Incidental Mutation 'R8873:Aoah'
| ID |
676429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoah
|
| Ensembl Gene |
ENSMUSG00000021322 |
| Gene Name |
acyloxyacyl hydrolase |
| Synonyms |
4930433E13Rik |
| MMRRC Submission |
068686-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8873 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
20978283-21220787 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21089852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 157
(N157D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021757]
|
| AlphaFold |
O35298 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021757
AA Change: N157D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000021757
Gene: ENSMUSG00000021322
AA Change: N157D
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (42/43) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd15 |
C |
A |
11: 77,406,577 (GRCm39) |
R185S |
probably damaging |
Het |
| Arhgap35 |
T |
C |
7: 16,295,415 (GRCm39) |
N1217D |
possibly damaging |
Het |
| Asah2 |
A |
T |
19: 32,022,288 (GRCm39) |
|
probably null |
Het |
| Asb2 |
T |
C |
12: 103,299,725 (GRCm39) |
N236D |
probably damaging |
Het |
| Auts2 |
A |
G |
5: 131,472,502 (GRCm39) |
F317L |
|
Het |
| Cfap74 |
T |
C |
4: 155,539,465 (GRCm39) |
I930T |
unknown |
Het |
| Cmip |
T |
C |
8: 118,103,929 (GRCm39) |
V51A |
probably damaging |
Het |
| Col15a1 |
T |
C |
4: 47,247,552 (GRCm39) |
|
probably null |
Het |
| Cstf3 |
A |
T |
2: 104,475,355 (GRCm39) |
H97L |
possibly damaging |
Het |
| Dip2c |
A |
T |
13: 9,625,182 (GRCm39) |
M559L |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,219,334 (GRCm39) |
N51D |
probably benign |
Het |
| Dock4 |
T |
A |
12: 40,726,767 (GRCm39) |
Y348* |
probably null |
Het |
| Ehhadh |
C |
T |
16: 21,581,598 (GRCm39) |
G465R |
probably damaging |
Het |
| Fam110b |
C |
T |
4: 5,799,103 (GRCm39) |
Q174* |
probably null |
Het |
| Fam124a |
A |
G |
14: 62,844,024 (GRCm39) |
T511A |
probably benign |
Het |
| Fbxl17 |
A |
G |
17: 63,691,971 (GRCm39) |
V528A |
probably damaging |
Het |
| Fbxw24 |
C |
A |
9: 109,453,996 (GRCm39) |
W50L |
probably damaging |
Het |
| Fyb2 |
A |
T |
4: 104,856,538 (GRCm39) |
E582V |
probably damaging |
Het |
| Ganab |
G |
A |
19: 8,888,243 (GRCm39) |
W463* |
probably null |
Het |
| Gm11569 |
G |
T |
11: 99,689,210 (GRCm39) |
T163N |
unknown |
Het |
| Gm8237 |
G |
T |
14: 5,862,453 (GRCm38) |
Y86* |
probably null |
Het |
| Hrh4 |
T |
A |
18: 13,140,195 (GRCm39) |
M30K |
|
Het |
| Ifi209 |
A |
G |
1: 173,470,156 (GRCm39) |
Y248C |
probably damaging |
Het |
| Jazf1 |
T |
A |
6: 52,789,165 (GRCm39) |
H103L |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,486,172 (GRCm39) |
T66A |
probably damaging |
Het |
| Ndufa4 |
A |
G |
6: 11,907,360 (GRCm39) |
L2P |
probably benign |
Het |
| Npnt |
G |
A |
3: 132,655,816 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
G |
T |
17: 90,872,821 (GRCm39) |
C1052* |
probably null |
Het |
| Nsmce4a |
G |
T |
7: 130,148,886 (GRCm39) |
A40E |
unknown |
Het |
| Or2t6 |
A |
T |
14: 14,175,344 (GRCm38) |
V246E |
probably damaging |
Het |
| Pcdhgb2 |
T |
C |
18: 37,824,341 (GRCm39) |
V444A |
probably damaging |
Het |
| Pcdhgb7 |
C |
T |
18: 37,886,575 (GRCm39) |
P582S |
possibly damaging |
Het |
| Phf3 |
T |
C |
1: 30,843,773 (GRCm39) |
T1729A |
possibly damaging |
Het |
| Plod2 |
T |
A |
9: 92,489,112 (GRCm39) |
|
probably benign |
Het |
| Pramel15 |
G |
T |
4: 144,099,871 (GRCm39) |
A298E |
probably benign |
Het |
| Rbm20 |
G |
T |
19: 53,665,911 (GRCm39) |
V25F |
probably benign |
Het |
| Recql |
G |
T |
6: 142,308,013 (GRCm39) |
Q53K |
|
Het |
| Rps18-ps6 |
T |
A |
13: 97,896,843 (GRCm39) |
N85I |
probably damaging |
Het |
| Rtel1 |
CAAA |
CAA |
2: 180,997,816 (GRCm39) |
|
probably null |
Het |
| Serpine2 |
A |
G |
1: 79,799,267 (GRCm39) |
|
probably benign |
Het |
| Siglecg |
A |
G |
7: 43,067,448 (GRCm39) |
T672A |
probably benign |
Het |
| Skil |
T |
C |
3: 31,152,075 (GRCm39) |
L199P |
probably damaging |
Het |
| Tmprss11f |
C |
T |
5: 86,692,733 (GRCm39) |
A64T |
probably damaging |
Het |
| Ttc3 |
C |
T |
16: 94,243,842 (GRCm39) |
T1282M |
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 |
|
IGL03304:Aoah
|
APN |
13 |
21,099,180 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCAGTCTCAGGAACACAGG -3'
(R):5'- CATGCTGGGGCTAAGATTGC -3'
Sequencing Primer
(F):5'- CAGGCCACTGTACAGAAGGC -3'
(R):5'- GGCTAAGATTGCCTGTGATACATTTC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation