Incidental Mutation 'IGL01717:Aoah'
ID 104961
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aoah
Ensembl Gene ENSMUSG00000021322
Gene Name acyloxyacyl hydrolase
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01717
Quality Score
Status
Chromosome 13
Chromosomal Location 20794113-21036617 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20999977 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 404 (S404P)
Ref Sequence ENSEMBL: ENSMUSP00000021757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021757]
AlphaFold O35298
Predicted Effect probably damaging
Transcript: ENSMUST00000021757
AA Change: S404P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021757
Gene: ENSMUSG00000021322
AA Change: S404P

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,034,736 (GRCm38) S4112G probably benign Het
Aif1 A T 17: 35,171,555 (GRCm38) M73K probably damaging Het
Alk T C 17: 72,603,382 (GRCm38) I110V probably benign Het
Bhlhe41 A G 6: 145,863,037 (GRCm38) S350P possibly damaging Het
Capn12 A G 7: 28,889,105 (GRCm38) D540G probably benign Het
Chd6 A G 2: 160,965,259 (GRCm38) Y2012H possibly damaging Het
Col1a1 A G 11: 94,950,777 (GRCm38) T1284A unknown Het
Col24a1 T C 3: 145,524,263 (GRCm38) probably benign Het
Col4a5 T A X: 141,639,238 (GRCm38) V1070D unknown Het
Col6a5 T C 9: 105,940,273 (GRCm38) T280A unknown Het
Dicer1 A T 12: 104,702,787 (GRCm38) L1212* probably null Het
Gigyf1 T A 5: 137,525,691 (GRCm38) V1041E probably damaging Het
Gm4978 C T 9: 69,450,873 (GRCm38) probably benign Het
Gnai1 A G 5: 18,291,461 (GRCm38) probably null Het
Golgb1 C T 16: 36,915,502 (GRCm38) R1704* probably null Het
Incenp A G 19: 9,893,265 (GRCm38) probably benign Het
Lrrc39 A T 3: 116,579,497 (GRCm38) probably benign Het
Man2a2 T C 7: 80,367,365 (GRCm38) K319E probably damaging Het
Neb T C 2: 52,189,867 (GRCm38) D83G probably damaging Het
Osbpl6 T C 2: 76,588,594 (GRCm38) I732T probably damaging Het
Pacs1 T A 19: 5,167,972 (GRCm38) K130N probably damaging Het
Pappa2 A G 1: 158,857,132 (GRCm38) probably null Het
Pole2 T C 12: 69,213,849 (GRCm38) M186V probably damaging Het
Rwdd4a T C 8: 47,544,105 (GRCm38) probably benign Het
Sel1l3 A G 5: 53,200,168 (GRCm38) Y161H probably damaging Het
Sf3a2 C T 10: 80,804,692 (GRCm38) Q446* probably null Het
Slc26a3 T C 12: 31,463,477 (GRCm38) I466T probably benign Het
Slc29a4 A T 5: 142,718,746 (GRCm38) I348F probably damaging Het
Tbl1xr1 A G 3: 22,193,171 (GRCm38) probably benign Het
Tlr5 A T 1: 182,975,398 (GRCm38) I756F probably damaging Het
Ttn T A 2: 76,730,402 (GRCm38) L29218F probably damaging Het
Ttn A T 2: 76,730,404 (GRCm38) L29218I probably damaging Het
Other mutations in Aoah
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01561:Aoah APN 13 20,905,735 (GRCm38) splice site probably benign
IGL01561:Aoah APN 13 21,005,094 (GRCm38) missense probably damaging 0.97
IGL01997:Aoah APN 13 20,999,938 (GRCm38) missense probably benign 0.00
IGL02212:Aoah APN 13 21,002,901 (GRCm38) missense probably benign 0.05
IGL02325:Aoah APN 13 20,917,125 (GRCm38) missense probably damaging 0.97
IGL03028:Aoah APN 13 20,816,582 (GRCm38) missense possibly damaging 0.62
IGL03304:Aoah APN 13 20,915,010 (GRCm38) splice site probably benign
IGL03352:Aoah APN 13 21,000,043 (GRCm38) missense probably benign 0.01
H8562:Aoah UTSW 13 20,816,524 (GRCm38) missense probably damaging 1.00
PIT4402001:Aoah UTSW 13 20,794,510 (GRCm38) missense probably benign 0.00
R0255:Aoah UTSW 13 20,979,540 (GRCm38) nonsense probably null
R0432:Aoah UTSW 13 20,911,198 (GRCm38) splice site probably benign
R0501:Aoah UTSW 13 21,005,073 (GRCm38) missense probably benign 0.16
R1036:Aoah UTSW 13 20,840,169 (GRCm38) splice site probably benign
R1119:Aoah UTSW 13 20,914,938 (GRCm38) splice site probably benign
R1203:Aoah UTSW 13 20,816,594 (GRCm38) missense probably damaging 1.00
R1589:Aoah UTSW 13 21,002,948 (GRCm38) missense probably damaging 0.99
R1662:Aoah UTSW 13 21,000,113 (GRCm38) splice site probably null
R1907:Aoah UTSW 13 20,910,094 (GRCm38) missense probably damaging 1.00
R1959:Aoah UTSW 13 20,794,394 (GRCm38) start codon destroyed probably null 0.89
R2145:Aoah UTSW 13 20,840,096 (GRCm38) missense probably damaging 1.00
R2237:Aoah UTSW 13 20,794,311 (GRCm38) start gained probably benign
R3438:Aoah UTSW 13 20,917,072 (GRCm38) missense probably benign 0.00
R4226:Aoah UTSW 13 20,979,526 (GRCm38) missense possibly damaging 0.50
R4868:Aoah UTSW 13 20,914,981 (GRCm38) nonsense probably null
R5026:Aoah UTSW 13 20,914,959 (GRCm38) missense probably damaging 1.00
R5139:Aoah UTSW 13 21,023,237 (GRCm38) missense possibly damaging 0.61
R5624:Aoah UTSW 13 20,995,479 (GRCm38) missense probably damaging 1.00
R5853:Aoah UTSW 13 20,999,902 (GRCm38) missense probably benign 0.01
R6134:Aoah UTSW 13 20,911,123 (GRCm38) missense probably damaging 1.00
R6459:Aoah UTSW 13 20,999,942 (GRCm38) missense probably damaging 0.99
R7077:Aoah UTSW 13 20,910,106 (GRCm38) missense probably damaging 1.00
R7103:Aoah UTSW 13 21,023,315 (GRCm38) missense probably damaging 1.00
R8198:Aoah UTSW 13 20,917,120 (GRCm38) missense probably damaging 1.00
R8340:Aoah UTSW 13 20,999,942 (GRCm38) missense probably damaging 0.99
R8723:Aoah UTSW 13 21,000,010 (GRCm38) missense possibly damaging 0.81
R8790:Aoah UTSW 13 20,851,670 (GRCm38) missense probably benign 0.16
R8811:Aoah UTSW 13 20,999,951 (GRCm38) missense probably damaging 1.00
R8873:Aoah UTSW 13 20,905,682 (GRCm38) missense probably benign 0.00
R8973:Aoah UTSW 13 20,840,155 (GRCm38) missense probably benign 0.00
R9015:Aoah UTSW 13 21,000,027 (GRCm38) synonymous silent
R9287:Aoah UTSW 13 21,002,709 (GRCm38) missense probably damaging 0.96
R9759:Aoah UTSW 13 20,816,568 (GRCm38) missense probably damaging 1.00
Posted On 2014-01-21