Incidental Mutation 'R1203:Aoah'
| ID |
100286 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoah
|
| Ensembl Gene |
ENSMUSG00000021322 |
| Gene Name |
acyloxyacyl hydrolase |
| Synonyms |
4930433E13Rik |
| MMRRC Submission |
039273-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1203 (G1)
|
| Quality Score |
188 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
20978283-21220787 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21000764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 66
(E66G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021757]
[ENSMUST00000221982]
|
| AlphaFold |
O35298 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021757
AA Change: E66G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021757
Gene: ENSMUSG00000021322
AA Change: E66G
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221982
AA Change: E66G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.0915 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.4%
- 10x: 95.6%
- 20x: 89.3%
|
| Validation Efficiency |
100% (50/50) |
| 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 |
|---|
| A830018L16Rik |
A |
T |
1: 11,588,818 (GRCm39) |
R78S |
probably damaging |
Het |
| Aadacl3 |
T |
C |
4: 144,190,140 (GRCm39) |
T54A |
probably benign |
Het |
| Adcy8 |
A |
G |
15: 64,618,780 (GRCm39) |
I791T |
probably damaging |
Het |
| Aldh1b1 |
A |
G |
4: 45,803,359 (GRCm39) |
D299G |
probably damaging |
Het |
| Atl2 |
G |
T |
17: 80,160,334 (GRCm39) |
H418N |
probably damaging |
Het |
| Atp6v1d |
A |
G |
12: 78,908,214 (GRCm39) |
I7T |
possibly damaging |
Het |
| Calhm3 |
C |
T |
19: 47,143,839 (GRCm39) |
V155M |
probably damaging |
Het |
| Carmil1 |
A |
T |
13: 24,282,989 (GRCm39) |
I105K |
probably damaging |
Het |
| Csrp3 |
C |
A |
7: 48,489,278 (GRCm39) |
M1I |
probably null |
Het |
| Dnah10 |
T |
A |
5: 124,837,078 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
C |
12: 117,897,547 (GRCm39) |
N3561S |
possibly damaging |
Het |
| Dzip3 |
A |
T |
16: 48,772,180 (GRCm39) |
D496E |
probably damaging |
Het |
| Eif2ak1 |
T |
C |
5: 143,820,797 (GRCm39) |
V246A |
probably benign |
Het |
| Fam171b |
T |
A |
2: 83,643,313 (GRCm39) |
V74E |
probably benign |
Het |
| Gm14137 |
C |
T |
2: 119,005,605 (GRCm39) |
R55W |
probably damaging |
Het |
| Gm4950 |
T |
C |
18: 51,998,830 (GRCm39) |
I42V |
probably benign |
Het |
| Gpr35 |
T |
C |
1: 92,910,870 (GRCm39) |
V194A |
probably damaging |
Het |
| Kdm5d |
C |
T |
Y: 941,011 (GRCm39) |
S1132F |
probably damaging |
Het |
| Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
| Ncln |
A |
G |
10: 81,332,027 (GRCm39) |
V24A |
possibly damaging |
Het |
| Nphp4 |
A |
G |
4: 152,573,289 (GRCm39) |
K76E |
probably damaging |
Het |
| Nsf |
CAATAATAATAATAATA |
CAATAATAATAATAATAATA |
11: 103,816,952 (GRCm39) |
|
probably benign |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or52h2 |
A |
T |
7: 103,839,060 (GRCm39) |
L118* |
probably null |
Het |
| Pabpc1l |
G |
T |
2: 163,879,091 (GRCm39) |
V313F |
possibly damaging |
Het |
| Pcbd2 |
G |
A |
13: 55,880,881 (GRCm39) |
|
probably null |
Het |
| Rapgef6 |
T |
A |
11: 54,582,525 (GRCm39) |
V1479D |
probably benign |
Het |
| Rnf43 |
T |
C |
11: 87,618,301 (GRCm39) |
|
probably benign |
Het |
| Robo3 |
A |
G |
9: 37,329,978 (GRCm39) |
W1113R |
probably damaging |
Het |
| Sall1 |
A |
T |
8: 89,758,562 (GRCm39) |
V514E |
probably damaging |
Het |
| Sgpp1 |
A |
G |
12: 75,763,056 (GRCm39) |
I375T |
probably benign |
Het |
| Strc |
T |
C |
2: 121,202,604 (GRCm39) |
N1187S |
possibly damaging |
Het |
| Tbc1d17 |
G |
A |
7: 44,492,895 (GRCm39) |
R363W |
probably damaging |
Het |
| Tbcd |
A |
G |
11: 121,366,451 (GRCm39) |
Q242R |
probably benign |
Het |
| Tbcel |
A |
C |
9: 42,362,947 (GRCm39) |
V50G |
probably damaging |
Het |
| Tead3 |
C |
T |
17: 28,560,536 (GRCm39) |
A23T |
probably benign |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tlcd5 |
A |
G |
9: 43,022,775 (GRCm39) |
V193A |
probably benign |
Het |
| Tmem241 |
G |
T |
18: 12,217,035 (GRCm39) |
|
probably benign |
Het |
| Tmtc3 |
G |
T |
10: 100,312,606 (GRCm39) |
T79K |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,362,281 (GRCm39) |
V241A |
probably damaging |
Het |
| Vps8 |
A |
T |
16: 21,330,307 (GRCm39) |
I729F |
probably damaging |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAAGGGCAGTTTTGAGCCTC -3'
(R):5'- GGGTGTCTCTGATAACTTCCCATTTGG -3'
Sequencing Primer
(F):5'- CAGTTGATTCCTCAAGCATCCAG -3'
(R):5'- CAGAAATCCTTTCAGGCTAGTGTC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation