Incidental Mutation 'IGL02949:Aadacl4'
| ID |
364885 |
| 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: 0.053)
|
| Stock # |
IGL02949
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
144340277-144349968 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 144344490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 89
(V89I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094510]
|
| AlphaFold |
B1AVU5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094510
AA Change: V89I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000092087
Gene: ENSMUSG00000070609
AA Change: V89I
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
T |
C |
9: 122,206,980 (GRCm39) |
F89L |
possibly damaging |
Het |
| Akr1c13 |
T |
A |
13: 4,248,593 (GRCm39) |
V266E |
probably damaging |
Het |
| B4galt2 |
C |
T |
4: 117,738,602 (GRCm39) |
A72T |
probably benign |
Het |
| Ccdc141 |
T |
C |
2: 76,857,938 (GRCm39) |
Y1081C |
probably damaging |
Het |
| Coq8b |
T |
C |
7: 26,956,038 (GRCm39) |
V405A |
possibly damaging |
Het |
| Ddah2 |
A |
G |
17: 35,280,776 (GRCm39) |
K251E |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,272,331 (GRCm39) |
V1045A |
probably benign |
Het |
| Dpy19l1 |
A |
T |
9: 24,332,476 (GRCm39) |
M662K |
probably benign |
Het |
| Dpys |
A |
G |
15: 39,690,279 (GRCm39) |
V358A |
probably damaging |
Het |
| H2-D1 |
A |
G |
17: 35,483,064 (GRCm39) |
N198S |
probably benign |
Het |
| Hnrnpa1 |
T |
C |
15: 103,150,538 (GRCm39) |
V163A |
probably damaging |
Het |
| Hr |
C |
T |
14: 70,797,225 (GRCm39) |
R543C |
possibly damaging |
Het |
| Lct |
C |
T |
1: 128,240,869 (GRCm39) |
V245M |
probably benign |
Het |
| Lpl |
G |
A |
8: 69,345,400 (GRCm39) |
V135M |
probably damaging |
Het |
| Mblac1 |
T |
A |
5: 138,193,119 (GRCm39) |
C154S |
probably benign |
Het |
| Mmp9 |
T |
C |
2: 164,793,039 (GRCm39) |
F396S |
probably damaging |
Het |
| Mroh1 |
A |
T |
15: 76,293,168 (GRCm39) |
H314L |
probably damaging |
Het |
| Msantd4 |
T |
A |
9: 4,385,196 (GRCm39) |
L307Q |
probably damaging |
Het |
| Nol8 |
A |
G |
13: 49,815,878 (GRCm39) |
D662G |
probably benign |
Het |
| Nynrin |
G |
A |
14: 56,109,837 (GRCm39) |
S1648N |
probably damaging |
Het |
| Or52a20 |
A |
G |
7: 103,366,427 (GRCm39) |
I209V |
probably benign |
Het |
| Plcb2 |
C |
T |
2: 118,549,590 (GRCm39) |
|
probably null |
Het |
| Scyl2 |
T |
A |
10: 89,496,163 (GRCm39) |
N229I |
possibly damaging |
Het |
| Spryd3 |
C |
T |
15: 102,026,544 (GRCm39) |
E376K |
probably benign |
Het |
| Srr |
T |
G |
11: 74,799,563 (GRCm39) |
E304A |
probably benign |
Het |
| Srsf1 |
A |
G |
11: 87,940,352 (GRCm39) |
|
probably benign |
Het |
| Txnrd2 |
T |
G |
16: 18,296,456 (GRCm39) |
S473A |
probably benign |
Het |
| Wdr18 |
T |
A |
10: 79,800,889 (GRCm39) |
C151S |
probably benign |
Het |
| Zfp282 |
C |
T |
6: 47,874,848 (GRCm39) |
T351I |
probably damaging |
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 |
|
IGL03253:Aadacl4
|
APN |
4 |
144,349,858 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
2015-12-18 |
Incidental Mutation