Incidental Mutation 'R0918:Aadac'
| ID |
81526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aadac
|
| Ensembl Gene |
ENSMUSG00000027761 |
| Gene Name |
arylacetamide deacetylase |
| Synonyms |
Aada, 5033417E09Rik |
| MMRRC Submission |
039068-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0918 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
59939209-59947578 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 59946953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Arginine
at position 217
(I217R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029325]
|
| AlphaFold |
Q99PG0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029325
AA Change: I217R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029325
Gene: ENSMUSG00000027761
AA Change: I217R
| 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 |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 96.2%
- 20x: 90.0%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp1 |
G |
T |
12: 30,955,126 (GRCm39) |
S20* |
probably null |
Het |
| Adcy3 |
A |
G |
12: 4,248,360 (GRCm39) |
D474G |
probably benign |
Het |
| Apob |
T |
C |
12: 8,033,941 (GRCm39) |
I217T |
probably benign |
Het |
| Cdh12 |
G |
A |
15: 21,492,685 (GRCm39) |
V235I |
probably damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,852,062 (GRCm39) |
T197S |
probably damaging |
Het |
| Cerkl |
A |
G |
2: 79,163,973 (GRCm39) |
I449T |
probably benign |
Het |
| Cpz |
A |
G |
5: 35,674,998 (GRCm39) |
Y84H |
probably damaging |
Het |
| Drosha |
T |
C |
15: 12,842,619 (GRCm39) |
|
probably null |
Het |
| Fbxo11 |
A |
T |
17: 88,305,031 (GRCm39) |
N613K |
probably damaging |
Het |
| Fes |
G |
T |
7: 80,030,953 (GRCm39) |
T536K |
probably damaging |
Het |
| Gm13941 |
G |
C |
2: 110,930,945 (GRCm39) |
T76R |
unknown |
Het |
| Lrp1 |
T |
C |
10: 127,429,834 (GRCm39) |
E412G |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,412,287 (GRCm39) |
I285V |
probably damaging |
Het |
| Map3k13 |
G |
A |
16: 21,744,990 (GRCm39) |
D850N |
probably damaging |
Het |
| Mapk4 |
C |
T |
18: 74,103,408 (GRCm39) |
V34M |
probably damaging |
Het |
| Morn1 |
T |
A |
4: 155,171,928 (GRCm39) |
W43R |
probably damaging |
Het |
| Ncan |
T |
G |
8: 70,561,039 (GRCm39) |
M643L |
possibly damaging |
Het |
| Npc1l1 |
G |
A |
11: 6,168,239 (GRCm39) |
T984M |
probably damaging |
Het |
| Or14c44 |
A |
G |
7: 86,062,403 (GRCm39) |
T278A |
probably benign |
Het |
| Or5a3 |
A |
G |
19: 12,400,599 (GRCm39) |
K309E |
probably benign |
Het |
| Or5ak4 |
A |
G |
2: 85,162,276 (GRCm39) |
|
probably benign |
Het |
| Or5p5 |
T |
C |
7: 107,414,418 (GRCm39) |
I209T |
probably benign |
Het |
| Pcdhb22 |
T |
C |
18: 37,653,067 (GRCm39) |
F255L |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,103,124 (GRCm39) |
D1697G |
possibly damaging |
Het |
| Pla2g12b |
A |
G |
10: 59,257,306 (GRCm39) |
D163G |
probably damaging |
Het |
| Pot1a |
G |
A |
6: 25,756,267 (GRCm39) |
T359M |
possibly damaging |
Het |
| Sass6 |
G |
A |
3: 116,397,172 (GRCm39) |
|
probably null |
Het |
| Scn1a |
C |
T |
2: 66,153,651 (GRCm39) |
|
probably null |
Het |
| Slc38a1 |
A |
G |
15: 96,507,743 (GRCm39) |
L103P |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,391,559 (GRCm39) |
|
probably null |
Het |
| Smarca4 |
C |
T |
9: 21,547,511 (GRCm39) |
P265S |
probably benign |
Het |
| Snrpa1 |
A |
G |
7: 65,720,363 (GRCm39) |
T189A |
probably benign |
Het |
| Snx11 |
G |
A |
11: 96,660,104 (GRCm39) |
P195L |
possibly damaging |
Het |
| Spen |
T |
G |
4: 141,212,875 (GRCm39) |
I584L |
unknown |
Het |
| Sult2a5 |
T |
A |
7: 13,359,334 (GRCm39) |
H103Q |
probably benign |
Het |
| Syce1 |
T |
C |
7: 140,360,436 (GRCm39) |
K50E |
probably damaging |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Tmem132a |
A |
G |
19: 10,835,477 (GRCm39) |
S1018P |
probably 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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAACCTTCTCAGGGTTACAGCTATG -3'
(R):5'- CAGGGAGCAAGGAACTCCAATTCAC -3'
Sequencing Primer
(F):5'- GGTTAAATTGCAGAACCTCCC -3'
(R):5'- ACTGTAACAAGTGGCTAGATTCC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation