Incidental Mutation 'IGL00953:Nat1'
ID |
28048 |
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 # |
IGL00953
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
67943620-67945183 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 67943630 bp (GRCm39)
|
Zygosity |
Heterozygous |
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]
|
AlphaFold |
P50294 |
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
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
T |
C |
11: 119,902,047 (GRCm39) |
E726G |
probably benign |
Het |
Cdyl2 |
T |
A |
8: 117,321,928 (GRCm39) |
|
probably benign |
Het |
Cep41 |
T |
C |
6: 30,660,966 (GRCm39) |
T109A |
probably benign |
Het |
Clca3b |
C |
T |
3: 144,552,972 (GRCm39) |
W84* |
probably null |
Het |
Cyp27b1 |
A |
G |
10: 126,885,551 (GRCm39) |
D130G |
probably benign |
Het |
Cyp2f2 |
T |
C |
7: 26,829,242 (GRCm39) |
V249A |
possibly damaging |
Het |
Cyth3 |
G |
A |
5: 143,692,920 (GRCm39) |
|
probably null |
Het |
Dnah8 |
G |
T |
17: 30,925,431 (GRCm39) |
E1289* |
probably null |
Het |
Fam171a1 |
A |
T |
2: 3,179,327 (GRCm39) |
D51V |
possibly damaging |
Het |
Farp2 |
A |
G |
1: 93,488,896 (GRCm39) |
R107G |
possibly damaging |
Het |
Gemin6 |
T |
C |
17: 80,535,294 (GRCm39) |
F85L |
possibly damaging |
Het |
Hivep3 |
A |
C |
4: 119,955,571 (GRCm39) |
T1296P |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Htt |
T |
A |
5: 34,976,021 (GRCm39) |
S670T |
probably benign |
Het |
Klhl24 |
A |
T |
16: 19,941,717 (GRCm39) |
N555I |
possibly damaging |
Het |
Limd1 |
T |
A |
9: 123,308,948 (GRCm39) |
S216T |
probably benign |
Het |
Lmf2 |
A |
T |
15: 89,238,102 (GRCm39) |
I234N |
probably damaging |
Het |
Mrpl4 |
C |
A |
9: 20,919,863 (GRCm39) |
D271E |
probably benign |
Het |
Mydgf |
C |
T |
17: 56,486,407 (GRCm39) |
G75R |
probably damaging |
Het |
Or2t46 |
T |
C |
11: 58,472,636 (GRCm39) |
V322A |
probably benign |
Het |
Or5h22 |
A |
T |
16: 58,895,052 (GRCm39) |
Y130* |
probably null |
Het |
Or5k15 |
A |
C |
16: 58,710,048 (GRCm39) |
H178Q |
probably damaging |
Het |
Pla2g4c |
T |
A |
7: 13,077,951 (GRCm39) |
M363K |
probably benign |
Het |
Prex1 |
A |
G |
2: 166,480,329 (GRCm39) |
F137S |
probably damaging |
Het |
Rbm12b1 |
A |
G |
4: 12,146,038 (GRCm39) |
D670G |
probably damaging |
Het |
Rrp12 |
C |
A |
19: 41,860,231 (GRCm39) |
M997I |
possibly damaging |
Het |
Scn3a |
A |
G |
2: 65,327,736 (GRCm39) |
V918A |
probably benign |
Het |
Slc35g2 |
A |
G |
9: 100,434,516 (GRCm39) |
V385A |
probably damaging |
Het |
Slit1 |
A |
T |
19: 41,590,739 (GRCm39) |
I1311N |
probably damaging |
Het |
Ube2j2 |
C |
T |
4: 156,030,834 (GRCm39) |
|
probably benign |
Het |
Ucp2 |
A |
G |
7: 100,147,629 (GRCm39) |
T203A |
probably benign |
Het |
Upk1b |
C |
T |
16: 38,600,347 (GRCm39) |
G211D |
possibly damaging |
Het |
Vmn1r220 |
A |
T |
13: 23,367,935 (GRCm39) |
F254I |
probably benign |
Het |
Zcchc4 |
T |
C |
5: 52,965,638 (GRCm39) |
F314S |
probably damaging |
Het |
|
Other mutations in Nat1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02004:Nat1
|
APN |
8 |
67,943,878 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
2013-04-17 |