Incidental Mutation 'R8198:Aoah'
| ID |
635558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoah
|
| Ensembl Gene |
ENSMUSG00000021322 |
| Gene Name |
acyloxyacyl hydrolase |
| Synonyms |
4930433E13Rik |
| MMRRC Submission |
067621-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8198 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
20978283-21220787 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 21101290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 270
(P270L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021757]
|
| AlphaFold |
O35298 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021757
AA Change: P270L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000021757
Gene: ENSMUSG00000021322
AA Change: P270L
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (47/47) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024B05Rik |
T |
C |
14: 41,825,017 (GRCm39) |
*168R |
probably null |
Het |
| Adgrb1 |
C |
A |
15: 74,411,094 (GRCm39) |
T330K |
probably damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,307,880 (GRCm39) |
V373A |
probably benign |
Het |
| AU041133 |
C |
G |
10: 81,987,249 (GRCm39) |
P301A |
probably damaging |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| Cd2bp2 |
A |
G |
7: 126,793,576 (GRCm39) |
S204P |
possibly damaging |
Het |
| Clca4b |
C |
A |
3: 144,638,167 (GRCm39) |
G32C |
probably damaging |
Het |
| Clcn2 |
A |
G |
16: 20,525,946 (GRCm39) |
V808A |
probably damaging |
Het |
| Clec4d |
T |
C |
6: 123,244,965 (GRCm39) |
C82R |
probably damaging |
Het |
| Dennd1c |
T |
C |
17: 57,373,460 (GRCm39) |
D671G |
possibly damaging |
Het |
| Eml5 |
G |
A |
12: 98,825,145 (GRCm39) |
R691* |
probably null |
Het |
| Fcnb |
C |
T |
2: 27,968,330 (GRCm39) |
S209N |
possibly damaging |
Het |
| Gm4922 |
T |
C |
10: 18,659,340 (GRCm39) |
T461A |
probably benign |
Het |
| Gm9964 |
A |
G |
11: 79,187,405 (GRCm39) |
V14A |
unknown |
Het |
| Gnb3 |
T |
C |
6: 124,814,000 (GRCm39) |
Y196C |
probably benign |
Het |
| H4c2 |
C |
G |
13: 23,941,283 (GRCm39) |
Q94E |
possibly damaging |
Het |
| Hps1 |
C |
T |
19: 42,755,659 (GRCm39) |
R189Q |
probably benign |
Het |
| Iars2 |
G |
A |
1: 185,029,703 (GRCm39) |
T638I |
probably benign |
Het |
| Itpripl2 |
A |
G |
7: 118,089,819 (GRCm39) |
S247P |
probably damaging |
Het |
| Leng8 |
C |
A |
7: 4,147,170 (GRCm39) |
R523S |
possibly damaging |
Het |
| Lhfpl3 |
T |
A |
5: 23,478,333 (GRCm39) |
V72D |
probably benign |
Het |
| Lmntd2 |
A |
T |
7: 140,791,134 (GRCm39) |
M426K |
possibly damaging |
Het |
| Lsg1 |
A |
T |
16: 30,383,594 (GRCm39) |
V542E |
probably benign |
Het |
| Mphosph6 |
C |
T |
8: 118,519,449 (GRCm39) |
V108I |
probably benign |
Het |
| Mta2 |
A |
G |
19: 8,925,145 (GRCm39) |
T338A |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,580,664 (GRCm39) |
N98S |
probably benign |
Het |
| Or52h7 |
T |
A |
7: 104,214,140 (GRCm39) |
D237E |
probably benign |
Het |
| Or7a36 |
C |
A |
10: 78,820,443 (GRCm39) |
T273K |
probably benign |
Het |
| Or7a42 |
T |
A |
10: 78,791,558 (GRCm39) |
V173E |
probably damaging |
Het |
| Pgr |
T |
C |
9: 8,958,411 (GRCm39) |
V806A |
possibly damaging |
Het |
| Rad54b |
T |
C |
4: 11,612,440 (GRCm39) |
|
probably null |
Het |
| Sdad1 |
A |
T |
5: 92,439,811 (GRCm39) |
C405S |
probably damaging |
Het |
| Semp2l2a |
T |
A |
8: 13,887,056 (GRCm39) |
Y345F |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,065,174 (GRCm39) |
I814V |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,744,829 (GRCm39) |
I3108V |
probably benign |
Het |
| Spink5 |
A |
T |
18: 44,125,947 (GRCm39) |
I409F |
probably benign |
Het |
| Syt13 |
C |
A |
2: 92,783,899 (GRCm39) |
L390M |
probably damaging |
Het |
| Taf5 |
T |
A |
19: 47,064,212 (GRCm39) |
V385E |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,006,863 (GRCm39) |
V909E |
probably damaging |
Het |
| Tex9 |
G |
A |
9: 72,387,940 (GRCm39) |
|
probably benign |
Het |
| Timm10b |
G |
T |
7: 105,327,537 (GRCm39) |
E61* |
probably null |
Het |
| Tmprss11g |
A |
T |
5: 86,646,352 (GRCm39) |
F72I |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,219,880 (GRCm39) |
C2206R |
probably benign |
Het |
| Uba52rt |
C |
A |
4: 3,973,346 (GRCm39) |
R72L |
probably benign |
Het |
| Unc45b |
GC |
G |
11: 82,816,814 (GRCm39) |
|
probably null |
Het |
| Unc93b1 |
T |
C |
19: 3,991,910 (GRCm39) |
S215P |
possibly damaging |
Het |
| Usp48 |
C |
T |
4: 137,348,470 (GRCm39) |
|
probably benign |
Het |
| Vmn1r81 |
A |
G |
7: 11,993,882 (GRCm39) |
V242A |
possibly damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,389,673 (GRCm39) |
|
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 |
|
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 |
|
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'- GCATCACTGTTGGGGTGTAC -3'
(R):5'- TTGCCTGGAACTGACAGTGG -3'
Sequencing Primer
(F):5'- GGGTGTACTGTGCATTCCATACAC -3'
(R):5'- CCTGGAACTGACAGTGGAGATAACC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation