Incidental Mutation 'R4200:Aadac'
ID |
318713 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aadac
|
Ensembl Gene |
ENSMUSG00000027761 |
Gene Name |
arylacetamide deacetylase |
Synonyms |
Aada, 5033417E09Rik |
MMRRC Submission |
041030-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4200 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
59939209-59947578 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 59946955 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 218
(Y218N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029325
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029325]
|
AlphaFold |
Q99PG0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029325
AA Change: Y218N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029325 Gene: ENSMUSG00000027761 AA Change: Y218N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:Abhydrolase_3
|
106 |
277 |
3.8e-41 |
PFAM |
Pfam:Abhydrolase_3
|
279 |
376 |
1.7e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151605
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194896
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
100% (40/40) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for arylamine and heterocyclic amine carcinogens [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox3 |
A |
G |
1: 58,227,537 (GRCm39) |
E1214G |
probably damaging |
Het |
Arhgap31 |
G |
A |
16: 38,444,275 (GRCm39) |
A194V |
probably damaging |
Het |
Asxl1 |
C |
A |
2: 153,242,026 (GRCm39) |
L859I |
possibly damaging |
Het |
C7 |
A |
G |
15: 5,019,791 (GRCm39) |
|
probably null |
Het |
Col6a3 |
C |
A |
1: 90,729,105 (GRCm39) |
V1279L |
probably benign |
Het |
Dnah3 |
C |
T |
7: 119,522,061 (GRCm39) |
G4033D |
probably damaging |
Het |
Etl4 |
C |
A |
2: 20,786,694 (GRCm39) |
H481Q |
probably damaging |
Het |
Foxg1 |
T |
A |
12: 49,432,082 (GRCm39) |
S272T |
possibly damaging |
Het |
Gm3336 |
A |
T |
8: 71,173,261 (GRCm39) |
D91V |
probably benign |
Het |
Hnf4g |
T |
G |
3: 3,716,344 (GRCm39) |
V256G |
possibly damaging |
Het |
Hyou1 |
G |
A |
9: 44,300,156 (GRCm39) |
R815H |
probably damaging |
Het |
Ifi203 |
A |
C |
1: 173,751,681 (GRCm39) |
I380S |
probably damaging |
Het |
Map2 |
C |
T |
1: 66,464,457 (GRCm39) |
R128C |
probably damaging |
Het |
Mboat7 |
C |
A |
7: 3,688,752 (GRCm39) |
A259S |
possibly damaging |
Het |
Mroh8 |
C |
T |
2: 157,083,730 (GRCm39) |
V381M |
probably benign |
Het |
Muc5b |
T |
A |
7: 141,412,662 (GRCm39) |
C1869* |
probably null |
Het |
Nfatc4 |
C |
T |
14: 56,069,489 (GRCm39) |
R672W |
probably damaging |
Het |
Nup210l |
T |
C |
3: 90,027,218 (GRCm39) |
I200T |
probably damaging |
Het |
Olr1 |
A |
G |
6: 129,479,068 (GRCm39) |
V50A |
probably damaging |
Het |
Or1i2 |
A |
T |
10: 78,447,901 (GRCm39) |
D191E |
possibly damaging |
Het |
Or51h7 |
A |
G |
7: 102,591,004 (GRCm39) |
F260S |
probably damaging |
Het |
Pcdhgb5 |
A |
G |
18: 37,865,035 (GRCm39) |
I277V |
possibly damaging |
Het |
Pknox1 |
C |
A |
17: 31,818,584 (GRCm39) |
N272K |
probably benign |
Het |
Psg23 |
T |
C |
7: 18,345,990 (GRCm39) |
D235G |
probably damaging |
Het |
Slc1a1 |
A |
G |
19: 28,878,852 (GRCm39) |
K197R |
probably benign |
Het |
Tgm2 |
C |
A |
2: 157,974,410 (GRCm39) |
R207L |
probably benign |
Het |
Trim29 |
G |
T |
9: 43,222,677 (GRCm39) |
E169* |
probably null |
Het |
Ttc24 |
T |
C |
3: 87,981,824 (GRCm39) |
T81A |
probably benign |
Het |
Ttll1 |
A |
T |
15: 83,376,778 (GRCm39) |
I315N |
probably damaging |
Het |
Ttll12 |
T |
C |
15: 83,461,214 (GRCm39) |
N602D |
probably damaging |
Het |
Vmn1r18 |
A |
T |
6: 57,367,101 (GRCm39) |
V151E |
probably benign |
Het |
Vmn2r100 |
T |
A |
17: 19,742,797 (GRCm39) |
D390E |
probably benign |
Het |
Zfp26 |
T |
C |
9: 20,348,012 (GRCm39) |
T851A |
probably benign |
Het |
Zfp58 |
T |
G |
13: 67,639,440 (GRCm39) |
R350S |
probably benign |
Het |
|
Other mutations in Aadac |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01085:Aadac
|
APN |
3 |
59,944,763 (GRCm39) |
splice site |
probably benign |
|
IGL01518:Aadac
|
APN |
3 |
59,943,320 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02480:Aadac
|
APN |
3 |
59,946,908 (GRCm39) |
missense |
probably benign |
0.12 |
IGL03164:Aadac
|
APN |
3 |
59,947,070 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03309:Aadac
|
APN |
3 |
59,947,303 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0383:Aadac
|
UTSW |
3 |
59,943,368 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0918:Aadac
|
UTSW |
3 |
59,946,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R1381:Aadac
|
UTSW |
3 |
59,947,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R1848:Aadac
|
UTSW |
3 |
59,947,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R1964:Aadac
|
UTSW |
3 |
59,944,759 (GRCm39) |
critical splice donor site |
probably null |
|
R2103:Aadac
|
UTSW |
3 |
59,947,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R2125:Aadac
|
UTSW |
3 |
59,947,066 (GRCm39) |
missense |
possibly damaging |
0.67 |
R2126:Aadac
|
UTSW |
3 |
59,947,066 (GRCm39) |
missense |
possibly damaging |
0.67 |
R2265:Aadac
|
UTSW |
3 |
59,944,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R2266:Aadac
|
UTSW |
3 |
59,944,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R2267:Aadac
|
UTSW |
3 |
59,944,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R4229:Aadac
|
UTSW |
3 |
59,939,234 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4361:Aadac
|
UTSW |
3 |
59,947,182 (GRCm39) |
missense |
probably benign |
|
R4750:Aadac
|
UTSW |
3 |
59,943,238 (GRCm39) |
missense |
probably benign |
|
R5367:Aadac
|
UTSW |
3 |
59,947,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R5383:Aadac
|
UTSW |
3 |
59,943,496 (GRCm39) |
intron |
probably benign |
|
R5536:Aadac
|
UTSW |
3 |
59,946,984 (GRCm39) |
missense |
probably benign |
0.12 |
R5907:Aadac
|
UTSW |
3 |
59,947,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R6641:Aadac
|
UTSW |
3 |
59,947,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R6805:Aadac
|
UTSW |
3 |
59,944,757 (GRCm39) |
missense |
probably benign |
0.30 |
R6979:Aadac
|
UTSW |
3 |
59,947,424 (GRCm39) |
missense |
probably benign |
0.01 |
R7224:Aadac
|
UTSW |
3 |
59,943,275 (GRCm39) |
missense |
probably benign |
0.13 |
R7606:Aadac
|
UTSW |
3 |
59,943,456 (GRCm39) |
critical splice donor site |
probably null |
|
R7745:Aadac
|
UTSW |
3 |
59,945,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R8793:Aadac
|
UTSW |
3 |
59,945,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R8829:Aadac
|
UTSW |
3 |
59,939,240 (GRCm39) |
missense |
probably benign |
0.01 |
R9408:Aadac
|
UTSW |
3 |
59,946,986 (GRCm39) |
missense |
probably benign |
0.33 |
R9796:Aadac
|
UTSW |
3 |
59,945,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTTAAATTGCAGAACCTCCCC -3'
(R):5'- AAGTGGCTAGATTCCATGGGTAC -3'
Sequencing Primer
(F):5'- AAACCACCCTACACTTTATATGTTG -3'
(R):5'- ACATGTTGGTTGAGAAGCATGGC -3'
|
Posted On |
2015-06-10 |