Incidental Mutation 'R3438:Aoah'
| ID |
267293 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoah
|
| Ensembl Gene |
ENSMUSG00000021322 |
| Gene Name |
acyloxyacyl hydrolase |
| Synonyms |
4930433E13Rik |
| MMRRC Submission |
040656-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3438 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
20978283-21220787 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 21101242 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 254
(R254K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021757
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021757]
|
| AlphaFold |
O35298 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021757
AA Change: R254K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000021757
Gene: ENSMUSG00000021322
AA Change: R254K
| 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 |
|
| Meta Mutation Damage Score |
0.0631 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (37/38) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017G19Rik |
A |
G |
3: 40,575,673 (GRCm39) |
|
noncoding transcript |
Het |
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Ampd3 |
T |
C |
7: 110,402,433 (GRCm39) |
I479T |
probably damaging |
Het |
| Appbp2 |
T |
C |
11: 85,088,966 (GRCm39) |
E358G |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,752,991 (GRCm39) |
S2294P |
possibly damaging |
Het |
| Cux1 |
T |
C |
5: 136,340,414 (GRCm39) |
E632G |
probably damaging |
Het |
| Cyp7a1 |
T |
C |
4: 6,272,769 (GRCm39) |
N148S |
probably damaging |
Het |
| Dgkz |
A |
T |
2: 91,764,395 (GRCm39) |
|
probably benign |
Het |
| Dlgap1 |
A |
T |
17: 70,823,356 (GRCm39) |
S114C |
probably damaging |
Het |
| Dmtn |
T |
A |
14: 70,850,156 (GRCm39) |
I263F |
probably damaging |
Het |
| Gigyf2 |
C |
A |
1: 87,368,302 (GRCm39) |
H1029N |
probably damaging |
Het |
| Gm10770 |
T |
A |
2: 150,021,469 (GRCm39) |
|
probably null |
Het |
| Gnb1l |
A |
G |
16: 18,371,117 (GRCm39) |
T203A |
probably benign |
Het |
| Kng2 |
T |
C |
16: 22,830,821 (GRCm39) |
I163V |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,102,161 (GRCm39) |
D1479G |
probably benign |
Het |
| Larp7-ps |
A |
C |
4: 92,079,919 (GRCm39) |
V23G |
possibly damaging |
Het |
| Lhx4 |
T |
A |
1: 155,578,230 (GRCm39) |
D304V |
probably benign |
Het |
| Mybl1 |
G |
T |
1: 9,757,870 (GRCm39) |
T143K |
probably damaging |
Het |
| Notch3 |
C |
T |
17: 32,372,564 (GRCm39) |
C630Y |
probably damaging |
Het |
| Oas1e |
T |
C |
5: 120,933,475 (GRCm39) |
E30G |
probably damaging |
Het |
| Or4c114 |
T |
C |
2: 88,904,707 (GRCm39) |
I243V |
probably benign |
Het |
| Or8b55 |
T |
G |
9: 38,727,512 (GRCm39) |
F238V |
probably damaging |
Het |
| Or9e1 |
G |
T |
11: 58,732,698 (GRCm39) |
G253* |
probably null |
Het |
| Otoa |
A |
G |
7: 120,759,566 (GRCm39) |
E1056G |
possibly damaging |
Het |
| Plin4 |
A |
G |
17: 56,414,193 (GRCm39) |
V144A |
probably benign |
Het |
| Sec16b |
T |
C |
1: 157,384,328 (GRCm39) |
|
probably benign |
Het |
| Stk31 |
A |
G |
6: 49,414,455 (GRCm39) |
S485G |
probably benign |
Het |
| Tanc2 |
C |
T |
11: 105,748,401 (GRCm39) |
P511L |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,357,062 (GRCm39) |
D309G |
probably damaging |
Het |
| Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
| Vsx2 |
A |
T |
12: 84,616,985 (GRCm39) |
Q90L |
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 |
|
|
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'- AGTTCCAACAGCTGACAAATTC -3'
(R):5'- TGCAAAGGGAAATCTGCACC -3'
Sequencing Primer
(F):5'- ATTCCACCCGCCTCCTAAATG -3'
(R):5'- AAATCTGCACCTGTCTGGAG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation