Incidental Mutation 'R7077:Aoah'
ID |
549292 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aoah
|
Ensembl Gene |
ENSMUSG00000021322 |
Gene Name |
acyloxyacyl hydrolase |
Synonyms |
4930433E13Rik |
MMRRC Submission |
045172-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7077 (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 21094276 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 187
(D187G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021757
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021757]
|
AlphaFold |
O35298 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021757
AA Change: D187G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021757 Gene: ENSMUSG00000021322 AA Change: D187G
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 |
0.3047 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
98% (54/55) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam21 |
C |
T |
12: 81,605,893 (GRCm39) |
C623Y |
probably damaging |
Het |
Ago3 |
T |
C |
4: 126,265,325 (GRCm39) |
K322R |
probably null |
Het |
Ankrd17 |
T |
C |
5: 90,433,723 (GRCm39) |
H682R |
possibly damaging |
Het |
Arhgap17 |
T |
C |
7: 122,879,231 (GRCm39) |
D840G |
unknown |
Het |
AW551984 |
C |
T |
9: 39,502,723 (GRCm39) |
V650I |
probably benign |
Het |
Bok |
T |
A |
1: 93,616,911 (GRCm39) |
Y86N |
probably damaging |
Het |
Ccdc146 |
T |
A |
5: 21,510,272 (GRCm39) |
N580I |
possibly damaging |
Het |
Ccng2 |
T |
C |
5: 93,417,199 (GRCm39) |
S72P |
possibly damaging |
Het |
Cfap74 |
T |
G |
4: 155,540,134 (GRCm39) |
I977S |
unknown |
Het |
Cobl |
T |
C |
11: 12,203,441 (GRCm39) |
N1087S |
probably benign |
Het |
Cyp21a1 |
C |
A |
17: 35,021,333 (GRCm39) |
R346L |
probably damaging |
Het |
Eif4a1 |
A |
C |
11: 69,561,490 (GRCm39) |
F52L |
probably damaging |
Het |
Eif4ebp2 |
A |
C |
10: 61,269,580 (GRCm39) |
I120S |
probably damaging |
Het |
Enpp2 |
A |
C |
15: 54,764,787 (GRCm39) |
D146E |
probably benign |
Het |
Exosc9 |
T |
C |
3: 36,607,205 (GRCm39) |
Y30H |
probably damaging |
Het |
Fam117a |
G |
A |
11: 95,268,498 (GRCm39) |
G300S |
probably benign |
Het |
Focad |
C |
A |
4: 88,328,914 (GRCm39) |
A1709E |
unknown |
Het |
Fsd1 |
G |
A |
17: 56,300,876 (GRCm39) |
R245H |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,813,496 (GRCm39) |
F3272L |
probably benign |
Het |
Gcnt2 |
G |
A |
13: 41,013,896 (GRCm39) |
M22I |
probably benign |
Het |
Gjd4 |
T |
C |
18: 9,280,928 (GRCm39) |
E50G |
probably damaging |
Het |
Gm10375 |
G |
T |
14: 43,840,427 (GRCm39) |
T162K |
probably benign |
Het |
Gm10837 |
C |
G |
14: 122,728,142 (GRCm39) |
A6G |
unknown |
Het |
Gm4924 |
T |
C |
10: 82,215,057 (GRCm39) |
F952L |
unknown |
Het |
Heatr1 |
T |
C |
13: 12,433,045 (GRCm39) |
F1132L |
possibly damaging |
Het |
Hnrnpu |
A |
G |
1: 178,159,756 (GRCm39) |
Y442H |
unknown |
Het |
Hp1bp3 |
C |
A |
4: 137,966,929 (GRCm39) |
T408N |
probably damaging |
Het |
Htra3 |
A |
G |
5: 35,825,660 (GRCm39) |
V198A |
probably damaging |
Het |
Katnal1 |
T |
C |
5: 148,828,547 (GRCm39) |
T300A |
probably benign |
Het |
Lipo5 |
G |
T |
19: 33,445,170 (GRCm39) |
P133Q |
|
Het |
Lrp1b |
A |
T |
2: 41,660,858 (GRCm39) |
H197Q |
|
Het |
Mdc1 |
C |
A |
17: 36,156,839 (GRCm39) |
A82D |
probably damaging |
Het |
Mstn |
A |
T |
1: 53,103,408 (GRCm39) |
D248V |
probably benign |
Het |
Myo1d |
C |
T |
11: 80,565,460 (GRCm39) |
E426K |
probably damaging |
Het |
Ola1 |
G |
A |
2: 72,972,308 (GRCm39) |
T221I |
probably damaging |
Het |
Or52z1 |
A |
G |
7: 103,436,593 (GRCm39) |
I297T |
probably damaging |
Het |
Or5t7 |
T |
C |
2: 86,507,236 (GRCm39) |
Y147C |
possibly damaging |
Het |
Or7e166 |
T |
A |
9: 19,624,428 (GRCm39) |
S102T |
probably benign |
Het |
Or8c20 |
T |
A |
9: 38,261,266 (GRCm39) |
Y290N |
probably damaging |
Het |
Phldb1 |
T |
C |
9: 44,623,201 (GRCm39) |
T618A |
possibly damaging |
Het |
Pkd1 |
T |
G |
17: 24,810,093 (GRCm39) |
W3565G |
probably damaging |
Het |
Prl3a1 |
A |
T |
13: 27,460,086 (GRCm39) |
N190I |
probably benign |
Het |
Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
Ptpn11 |
C |
T |
5: 121,281,633 (GRCm39) |
R484Q |
probably benign |
Het |
Rapgef4 |
T |
C |
2: 72,071,820 (GRCm39) |
M900T |
probably damaging |
Het |
Slc1a2 |
A |
T |
2: 102,607,855 (GRCm39) |
D501V |
probably benign |
Het |
Smarcd3 |
G |
T |
5: 24,799,960 (GRCm39) |
A270D |
probably damaging |
Het |
Srgap2 |
A |
G |
1: 131,272,187 (GRCm39) |
M33T |
|
Het |
Tle1 |
G |
C |
4: 72,076,612 (GRCm39) |
P139A |
probably benign |
Het |
Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
Tsbp1 |
C |
A |
17: 34,659,856 (GRCm39) |
T93N |
possibly damaging |
Het |
Zfp658 |
T |
A |
7: 43,223,413 (GRCm39) |
S563T |
probably benign |
Het |
Zswim9 |
G |
A |
7: 12,993,679 (GRCm39) |
R826C |
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 |
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'- CTCTCATAGGTCCACAGATGCC -3'
(R):5'- CATAGAGAACTGCAGCTGGG -3'
Sequencing Primer
(F):5'- CCACAGATGCCGGACTTTATTTTTAG -3'
(R):5'- AGCAGAACTGGGTGTATGGTTTAC -3'
|
Posted On |
2019-05-15 |