Incidental Mutation 'IGL01717:Aoah'
| ID |
104961 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aoah
|
| Ensembl Gene |
ENSMUSG00000021322 |
| Gene Name |
acyloxyacyl hydrolase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01717
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
20794113-21036617 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20999977 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 404
(S404P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021757]
|
| AlphaFold |
O35298 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021757
AA Change: S404P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021757
Gene: ENSMUSG00000021322
AA Change: S404P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
SapB
|
38 |
113 |
6.25e-15 |
SMART |
|
Pfam:Lipase_GDSL
|
256 |
542 |
4.8e-19 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This genes encodes an enzyme that catalyzes the hydrolysis of acyloxylacyl-linked fatty acyl chains from bacterial lipopolysaccharides. The encoded protein modulates host inflammatory response to gram-negative bacteria. The proprotein is further cleaved into a large and small chain that interact in a heterodimer. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous null mice have a reduced ability to deacylate bacterial lipopolysaccharides. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438A13Rik |
A |
G |
3: 37,034,736 (GRCm38) |
S4112G |
probably benign |
Het |
| Aif1 |
A |
T |
17: 35,171,555 (GRCm38) |
M73K |
probably damaging |
Het |
| Alk |
T |
C |
17: 72,603,382 (GRCm38) |
I110V |
probably benign |
Het |
| Bhlhe41 |
A |
G |
6: 145,863,037 (GRCm38) |
S350P |
possibly damaging |
Het |
| Capn12 |
A |
G |
7: 28,889,105 (GRCm38) |
D540G |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,965,259 (GRCm38) |
Y2012H |
possibly damaging |
Het |
| Col1a1 |
A |
G |
11: 94,950,777 (GRCm38) |
T1284A |
unknown |
Het |
| Col24a1 |
T |
C |
3: 145,524,263 (GRCm38) |
|
probably benign |
Het |
| Col4a5 |
T |
A |
X: 141,639,238 (GRCm38) |
V1070D |
unknown |
Het |
| Col6a5 |
T |
C |
9: 105,940,273 (GRCm38) |
T280A |
unknown |
Het |
| Dicer1 |
A |
T |
12: 104,702,787 (GRCm38) |
L1212* |
probably null |
Het |
| Gigyf1 |
T |
A |
5: 137,525,691 (GRCm38) |
V1041E |
probably damaging |
Het |
| Gm4978 |
C |
T |
9: 69,450,873 (GRCm38) |
|
probably benign |
Het |
| Gnai1 |
A |
G |
5: 18,291,461 (GRCm38) |
|
probably null |
Het |
| Golgb1 |
C |
T |
16: 36,915,502 (GRCm38) |
R1704* |
probably null |
Het |
| Incenp |
A |
G |
19: 9,893,265 (GRCm38) |
|
probably benign |
Het |
| Lrrc39 |
A |
T |
3: 116,579,497 (GRCm38) |
|
probably benign |
Het |
| Man2a2 |
T |
C |
7: 80,367,365 (GRCm38) |
K319E |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,189,867 (GRCm38) |
D83G |
probably damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,588,594 (GRCm38) |
I732T |
probably damaging |
Het |
| Pacs1 |
T |
A |
19: 5,167,972 (GRCm38) |
K130N |
probably damaging |
Het |
| Pappa2 |
A |
G |
1: 158,857,132 (GRCm38) |
|
probably null |
Het |
| Pole2 |
T |
C |
12: 69,213,849 (GRCm38) |
M186V |
probably damaging |
Het |
| Rwdd4a |
T |
C |
8: 47,544,105 (GRCm38) |
|
probably benign |
Het |
| Sel1l3 |
A |
G |
5: 53,200,168 (GRCm38) |
Y161H |
probably damaging |
Het |
| Sf3a2 |
C |
T |
10: 80,804,692 (GRCm38) |
Q446* |
probably null |
Het |
| Slc26a3 |
T |
C |
12: 31,463,477 (GRCm38) |
I466T |
probably benign |
Het |
| Slc29a4 |
A |
T |
5: 142,718,746 (GRCm38) |
I348F |
probably damaging |
Het |
| Tbl1xr1 |
A |
G |
3: 22,193,171 (GRCm38) |
|
probably benign |
Het |
| Tlr5 |
A |
T |
1: 182,975,398 (GRCm38) |
I756F |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,730,402 (GRCm38) |
L29218F |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,730,404 (GRCm38) |
L29218I |
probably damaging |
Het |
|
| Other mutations in Aoah |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01561:Aoah
|
APN |
13 |
20,905,735 (GRCm38) |
splice site |
probably benign |
|
|
IGL01561:Aoah
|
APN |
13 |
21,005,094 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01997:Aoah
|
APN |
13 |
20,999,938 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02212:Aoah
|
APN |
13 |
21,002,901 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL02325:Aoah
|
APN |
13 |
20,917,125 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03028:Aoah
|
APN |
13 |
20,816,582 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
IGL03304:Aoah
|
APN |
13 |
20,915,010 (GRCm38) |
splice site |
probably benign |
|
|
IGL03352:Aoah
|
APN |
13 |
21,000,043 (GRCm38) |
missense |
probably benign |
0.01 |
|
H8562:Aoah
|
UTSW |
13 |
20,816,524 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4402001:Aoah
|
UTSW |
13 |
20,794,510 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0255:Aoah
|
UTSW |
13 |
20,979,540 (GRCm38) |
nonsense |
probably null |
|
|
R0432:Aoah
|
UTSW |
13 |
20,911,198 (GRCm38) |
splice site |
probably benign |
|
|
R0501:Aoah
|
UTSW |
13 |
21,005,073 (GRCm38) |
missense |
probably benign |
0.16 |
|
R1036:Aoah
|
UTSW |
13 |
20,840,169 (GRCm38) |
splice site |
probably benign |
|
|
R1119:Aoah
|
UTSW |
13 |
20,914,938 (GRCm38) |
splice site |
probably benign |
|
|
R1203:Aoah
|
UTSW |
13 |
20,816,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1589:Aoah
|
UTSW |
13 |
21,002,948 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1662:Aoah
|
UTSW |
13 |
21,000,113 (GRCm38) |
splice site |
probably null |
|
|
R1907:Aoah
|
UTSW |
13 |
20,910,094 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1959:Aoah
|
UTSW |
13 |
20,794,394 (GRCm38) |
start codon destroyed |
probably null |
0.89 |
|
R2145:Aoah
|
UTSW |
13 |
20,840,096 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2237:Aoah
|
UTSW |
13 |
20,794,311 (GRCm38) |
start gained |
probably benign |
|
|
R3438:Aoah
|
UTSW |
13 |
20,917,072 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4226:Aoah
|
UTSW |
13 |
20,979,526 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R4868:Aoah
|
UTSW |
13 |
20,914,981 (GRCm38) |
nonsense |
probably null |
|
|
R5026:Aoah
|
UTSW |
13 |
20,914,959 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5139:Aoah
|
UTSW |
13 |
21,023,237 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R5624:Aoah
|
UTSW |
13 |
20,995,479 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5853:Aoah
|
UTSW |
13 |
20,999,902 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6134:Aoah
|
UTSW |
13 |
20,911,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6459:Aoah
|
UTSW |
13 |
20,999,942 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7077:Aoah
|
UTSW |
13 |
20,910,106 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7103:Aoah
|
UTSW |
13 |
21,023,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8198:Aoah
|
UTSW |
13 |
20,917,120 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8340:Aoah
|
UTSW |
13 |
20,999,942 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8723:Aoah
|
UTSW |
13 |
21,000,010 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R8790:Aoah
|
UTSW |
13 |
20,851,670 (GRCm38) |
missense |
probably benign |
0.16 |
|
R8811:Aoah
|
UTSW |
13 |
20,999,951 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8873:Aoah
|
UTSW |
13 |
20,905,682 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8973:Aoah
|
UTSW |
13 |
20,840,155 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9015:Aoah
|
UTSW |
13 |
21,000,027 (GRCm38) |
synonymous |
silent |
|
|
R9287:Aoah
|
UTSW |
13 |
21,002,709 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9759:Aoah
|
UTSW |
13 |
20,816,568 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation