Incidental Mutation 'IGL03309:Aadac'
| ID |
416491 |
| 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 # |
IGL03309
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
59939209-59947578 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59947303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 334
(T334A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029325]
|
| AlphaFold |
Q99PG0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029325
AA Change: T334A
PolyPhen 2
Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029325
Gene: ENSMUSG00000027761
AA Change: T334A
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc9 |
A |
G |
1: 86,202,155 (GRCm39) |
E771G |
possibly damaging |
Het |
| Cd207 |
G |
T |
6: 83,654,735 (GRCm39) |
T16K |
possibly damaging |
Het |
| Cd44 |
C |
T |
2: 102,644,522 (GRCm39) |
E421K |
probably damaging |
Het |
| Cfap221 |
A |
G |
1: 119,862,331 (GRCm39) |
Y584H |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,379,241 (GRCm39) |
|
probably null |
Het |
| Clpx |
T |
G |
9: 65,229,974 (GRCm39) |
L474R |
probably damaging |
Het |
| Cntd1 |
T |
C |
11: 101,175,590 (GRCm39) |
V143A |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,381,035 (GRCm39) |
V877A |
probably damaging |
Het |
| Dlx6 |
G |
T |
6: 6,867,289 (GRCm39) |
M158I |
possibly damaging |
Het |
| Fank1 |
A |
G |
7: 133,463,902 (GRCm39) |
T33A |
probably damaging |
Het |
| Fbf1 |
A |
G |
11: 116,038,637 (GRCm39) |
L828P |
probably damaging |
Het |
| Fh1 |
A |
T |
1: 175,431,609 (GRCm39) |
S426T |
probably benign |
Het |
| Gabrg3 |
G |
T |
7: 56,632,433 (GRCm39) |
Q172K |
probably damaging |
Het |
| Glipr1l1 |
A |
G |
10: 111,908,141 (GRCm39) |
|
probably benign |
Het |
| Hypk |
T |
A |
2: 121,288,673 (GRCm39) |
L113* |
probably null |
Het |
| Hypk |
G |
T |
2: 121,288,674 (GRCm39) |
L113F |
probably damaging |
Het |
| Ipo5 |
G |
A |
14: 121,157,416 (GRCm39) |
V85I |
probably benign |
Het |
| Kif1a |
A |
T |
1: 92,986,579 (GRCm39) |
Y575* |
probably null |
Het |
| Morf4l1 |
T |
A |
9: 89,985,798 (GRCm39) |
E60V |
probably benign |
Het |
| Or52ac1 |
A |
G |
7: 104,246,248 (GRCm39) |
F47L |
probably benign |
Het |
| Or6c6 |
A |
T |
10: 129,187,178 (GRCm39) |
T249S |
probably benign |
Het |
| Parp4 |
A |
T |
14: 56,825,265 (GRCm39) |
T130S |
probably benign |
Het |
| Prkd1 |
A |
G |
12: 50,435,207 (GRCm39) |
Y507H |
probably damaging |
Het |
| Psme2b |
A |
C |
11: 48,836,626 (GRCm39) |
|
probably null |
Het |
| Rbm44 |
T |
C |
1: 91,096,562 (GRCm39) |
|
probably null |
Het |
| Rngtt |
C |
A |
4: 33,339,091 (GRCm39) |
R299S |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,994,357 (GRCm39) |
S1308P |
possibly damaging |
Het |
| Rpl3l |
A |
G |
17: 24,954,998 (GRCm39) |
K398E |
possibly damaging |
Het |
| Scube3 |
C |
T |
17: 28,383,331 (GRCm39) |
R374* |
probably null |
Het |
| Srcap |
A |
G |
7: 127,129,965 (GRCm39) |
T616A |
probably damaging |
Het |
| Stk3 |
G |
A |
15: 35,099,697 (GRCm39) |
|
probably benign |
Het |
| Tas2r124 |
A |
T |
6: 132,731,898 (GRCm39) |
D69V |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,359,816 (GRCm39) |
|
probably null |
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 |
|
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 |
2016-08-02 |
Incidental Mutation