Incidental Mutation 'IGL01518:Aadac'
ID |
89372 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Aadac
|
Ensembl Gene |
ENSMUSG00000027761 |
Gene Name |
arylacetamide deacetylase |
Synonyms |
Aada, 5033417E09Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01518
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
59939209-59947578 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 59943320 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 75
(D75G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029325
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029325]
|
AlphaFold |
Q99PG0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029325
AA Change: D75G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029325 Gene: ENSMUSG00000027761 AA Change: D75G
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447F04Rik |
A |
C |
X: 65,347,660 (GRCm39) |
V16G |
unknown |
Het |
4933427I04Rik |
A |
T |
4: 123,754,494 (GRCm39) |
E136V |
probably benign |
Het |
Arfgap1 |
T |
A |
2: 180,614,518 (GRCm39) |
S125T |
probably benign |
Het |
Atxn2 |
G |
T |
5: 121,949,042 (GRCm39) |
A813S |
probably damaging |
Het |
Cadps |
C |
A |
14: 12,522,352 (GRCm38) |
S604I |
probably damaging |
Het |
Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
Col4a4 |
T |
A |
1: 82,433,480 (GRCm39) |
M1488L |
unknown |
Het |
Fndc3c1 |
T |
C |
X: 105,475,029 (GRCm39) |
N941S |
probably damaging |
Het |
Fryl |
T |
C |
5: 73,244,305 (GRCm39) |
Y1172C |
possibly damaging |
Het |
Gm1527 |
T |
C |
3: 28,949,737 (GRCm39) |
|
probably benign |
Het |
Hsf2 |
T |
C |
10: 57,388,230 (GRCm39) |
L458P |
probably damaging |
Het |
Il2 |
T |
C |
3: 37,177,156 (GRCm39) |
T127A |
possibly damaging |
Het |
Inpp5e |
A |
G |
2: 26,287,946 (GRCm39) |
Y617H |
probably damaging |
Het |
Isoc2b |
G |
A |
7: 4,853,763 (GRCm39) |
S137F |
probably damaging |
Het |
Map2 |
C |
T |
1: 66,464,490 (GRCm39) |
P241S |
probably damaging |
Het |
Mfsd6 |
C |
A |
1: 52,748,481 (GRCm39) |
R128L |
probably damaging |
Het |
Mrnip |
A |
G |
11: 50,088,462 (GRCm39) |
T153A |
probably damaging |
Het |
Or4x6 |
A |
G |
2: 89,949,315 (GRCm39) |
F209S |
possibly damaging |
Het |
Or8d1 |
A |
T |
9: 38,767,095 (GRCm39) |
M246L |
probably benign |
Het |
Pi4ka |
T |
C |
16: 17,098,599 (GRCm39) |
N2022S |
probably benign |
Het |
Scrt2 |
C |
A |
2: 151,935,560 (GRCm39) |
R238S |
probably damaging |
Het |
St3gal6 |
T |
A |
16: 58,305,138 (GRCm39) |
D108V |
probably benign |
Het |
Tmem132b |
C |
T |
5: 125,855,855 (GRCm39) |
T529M |
probably damaging |
Het |
Trappc11 |
T |
C |
8: 47,954,904 (GRCm39) |
|
probably null |
Het |
Tspyl1 |
T |
A |
10: 34,159,195 (GRCm39) |
S307T |
possibly damaging |
Het |
Ush2a |
A |
G |
1: 188,131,982 (GRCm39) |
S735G |
probably benign |
Het |
Wnk2 |
T |
C |
13: 49,221,668 (GRCm39) |
M1186V |
possibly damaging |
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 |
|
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 |
R4200:Aadac
|
UTSW |
3 |
59,946,955 (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 |
|
Posted On |
2013-12-03 |