Incidental Mutation 'IGL03253:Aadacl4'
ID |
414577 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Aadacl4
|
Ensembl Gene |
ENSMUSG00000070609 |
Gene Name |
arylacetamide deacetylase like 4 |
Synonyms |
Gm13177 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
IGL03253
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
144340277-144349968 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 144349858 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 372
(V372L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092087
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094510]
|
AlphaFold |
B1AVU5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094510
AA Change: V372L
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000092087 Gene: ENSMUSG00000070609 AA Change: V372L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
28 |
N/A |
INTRINSIC |
transmembrane domain
|
43 |
60 |
N/A |
INTRINSIC |
Pfam:Abhydrolase_3
|
115 |
285 |
9.6e-30 |
PFAM |
Pfam:Abhydrolase_3
|
272 |
381 |
4.9e-11 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
A |
12: 71,187,657 (GRCm39) |
V98I |
probably benign |
Het |
Acp5 |
A |
T |
9: 22,039,083 (GRCm39) |
I210N |
probably damaging |
Het |
Ash1l |
G |
A |
3: 88,891,981 (GRCm39) |
A1287T |
probably damaging |
Het |
AU018091 |
A |
T |
7: 3,214,002 (GRCm39) |
C72S |
probably damaging |
Het |
Ccdc178 |
G |
A |
18: 21,978,068 (GRCm39) |
Q800* |
probably null |
Het |
Cd47 |
A |
T |
16: 49,714,561 (GRCm39) |
H190L |
probably benign |
Het |
Clca3a2 |
T |
A |
3: 144,777,324 (GRCm39) |
H849L |
probably benign |
Het |
Cmya5 |
G |
A |
13: 93,227,778 (GRCm39) |
Q2437* |
probably null |
Het |
Depdc5 |
T |
C |
5: 33,026,157 (GRCm39) |
|
probably benign |
Het |
Erp44 |
T |
A |
4: 48,208,750 (GRCm39) |
I237F |
probably benign |
Het |
Gramd1a |
C |
T |
7: 30,839,271 (GRCm39) |
W8* |
probably null |
Het |
Gucy2d |
C |
T |
7: 98,100,871 (GRCm39) |
A398V |
probably benign |
Het |
Hecw2 |
T |
C |
1: 53,871,875 (GRCm39) |
E1357G |
possibly damaging |
Het |
Ighv1-11 |
T |
C |
12: 114,579,468 (GRCm39) |
|
probably benign |
Het |
Itih3 |
A |
C |
14: 30,633,880 (GRCm39) |
|
probably null |
Het |
Kcnk5 |
A |
G |
14: 20,192,405 (GRCm39) |
V252A |
probably benign |
Het |
Kif14 |
A |
G |
1: 136,415,198 (GRCm39) |
E771G |
probably damaging |
Het |
Klc1 |
T |
C |
12: 111,748,078 (GRCm39) |
|
probably benign |
Het |
Myom3 |
A |
G |
4: 135,510,408 (GRCm39) |
E567G |
possibly damaging |
Het |
Or4a70 |
A |
G |
2: 89,324,143 (GRCm39) |
V171A |
possibly damaging |
Het |
Pfpl |
A |
G |
19: 12,407,393 (GRCm39) |
D548G |
probably damaging |
Het |
Psma5-ps |
A |
G |
10: 85,149,556 (GRCm39) |
|
noncoding transcript |
Het |
Rad54l2 |
A |
G |
9: 106,581,422 (GRCm39) |
V833A |
probably damaging |
Het |
Scnn1g |
A |
T |
7: 121,337,156 (GRCm39) |
K6* |
probably null |
Het |
Sun1 |
T |
C |
5: 139,209,341 (GRCm39) |
|
probably benign |
Het |
Synj2 |
A |
G |
17: 6,053,434 (GRCm39) |
|
probably null |
Het |
Ttc1 |
T |
A |
11: 43,629,650 (GRCm39) |
E172V |
probably benign |
Het |
Ttn |
A |
G |
2: 76,599,364 (GRCm39) |
V19215A |
probably damaging |
Het |
Vwa3a |
A |
G |
7: 120,378,092 (GRCm39) |
I461V |
probably benign |
Het |
Wdr73 |
A |
G |
7: 80,547,694 (GRCm39) |
M110T |
probably benign |
Het |
Zfand4 |
A |
T |
6: 116,261,770 (GRCm39) |
D111V |
probably damaging |
Het |
Zscan4f |
T |
A |
7: 11,135,270 (GRCm39) |
N225K |
probably benign |
Het |
|
Other mutations in Aadacl4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02648:Aadacl4
|
APN |
4 |
144,344,392 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02836:Aadacl4
|
APN |
4 |
144,349,782 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL02949:Aadacl4
|
APN |
4 |
144,344,490 (GRCm39) |
missense |
probably damaging |
1.00 |
white_rabbit
|
UTSW |
4 |
144,344,598 (GRCm39) |
missense |
probably benign |
0.03 |
R0035:Aadacl4
|
UTSW |
4 |
144,344,511 (GRCm39) |
missense |
probably damaging |
0.98 |
R0268:Aadacl4
|
UTSW |
4 |
144,349,565 (GRCm39) |
missense |
probably benign |
0.00 |
R1427:Aadacl4
|
UTSW |
4 |
144,349,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R1672:Aadacl4
|
UTSW |
4 |
144,349,889 (GRCm39) |
nonsense |
probably null |
|
R2220:Aadacl4
|
UTSW |
4 |
144,344,572 (GRCm39) |
missense |
probably damaging |
0.98 |
R2353:Aadacl4
|
UTSW |
4 |
144,349,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R2983:Aadacl4
|
UTSW |
4 |
144,349,784 (GRCm39) |
missense |
probably damaging |
0.98 |
R4708:Aadacl4
|
UTSW |
4 |
144,349,899 (GRCm39) |
missense |
probably benign |
0.01 |
R4878:Aadacl4
|
UTSW |
4 |
144,340,415 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4911:Aadacl4
|
UTSW |
4 |
144,340,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R5208:Aadacl4
|
UTSW |
4 |
144,344,398 (GRCm39) |
missense |
probably benign |
0.04 |
R5237:Aadacl4
|
UTSW |
4 |
144,349,850 (GRCm39) |
nonsense |
probably null |
|
R5568:Aadacl4
|
UTSW |
4 |
144,349,364 (GRCm39) |
missense |
probably benign |
0.03 |
R5633:Aadacl4
|
UTSW |
4 |
144,344,598 (GRCm39) |
missense |
probably benign |
0.03 |
R5817:Aadacl4
|
UTSW |
4 |
144,349,497 (GRCm39) |
missense |
probably benign |
0.04 |
R5848:Aadacl4
|
UTSW |
4 |
144,344,428 (GRCm39) |
missense |
probably benign |
0.11 |
R5916:Aadacl4
|
UTSW |
4 |
144,349,550 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6736:Aadacl4
|
UTSW |
4 |
144,349,909 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6814:Aadacl4
|
UTSW |
4 |
144,349,750 (GRCm39) |
missense |
probably benign |
0.07 |
R6872:Aadacl4
|
UTSW |
4 |
144,349,750 (GRCm39) |
missense |
probably benign |
0.07 |
R6971:Aadacl4
|
UTSW |
4 |
144,349,303 (GRCm39) |
missense |
probably damaging |
1.00 |
R6994:Aadacl4
|
UTSW |
4 |
144,349,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R7074:Aadacl4
|
UTSW |
4 |
144,340,433 (GRCm39) |
missense |
probably benign |
|
R7353:Aadacl4
|
UTSW |
4 |
144,344,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R7837:Aadacl4
|
UTSW |
4 |
144,344,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R7853:Aadacl4
|
UTSW |
4 |
144,344,592 (GRCm39) |
missense |
probably benign |
0.02 |
R8120:Aadacl4
|
UTSW |
4 |
144,349,460 (GRCm39) |
missense |
probably benign |
0.44 |
R8549:Aadacl4
|
UTSW |
4 |
144,349,726 (GRCm39) |
missense |
probably benign |
|
R9043:Aadacl4
|
UTSW |
4 |
144,349,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R9661:Aadacl4
|
UTSW |
4 |
144,340,287 (GRCm39) |
missense |
probably damaging |
0.96 |
X0017:Aadacl4
|
UTSW |
4 |
144,349,586 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Aadacl4
|
UTSW |
4 |
144,349,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2016-08-02 |