Incidental Mutation 'R5536:Aadac'
ID |
434813 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aadac
|
Ensembl Gene |
ENSMUSG00000027761 |
Gene Name |
arylacetamide deacetylase |
Synonyms |
Aada, 5033417E09Rik |
MMRRC Submission |
043094-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5536 (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 59946984 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 227
(N227K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029325
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029325]
|
AlphaFold |
Q99PG0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029325
AA Change: N227K
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000029325 Gene: ENSMUSG00000027761 AA Change: N227K
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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.0%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
G |
T |
3: 137,772,149 (GRCm39) |
G446V |
possibly damaging |
Het |
Acap1 |
C |
T |
11: 69,780,133 (GRCm39) |
G74R |
probably benign |
Het |
Adrm1 |
A |
G |
2: 179,813,981 (GRCm39) |
|
probably benign |
Het |
Appl1 |
G |
C |
14: 26,645,737 (GRCm39) |
S691* |
probably null |
Het |
Atp2a2 |
T |
C |
5: 122,595,245 (GRCm39) |
D1035G |
probably benign |
Het |
AW551984 |
A |
G |
9: 39,504,169 (GRCm39) |
I599T |
probably benign |
Het |
Col23a1 |
C |
A |
11: 51,458,776 (GRCm39) |
D304E |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,338,674 (GRCm39) |
R478G |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,464,412 (GRCm39) |
N3660D |
probably benign |
Het |
Drosha |
T |
A |
15: 12,929,797 (GRCm39) |
Y1331N |
possibly damaging |
Het |
E2f6 |
T |
G |
12: 16,874,685 (GRCm39) |
S256A |
probably benign |
Het |
Evc |
A |
G |
5: 37,483,927 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,817,403 (GRCm39) |
I4379F |
probably benign |
Het |
Galnt2 |
T |
C |
8: 125,050,412 (GRCm39) |
C91R |
probably damaging |
Het |
Gm3095 |
G |
T |
14: 15,170,371 (GRCm39) |
M73I |
probably benign |
Het |
Gpr179 |
T |
A |
11: 97,234,641 (GRCm39) |
Q480L |
probably damaging |
Het |
Gucy2g |
T |
A |
19: 55,226,359 (GRCm39) |
I186F |
probably benign |
Het |
Hmcn1 |
T |
A |
1: 150,631,042 (GRCm39) |
I919F |
probably benign |
Het |
Kdm3a |
A |
C |
6: 71,588,920 (GRCm39) |
V363G |
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Lama5 |
C |
T |
2: 179,831,142 (GRCm39) |
R1839H |
probably damaging |
Het |
Lpo |
T |
C |
11: 87,707,389 (GRCm39) |
D208G |
probably damaging |
Het |
Lpp |
A |
G |
16: 24,663,956 (GRCm39) |
D411G |
possibly damaging |
Het |
Marco |
T |
C |
1: 120,432,464 (GRCm39) |
S8G |
possibly damaging |
Het |
Mthfr |
T |
C |
4: 148,128,940 (GRCm39) |
F171S |
probably damaging |
Het |
Nlrx1 |
A |
T |
9: 44,175,183 (GRCm39) |
S198T |
probably damaging |
Het |
Nol10 |
C |
A |
12: 17,466,138 (GRCm39) |
S511* |
probably null |
Het |
Nup153 |
T |
C |
13: 46,836,485 (GRCm39) |
T1375A |
probably benign |
Het |
Obscn |
A |
G |
11: 58,998,697 (GRCm39) |
S1367P |
probably damaging |
Het |
Or4x6 |
A |
G |
2: 89,949,183 (GRCm39) |
V253A |
probably benign |
Het |
Pcdha7 |
G |
A |
18: 37,108,303 (GRCm39) |
V443M |
probably damaging |
Het |
Plekha1 |
G |
T |
7: 130,511,331 (GRCm39) |
R305I |
probably damaging |
Het |
Psmb2 |
T |
A |
4: 126,578,002 (GRCm39) |
I60N |
probably damaging |
Het |
Rad17 |
C |
A |
13: 100,767,612 (GRCm39) |
G330C |
probably damaging |
Het |
Slc5a6 |
A |
G |
5: 31,200,446 (GRCm39) |
S80P |
probably damaging |
Het |
Srgap2 |
T |
A |
1: 131,228,128 (GRCm39) |
|
probably null |
Het |
Taf8 |
C |
A |
17: 47,805,407 (GRCm39) |
R164L |
possibly damaging |
Het |
Tmem87a |
C |
A |
2: 120,227,911 (GRCm39) |
D79Y |
probably damaging |
Het |
Tmtc4 |
G |
A |
14: 123,170,291 (GRCm39) |
R574W |
probably benign |
Het |
Tprn |
G |
A |
2: 25,153,369 (GRCm39) |
A224T |
probably benign |
Het |
Usf3 |
A |
G |
16: 44,037,733 (GRCm39) |
T738A |
probably benign |
Het |
Vmn2r54 |
A |
C |
7: 12,366,343 (GRCm39) |
V197G |
probably benign |
Het |
Zbtb40 |
G |
T |
4: 136,714,642 (GRCm39) |
P1049Q |
probably damaging |
Het |
Zfp551 |
A |
T |
7: 12,149,488 (GRCm39) |
S640R |
possibly damaging |
Het |
Zfp932 |
T |
A |
5: 110,157,713 (GRCm39) |
C470* |
probably null |
Het |
Zkscan8 |
T |
C |
13: 21,710,838 (GRCm39) |
I91V |
probably damaging |
Het |
Zmat4 |
T |
C |
8: 24,238,508 (GRCm39) |
V30A |
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 |
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 |
|
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'- TCTCTCAGGGAGCAAGGAACTC -3'
Sequencing Primer
(F):5'- AAACCACCCTACACTTTATATGTTG -3'
(R):5'- TCCAATTCACAAACTGTAACAAGTGG -3'
|
Posted On |
2016-10-24 |