Incidental Mutation 'IGL01777:Aadacl2'
| ID |
154124 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aadacl2
|
| Ensembl Gene |
ENSMUSG00000091376 |
| Gene Name |
arylacetamide deacetylase like 2 |
| Synonyms |
EG639634 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL01777
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
59914164-59932841 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59932205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 240
(V240A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169794]
|
| AlphaFold |
B2RWD2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169794
AA Change: V240A
PolyPhen 2
Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000129444
Gene: ENSMUSG00000091376
AA Change: V240A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:COesterase
|
91 |
219 |
2.7e-7 |
PFAM |
|
Pfam:Abhydrolase_3
|
107 |
272 |
8.2e-38 |
PFAM |
|
Pfam:Abhydrolase_3
|
270 |
375 |
3.2e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194896
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195422
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aftph |
A |
T |
11: 20,676,554 (GRCm39) |
C352S |
possibly damaging |
Het |
| Cand2 |
T |
C |
6: 115,769,818 (GRCm39) |
V876A |
probably damaging |
Het |
| Ccar1 |
T |
C |
10: 62,616,356 (GRCm39) |
I125V |
possibly damaging |
Het |
| Celsr3 |
A |
T |
9: 108,713,141 (GRCm39) |
M1858L |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,561,594 (GRCm39) |
N2134K |
probably benign |
Het |
| Dhx29 |
A |
G |
13: 113,067,406 (GRCm39) |
I96V |
probably benign |
Het |
| Dst |
A |
G |
1: 34,238,478 (GRCm39) |
T3727A |
probably benign |
Het |
| Elavl4 |
T |
A |
4: 110,063,858 (GRCm39) |
|
probably null |
Het |
| Eno2 |
C |
T |
6: 124,743,600 (GRCm39) |
G113D |
probably damaging |
Het |
| Esf1 |
A |
C |
2: 139,999,092 (GRCm39) |
|
probably null |
Het |
| Frmd4b |
T |
C |
6: 97,272,905 (GRCm39) |
D783G |
probably benign |
Het |
| Grin2a |
C |
T |
16: 9,461,994 (GRCm39) |
V713I |
probably benign |
Het |
| Impa1 |
C |
T |
3: 10,388,008 (GRCm39) |
G138D |
probably damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,523,736 (GRCm39) |
T1079A |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,760,302 (GRCm39) |
S549P |
probably damaging |
Het |
| Magoh |
C |
A |
4: 107,740,373 (GRCm39) |
Q86K |
probably benign |
Het |
| Moxd1 |
C |
A |
10: 24,128,494 (GRCm39) |
T182K |
probably benign |
Het |
| Or5p55 |
A |
G |
7: 107,566,709 (GRCm39) |
Y35C |
probably damaging |
Het |
| Pramel25 |
T |
G |
4: 143,521,688 (GRCm39) |
C435G |
possibly damaging |
Het |
| Rab3b |
A |
T |
4: 108,786,607 (GRCm39) |
Q119L |
probably damaging |
Het |
| Snap47 |
T |
A |
11: 59,312,477 (GRCm39) |
|
probably null |
Het |
| Taar3 |
A |
G |
10: 23,825,903 (GRCm39) |
R150G |
probably benign |
Het |
| Tas2r102 |
C |
T |
6: 132,739,815 (GRCm39) |
T241I |
probably damaging |
Het |
| Tas2r114 |
C |
T |
6: 131,666,664 (GRCm39) |
W121* |
probably null |
Het |
| Trak1 |
G |
A |
9: 121,260,626 (GRCm39) |
|
probably null |
Het |
| Ubn1 |
T |
C |
16: 4,890,013 (GRCm39) |
V426A |
possibly damaging |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,204 (GRCm39) |
L7P |
probably benign |
Het |
| Vmn2r43 |
T |
C |
7: 8,258,272 (GRCm39) |
I314V |
probably damaging |
Het |
| Vrtn |
T |
G |
12: 84,695,696 (GRCm39) |
S149A |
probably benign |
Het |
|
| Other mutations in Aadacl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01543:Aadacl2
|
APN |
3 |
59,932,097 (GRCm39) |
missense |
probably benign |
|
|
IGL01626:Aadacl2
|
APN |
3 |
59,926,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02189:Aadacl2
|
APN |
3 |
59,932,609 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03238:Aadacl2
|
APN |
3 |
59,932,339 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0369:Aadacl2
|
UTSW |
3 |
59,932,143 (GRCm39) |
nonsense |
probably null |
|
|
R0540:Aadacl2
|
UTSW |
3 |
59,926,627 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1440:Aadacl2
|
UTSW |
3 |
59,932,313 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1589:Aadacl2
|
UTSW |
3 |
59,917,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1778:Aadacl2
|
UTSW |
3 |
59,924,871 (GRCm39) |
splice site |
probably null |
|
|
R1781:Aadacl2
|
UTSW |
3 |
59,932,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1812:Aadacl2
|
UTSW |
3 |
59,932,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2411:Aadacl2
|
UTSW |
3 |
59,924,844 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4622:Aadacl2
|
UTSW |
3 |
59,914,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4698:Aadacl2
|
UTSW |
3 |
59,932,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5326:Aadacl2
|
UTSW |
3 |
59,932,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5542:Aadacl2
|
UTSW |
3 |
59,932,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6314:Aadacl2
|
UTSW |
3 |
59,924,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6469:Aadacl2
|
UTSW |
3 |
59,932,210 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6953:Aadacl2
|
UTSW |
3 |
59,932,181 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7082:Aadacl2
|
UTSW |
3 |
59,932,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7206:Aadacl2
|
UTSW |
3 |
59,932,662 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7967:Aadacl2
|
UTSW |
3 |
59,932,169 (GRCm39) |
missense |
probably benign |
|
|
R8000:Aadacl2
|
UTSW |
3 |
59,924,796 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8731:Aadacl2
|
UTSW |
3 |
59,932,367 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8855:Aadacl2
|
UTSW |
3 |
59,914,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8866:Aadacl2
|
UTSW |
3 |
59,914,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8979:Aadacl2
|
UTSW |
3 |
59,932,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9287:Aadacl2
|
UTSW |
3 |
59,932,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9674:Aadacl2
|
UTSW |
3 |
59,914,472 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Posted On |
2014-02-04 |
Incidental Mutation