Incidental Mutation 'R5853:Aoah'
ID |
454778 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aoah
|
Ensembl Gene |
ENSMUSG00000021322 |
Gene Name |
acyloxyacyl hydrolase |
Synonyms |
4930433E13Rik |
MMRRC Submission |
044068-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5853 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
20978283-21220787 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 21184072 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 379
(A379S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021757
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021757]
|
AlphaFold |
O35298 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021757
AA Change: A379S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000021757 Gene: ENSMUSG00000021322 AA Change: A379S
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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
G |
A |
7: 119,939,806 (GRCm39) |
V303I |
probably benign |
Het |
Abca4 |
G |
T |
3: 121,897,180 (GRCm39) |
V620L |
probably benign |
Het |
Ankk1 |
A |
T |
9: 49,329,995 (GRCm39) |
V320E |
possibly damaging |
Het |
Apol7e |
A |
G |
15: 77,598,667 (GRCm39) |
D44G |
probably benign |
Het |
Atf2 |
T |
C |
2: 73,658,813 (GRCm39) |
|
probably null |
Het |
Cd209b |
T |
C |
8: 3,976,549 (GRCm39) |
|
probably null |
Het |
Chek1 |
G |
A |
9: 36,624,983 (GRCm39) |
S366L |
probably damaging |
Het |
Chpf2 |
T |
C |
5: 24,797,190 (GRCm39) |
L712P |
probably damaging |
Het |
Clmn |
C |
A |
12: 104,750,161 (GRCm39) |
|
probably null |
Het |
Cnksr3 |
T |
C |
10: 7,092,977 (GRCm39) |
D178G |
probably benign |
Het |
Cpox |
T |
C |
16: 58,495,780 (GRCm39) |
Y366H |
probably damaging |
Het |
Dnah3 |
A |
G |
7: 119,538,056 (GRCm39) |
F3632S |
probably damaging |
Het |
Eif5b |
T |
A |
1: 38,076,388 (GRCm39) |
D645E |
probably damaging |
Het |
Emilin1 |
G |
A |
5: 31,075,966 (GRCm39) |
E736K |
probably damaging |
Het |
Gcnt4 |
G |
A |
13: 97,083,160 (GRCm39) |
R152Q |
probably benign |
Het |
Il6st |
T |
C |
13: 112,618,071 (GRCm39) |
S162P |
probably damaging |
Het |
Iqub |
T |
C |
6: 24,491,601 (GRCm39) |
K362E |
probably benign |
Het |
Kif22 |
G |
T |
7: 126,632,539 (GRCm39) |
P257Q |
possibly damaging |
Het |
Lhx2 |
T |
C |
2: 38,259,053 (GRCm39) |
V378A |
probably damaging |
Het |
Lipo3 |
A |
G |
19: 33,759,630 (GRCm39) |
V202A |
probably benign |
Het |
Lrp1b |
T |
A |
2: 40,553,738 (GRCm39) |
N366I |
unknown |
Het |
Mbip |
T |
C |
12: 56,382,662 (GRCm39) |
D268G |
probably damaging |
Het |
Mc5r |
A |
G |
18: 68,472,564 (GRCm39) |
M308V |
probably benign |
Het |
Mndal |
C |
A |
1: 173,690,070 (GRCm39) |
G420V |
probably damaging |
Het |
Nbea |
A |
T |
3: 55,899,822 (GRCm39) |
N1442K |
probably damaging |
Het |
Ndufv1 |
A |
T |
19: 4,058,811 (GRCm39) |
|
probably null |
Het |
Ofcc1 |
A |
G |
13: 40,360,193 (GRCm39) |
S279P |
probably benign |
Het |
Or4k2 |
A |
T |
14: 50,424,326 (GRCm39) |
M116K |
possibly damaging |
Het |
Or6b2b |
T |
C |
1: 92,419,439 (GRCm39) |
I13V |
probably benign |
Het |
Pabpc1l |
A |
T |
2: 163,891,438 (GRCm39) |
H552L |
probably benign |
Het |
Pigr |
T |
A |
1: 130,774,341 (GRCm39) |
C440* |
probably null |
Het |
Pramel11 |
A |
G |
4: 143,623,490 (GRCm39) |
V228A |
probably benign |
Het |
Prss30 |
C |
T |
17: 24,191,820 (GRCm39) |
V271I |
probably damaging |
Het |
Psme4 |
T |
A |
11: 30,741,234 (GRCm39) |
|
probably null |
Het |
Qrich1 |
T |
A |
9: 108,410,807 (GRCm39) |
|
probably benign |
Het |
Rem1 |
C |
G |
2: 152,470,200 (GRCm39) |
A62G |
possibly damaging |
Het |
Rftn1 |
T |
C |
17: 50,354,354 (GRCm39) |
N58S |
probably damaging |
Het |
Rp9 |
G |
A |
9: 22,360,065 (GRCm39) |
|
probably benign |
Het |
Rrp1b |
G |
A |
17: 32,275,658 (GRCm39) |
V402I |
possibly damaging |
Het |
Slc25a33 |
A |
T |
4: 149,838,349 (GRCm39) |
Y108N |
probably benign |
Het |
Slc3a1 |
A |
G |
17: 85,340,008 (GRCm39) |
M189V |
probably damaging |
Het |
Slc44a1 |
A |
C |
4: 53,528,682 (GRCm39) |
K144T |
probably benign |
Het |
Tbc1d13 |
T |
A |
2: 30,027,393 (GRCm39) |
H100Q |
probably damaging |
Het |
Timm29 |
T |
C |
9: 21,504,749 (GRCm39) |
V139A |
probably damaging |
Het |
Tmem70 |
T |
C |
1: 16,735,556 (GRCm39) |
W9R |
possibly damaging |
Het |
Tspan1 |
A |
G |
4: 116,020,502 (GRCm39) |
|
probably null |
Het |
Unc13a |
T |
C |
8: 72,107,773 (GRCm39) |
|
probably null |
Het |
Uroc1 |
T |
C |
6: 90,323,738 (GRCm39) |
F395S |
probably damaging |
Het |
Uvrag |
A |
C |
7: 98,537,284 (GRCm39) |
L637R |
possibly damaging |
Het |
Vmn1r213 |
T |
G |
13: 23,195,684 (GRCm39) |
L3W |
probably benign |
Het |
Zfp280d |
C |
T |
9: 72,238,224 (GRCm39) |
T528I |
probably benign |
Het |
Zfp526 |
C |
T |
7: 24,924,601 (GRCm39) |
Q287* |
probably null |
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 |
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'- AGCTTAGTAGGCTCCACTGG -3'
(R):5'- ATGCATTGCTCATACATCACAC -3'
Sequencing Primer
(F):5'- CTCCACTGGAGTTATTAAATGCAG -3'
(R):5'- TATATCTGCACACTCATACAAATAGC -3'
|
Posted On |
2017-02-10 |