Incidental Mutation 'IGL03304:Aoah'
ID |
416354 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Aoah
|
Ensembl Gene |
ENSMUSG00000021322 |
Gene Name |
acyloxyacyl hydrolase |
Synonyms |
4930433E13Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03304
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
20978283-21220787 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 21099180 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021757
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021757]
|
AlphaFold |
O35298 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021757
|
SMART Domains |
Protein: ENSMUSP00000021757 Gene: ENSMUSG00000021322
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acy1 |
A |
T |
9: 106,312,665 (GRCm39) |
|
probably null |
Het |
Adamts4 |
T |
C |
1: 171,080,438 (GRCm39) |
|
probably benign |
Het |
Anapc1 |
A |
T |
2: 128,469,033 (GRCm39) |
|
probably benign |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Atp9b |
A |
T |
18: 80,961,092 (GRCm39) |
Y40N |
probably damaging |
Het |
Brd8 |
A |
G |
18: 34,747,633 (GRCm39) |
|
probably benign |
Het |
Cd274 |
A |
C |
19: 29,361,502 (GRCm39) |
E270A |
probably damaging |
Het |
Cic |
T |
A |
7: 24,984,274 (GRCm39) |
V23E |
probably damaging |
Het |
Cpeb4 |
T |
C |
11: 31,822,739 (GRCm39) |
L151P |
probably damaging |
Het |
D3Ertd751e |
G |
A |
3: 41,701,164 (GRCm39) |
|
probably null |
Het |
Diaph1 |
A |
T |
18: 37,987,626 (GRCm39) |
D1043E |
possibly damaging |
Het |
Fcgbpl1 |
A |
G |
7: 27,841,667 (GRCm39) |
Y534C |
probably damaging |
Het |
Hmcn1 |
T |
A |
1: 150,505,982 (GRCm39) |
N3848I |
probably damaging |
Het |
Ifi211 |
A |
T |
1: 173,735,273 (GRCm39) |
M52K |
probably damaging |
Het |
Itih4 |
T |
C |
14: 30,620,006 (GRCm39) |
I747T |
probably damaging |
Het |
Kifbp |
A |
C |
10: 62,395,082 (GRCm39) |
L520R |
probably damaging |
Het |
Lcat |
T |
C |
8: 106,666,695 (GRCm39) |
M276V |
possibly damaging |
Het |
Mmp1b |
A |
T |
9: 7,384,701 (GRCm39) |
D282E |
probably damaging |
Het |
Mst1r |
T |
A |
9: 107,785,137 (GRCm39) |
V265D |
probably damaging |
Het |
Muc4 |
T |
A |
16: 32,570,257 (GRCm39) |
L439* |
probably null |
Het |
Nlrp4e |
T |
A |
7: 23,052,768 (GRCm39) |
|
probably null |
Het |
Ogfod2 |
A |
T |
5: 124,250,886 (GRCm39) |
D24V |
probably damaging |
Het |
Or1ak2 |
T |
C |
2: 36,827,560 (GRCm39) |
L143P |
probably damaging |
Het |
Or5b105 |
A |
G |
19: 13,080,105 (GRCm39) |
S182P |
probably damaging |
Het |
Or9s23 |
T |
C |
1: 92,501,025 (GRCm39) |
V44A |
probably benign |
Het |
Pcnx1 |
T |
A |
12: 82,028,803 (GRCm39) |
W1661R |
probably damaging |
Het |
Pdzph1 |
G |
A |
17: 59,187,641 (GRCm39) |
T1193I |
probably damaging |
Het |
Pias3 |
A |
G |
3: 96,607,347 (GRCm39) |
T152A |
possibly damaging |
Het |
Pla2g5 |
A |
T |
4: 138,531,880 (GRCm39) |
Y41* |
probably null |
Het |
Plxna4 |
A |
G |
6: 32,141,986 (GRCm39) |
|
probably benign |
Het |
Ppp2r2a |
A |
C |
14: 67,253,977 (GRCm39) |
V397G |
probably benign |
Het |
Ripor3 |
A |
G |
2: 167,822,848 (GRCm39) |
|
probably benign |
Het |
Slc35a3 |
A |
G |
3: 116,480,960 (GRCm39) |
L101P |
probably damaging |
Het |
Sptan1 |
G |
A |
2: 29,876,505 (GRCm39) |
R295Q |
probably damaging |
Het |
Syce1 |
A |
T |
7: 140,357,623 (GRCm39) |
V314D |
possibly damaging |
Het |
Tex52 |
T |
C |
6: 128,356,495 (GRCm39) |
Y63H |
possibly damaging |
Het |
Tmem63a |
T |
A |
1: 180,796,418 (GRCm39) |
Y580* |
probably null |
Het |
Ube2m |
T |
A |
7: 12,769,685 (GRCm39) |
|
probably benign |
Het |
Vmn1r50 |
G |
T |
6: 90,084,625 (GRCm39) |
K123N |
probably damaging |
Het |
|
Other mutations in Aoah |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01561:Aoah
|
APN |
13 |
21,089,905 (GRCm39) |
splice site |
probably benign |
|
IGL01561:Aoah
|
APN |
13 |
21,189,264 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01717:Aoah
|
APN |
13 |
21,184,147 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01997:Aoah
|
APN |
13 |
21,184,108 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02212:Aoah
|
APN |
13 |
21,187,071 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02325:Aoah
|
APN |
13 |
21,101,295 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03028:Aoah
|
APN |
13 |
21,000,752 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL03352:Aoah
|
APN |
13 |
21,184,213 (GRCm39) |
missense |
probably benign |
0.01 |
H8562:Aoah
|
UTSW |
13 |
21,000,694 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4402001:Aoah
|
UTSW |
13 |
20,978,680 (GRCm39) |
missense |
probably benign |
0.00 |
R0255:Aoah
|
UTSW |
13 |
21,163,710 (GRCm39) |
nonsense |
probably null |
|
R0432:Aoah
|
UTSW |
13 |
21,095,368 (GRCm39) |
splice site |
probably benign |
|
R0501:Aoah
|
UTSW |
13 |
21,189,243 (GRCm39) |
missense |
probably benign |
0.16 |
R1036:Aoah
|
UTSW |
13 |
21,024,339 (GRCm39) |
splice site |
probably benign |
|
R1119:Aoah
|
UTSW |
13 |
21,099,108 (GRCm39) |
splice site |
probably benign |
|
R1203:Aoah
|
UTSW |
13 |
21,000,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R1589:Aoah
|
UTSW |
13 |
21,187,118 (GRCm39) |
missense |
probably damaging |
0.99 |
R1662:Aoah
|
UTSW |
13 |
21,184,283 (GRCm39) |
splice site |
probably null |
|
R1907:Aoah
|
UTSW |
13 |
21,094,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R1959:Aoah
|
UTSW |
13 |
20,978,564 (GRCm39) |
start codon destroyed |
probably null |
0.89 |
R2145:Aoah
|
UTSW |
13 |
21,024,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R2237:Aoah
|
UTSW |
13 |
20,978,481 (GRCm39) |
start gained |
probably benign |
|
R3438:Aoah
|
UTSW |
13 |
21,101,242 (GRCm39) |
missense |
probably benign |
0.00 |
R4226:Aoah
|
UTSW |
13 |
21,163,696 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4868:Aoah
|
UTSW |
13 |
21,099,151 (GRCm39) |
nonsense |
probably null |
|
R5026:Aoah
|
UTSW |
13 |
21,099,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R5139:Aoah
|
UTSW |
13 |
21,207,407 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5624:Aoah
|
UTSW |
13 |
21,179,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R5853:Aoah
|
UTSW |
13 |
21,184,072 (GRCm39) |
missense |
probably benign |
0.01 |
R6134:Aoah
|
UTSW |
13 |
21,095,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R6459:Aoah
|
UTSW |
13 |
21,184,112 (GRCm39) |
missense |
probably damaging |
0.99 |
R7077:Aoah
|
UTSW |
13 |
21,094,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R7103:Aoah
|
UTSW |
13 |
21,207,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R8198:Aoah
|
UTSW |
13 |
21,101,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R8340:Aoah
|
UTSW |
13 |
21,184,112 (GRCm39) |
missense |
probably damaging |
0.99 |
R8723:Aoah
|
UTSW |
13 |
21,184,180 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8790:Aoah
|
UTSW |
13 |
21,035,840 (GRCm39) |
missense |
probably benign |
0.16 |
R8811:Aoah
|
UTSW |
13 |
21,184,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R8873:Aoah
|
UTSW |
13 |
21,089,852 (GRCm39) |
missense |
probably benign |
0.00 |
R8973:Aoah
|
UTSW |
13 |
21,024,325 (GRCm39) |
missense |
probably benign |
0.00 |
R9015:Aoah
|
UTSW |
13 |
21,184,197 (GRCm39) |
synonymous |
silent |
|
R9287:Aoah
|
UTSW |
13 |
21,186,879 (GRCm39) |
missense |
probably damaging |
0.96 |
R9759:Aoah
|
UTSW |
13 |
21,000,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |