Incidental Mutation 'R3545:Nat1'
| ID |
268169 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3545 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
67943620-67945183 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 67943684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 23
(D23G)
|
| 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: D20G
PolyPhen 2
Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000026677
Gene: ENSMUSG00000025588
AA Change: D20G
| 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: D23G
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| 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 |
|---|
| Ankrd28 |
A |
G |
14: 31,437,217 (GRCm39) |
L646S |
probably benign |
Het |
| Clip1 |
A |
G |
5: 123,769,141 (GRCm39) |
L532P |
probably damaging |
Het |
| Efl1 |
A |
T |
7: 82,412,018 (GRCm39) |
E802D |
probably benign |
Het |
| F11r |
T |
C |
1: 171,288,829 (GRCm39) |
V149A |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,870,095 (GRCm38) |
T125A |
probably benign |
Het |
| Fmn2 |
A |
G |
1: 174,330,192 (GRCm39) |
D194G |
unknown |
Het |
| Gdi1 |
T |
A |
X: 73,351,414 (GRCm39) |
F175L |
possibly damaging |
Het |
| Herc3 |
T |
C |
6: 58,833,670 (GRCm39) |
S186P |
probably damaging |
Het |
| Hexa |
A |
G |
9: 59,464,581 (GRCm39) |
N157S |
probably damaging |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Lig1 |
T |
A |
7: 13,026,089 (GRCm39) |
N281K |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 40,490,300 (GRCm39) |
L287H |
probably damaging |
Het |
| Mcf2 |
T |
C |
X: 59,180,806 (GRCm39) |
K74R |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
| Ncf1 |
T |
A |
5: 134,255,463 (GRCm39) |
K143* |
probably null |
Het |
| Nid2 |
T |
A |
14: 19,813,779 (GRCm39) |
Y195N |
probably damaging |
Het |
| Nlrp9a |
T |
C |
7: 26,256,757 (GRCm39) |
I125T |
probably benign |
Het |
| Nme7 |
T |
C |
1: 164,213,351 (GRCm39) |
F343S |
probably damaging |
Het |
| Otud4 |
A |
G |
8: 80,391,684 (GRCm39) |
E443G |
probably damaging |
Het |
| Palld |
G |
T |
8: 62,003,112 (GRCm39) |
A329E |
possibly damaging |
Het |
| Pask |
A |
T |
1: 93,244,837 (GRCm39) |
V1095D |
probably damaging |
Het |
| Pdzd2 |
C |
T |
15: 12,375,557 (GRCm39) |
R1526Q |
probably benign |
Het |
| Prkcq |
A |
G |
2: 11,288,627 (GRCm39) |
K527E |
probably benign |
Het |
| Ramac |
T |
A |
7: 81,418,270 (GRCm39) |
|
probably null |
Het |
| Reln |
A |
G |
5: 22,432,598 (GRCm39) |
V134A |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Septin9 |
T |
C |
11: 117,243,499 (GRCm39) |
I350T |
probably damaging |
Het |
| Slc16a7 |
T |
A |
10: 125,130,569 (GRCm39) |
K39* |
probably null |
Het |
| Spata32 |
T |
C |
11: 103,101,570 (GRCm39) |
E21G |
possibly damaging |
Het |
| Tbc1d1 |
G |
A |
5: 64,443,350 (GRCm39) |
R523Q |
probably damaging |
Het |
| Thnsl1 |
T |
G |
2: 21,217,438 (GRCm39) |
D397E |
probably benign |
Het |
| Tubal3 |
T |
G |
13: 3,983,560 (GRCm39) |
*447G |
probably null |
Het |
| Uprt |
T |
A |
X: 103,526,934 (GRCm39) |
L123H |
probably damaging |
Het |
| Usp9x |
T |
C |
X: 12,994,629 (GRCm39) |
L940P |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCAGTCAAAGTGATATGATTGCC -3'
(R):5'- TTTGGTCAGAGCCCAGTACAG -3'
Sequencing Primer
(F):5'- ATTGCCTATGAGATAGTTAGAGGC -3'
(R):5'- CCAGTACAGCAGATGATTAACCTGG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation