Incidental Mutation 'IGL01561:Aoah'
ID90862
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aoah
Ensembl Gene ENSMUSG00000021322
Gene Nameacyloxyacyl hydrolase
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01561
Quality Score
Status
Chromosome13
Chromosomal Location20794113-21036617 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 20905735 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000021757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021757]
Predicted Effect probably benign
Transcript: ENSMUST00000021757
SMART Domains Protein: ENSMUSP00000021757
Gene: ENSMUSG00000021322

DomainStartEndE-ValueType
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
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 G A 11: 5,871,349 D583N probably damaging Het
Cdh10 G T 15: 18,999,926 A486S possibly damaging Het
Cers2 A T 3: 95,322,161 probably null Het
Clec4a4 T A 6: 123,024,016 C229* probably null Het
Col15a1 T C 4: 47,312,118 V1311A possibly damaging Het
Fpr-rs3 C T 17: 20,624,597 G94D probably damaging Het
Fsd1 T A 17: 55,995,363 M269K probably benign Het
Golga2 A G 2: 32,296,677 M73V probably benign Het
Gusb A T 5: 129,998,086 V388E probably damaging Het
Heg1 A G 16: 33,766,668 N1267S probably benign Het
Htra4 A C 8: 25,033,571 I326S probably damaging Het
Klhl33 T C 14: 50,891,431 I780M probably benign Het
Mertk T C 2: 128,736,636 S181P probably damaging Het
Mpdz T C 4: 81,284,614 H1882R probably damaging Het
Muc13 A G 16: 33,806,041 K317E possibly damaging Het
Nek3 A G 8: 22,129,456 F440S probably damaging Het
Nrxn2 G A 19: 6,490,142 R831H probably damaging Het
Olfr1490 T C 19: 13,654,905 F159L probably benign Het
Olfr357 T A 2: 36,996,943 F44L probably benign Het
Olfr866 T C 9: 20,027,522 M139V probably benign Het
Palmd A T 3: 116,924,093 S252T probably damaging Het
Piezo2 C A 18: 63,124,614 M344I probably benign Het
Pygo1 T A 9: 72,945,288 N252K probably damaging Het
Rhobtb1 A G 10: 69,270,391 Q262R probably benign Het
Xpo1 T C 11: 23,282,706 Y409H possibly damaging Het
Zan T A 5: 137,463,866 E1017V unknown Het
Other mutations in Aoah
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01561:Aoah APN 13 21005094 missense probably damaging 0.97
IGL01717:Aoah APN 13 20999977 missense probably damaging 0.99
IGL01997:Aoah APN 13 20999938 missense probably benign 0.00
IGL02212:Aoah APN 13 21002901 missense probably benign 0.05
IGL02325:Aoah APN 13 20917125 missense probably damaging 0.97
IGL03028:Aoah APN 13 20816582 missense possibly damaging 0.62
IGL03304:Aoah APN 13 20915010 splice site probably benign
IGL03352:Aoah APN 13 21000043 missense probably benign 0.01
H8562:Aoah UTSW 13 20816524 missense probably damaging 1.00
PIT4402001:Aoah UTSW 13 20794510 missense probably benign 0.00
R0255:Aoah UTSW 13 20979540 nonsense probably null
R0432:Aoah UTSW 13 20911198 splice site probably benign
R0501:Aoah UTSW 13 21005073 missense probably benign 0.16
R1036:Aoah UTSW 13 20840169 splice site probably benign
R1119:Aoah UTSW 13 20914938 splice site probably benign
R1203:Aoah UTSW 13 20816594 missense probably damaging 1.00
R1589:Aoah UTSW 13 21002948 missense probably damaging 0.99
R1662:Aoah UTSW 13 21000113 intron probably null
R1907:Aoah UTSW 13 20910094 missense probably damaging 1.00
R1959:Aoah UTSW 13 20794394 start codon destroyed probably null 0.89
R2145:Aoah UTSW 13 20840096 missense probably damaging 1.00
R2237:Aoah UTSW 13 20794311 start gained probably benign
R3438:Aoah UTSW 13 20917072 missense probably benign 0.00
R4226:Aoah UTSW 13 20979526 missense possibly damaging 0.50
R4868:Aoah UTSW 13 20914981 nonsense probably null
R5026:Aoah UTSW 13 20914959 missense probably damaging 1.00
R5139:Aoah UTSW 13 21023237 missense possibly damaging 0.61
R5624:Aoah UTSW 13 20995479 missense probably damaging 1.00
R5853:Aoah UTSW 13 20999902 missense probably benign 0.01
R6134:Aoah UTSW 13 20911123 missense probably damaging 1.00
R6459:Aoah UTSW 13 20999942 missense probably damaging 0.99
R7077:Aoah UTSW 13 20910106 missense probably damaging 1.00
R7103:Aoah UTSW 13 21023315 missense probably damaging 1.00
Posted On2013-12-09