
|
probably benign |
Het |
Slc39a7 |
A |
C |
17: 34,250,095 (GRCm39) |
|
probably benign |
Het |
Slc6a1 |
A |
G |
6: 114,291,286 (GRCm39) |
T520A |
probably benign |
Het |
St3gal2 |
C |
A |
8: 111,696,804 (GRCm39) |
A317E |
probably damaging |
Het |
St3gal3 |
C |
A |
4: 117,817,236 (GRCm39) |
L139F |
possibly damaging |
Het |
Sval3 |
T |
A |
6: 41,949,776 (GRCm39) |
|
probably benign |
Het |
Syvn1 |
G |
A |
19: 6,102,437 (GRCm39) |
A502T |
probably benign |
Het |
Tm4sf1 |
T |
C |
3: 57,200,499 (GRCm39) |
I68V |
possibly damaging |
Het |
Tnrc6a |
T |
A |
7: 122,780,589 (GRCm39) |
N1326K |
possibly damaging |
Het |
Tvp23b |
G |
A |
11: 62,782,826 (GRCm39) |
C174Y |
probably damaging |
Het |
Zfp750 |
T |
C |
11: 121,402,975 (GRCm39) |
D591G |
probably benign |
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 |
IGL02054:Nat1
|
APN |
8 |
67,944,074 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |