Incidental Mutation 'IGL03352:Aoah'
ID419742
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 #IGL03352
Quality Score
Status
Chromosome13
Chromosomal Location20794113-21036617 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 21000043 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 426 (S426G)
Ref Sequence ENSEMBL: ENSMUSP00000021757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021757]
Predicted Effect probably benign
Transcript: ENSMUST00000021757
AA Change: S426G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000021757
Gene: ENSMUSG00000021322
AA Change: S426G

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap3 T C 18: 37,981,302 probably benign Het
Arhgap45 T A 10: 80,030,751 N1029K probably damaging Het
Arhgef10l A T 4: 140,583,931 M1K probably null Het
Bloc1s6 T C 2: 122,742,718 L71P probably damaging Het
Ccer1 G T 10: 97,693,577 R34M unknown Het
Cd44 T C 2: 102,845,414 probably benign Het
Col17a1 T C 19: 47,681,375 probably null Het
Cspp1 A G 1: 10,047,437 E38G possibly damaging Het
Dock10 A T 1: 80,606,296 probably benign Het
Dsg3 A T 18: 20,527,632 M343L probably benign Het
Eif3l G A 15: 79,077,051 probably benign Het
Fcrl1 T C 3: 87,385,091 L150P probably benign Het
Flg2 T G 3: 93,202,494 S610A unknown Het
Grin3b C T 10: 79,973,781 R374C probably damaging Het
H2-Oa A T 17: 34,094,403 I143F probably damaging Het
Itgae C T 11: 73,131,730 P924S probably damaging Het
Itpr2 T A 6: 146,157,104 D2521V probably damaging Het
Laptm4a G A 12: 8,931,719 G143D probably benign Het
Lrp6 T C 6: 134,479,763 Y846C probably damaging Het
Mcm10 A T 2: 4,994,596 S749T probably damaging Het
Nemf T C 12: 69,331,905 N548D probably damaging Het
Nlrp4e T A 7: 23,320,826 L246Q probably damaging Het
Nsun6 A T 2: 14,996,346 C466* probably null Het
Olfm2 T C 9: 20,668,723 D252G probably damaging Het
Olfr112 T A 17: 37,563,790 I174F probably damaging Het
Olfr1499 T C 19: 13,814,928 I221V probably damaging Het
Olfr16 A C 1: 172,957,283 M163L probably benign Het
Olfr91 G A 17: 37,093,419 L152F probably benign Het
Pcdhb14 C T 18: 37,449,004 R388C possibly damaging Het
Piwil1 C T 5: 128,751,072 T712I probably benign Het
Piwil4 G T 9: 14,725,887 T377K probably damaging Het
Prg3 T C 2: 84,993,026 F182L probably damaging Het
Ptgds T C 2: 25,469,610 T22A probably benign Het
Retsat T C 6: 72,598,683 V19A probably damaging Het
Rpl21-ps4 A T 14: 11,227,760 noncoding transcript Het
Sh3glb2 A G 2: 30,345,351 V370A probably damaging Het
Skint4 G T 4: 112,165,686 W459C possibly damaging Het
Slco1a1 T A 6: 141,911,885 R573S probably benign Het
Smgc T C 15: 91,860,678 S694P probably damaging Het
Spaca6 A G 17: 17,838,139 Y7C probably damaging Het
Spn T C 7: 127,137,006 T110A probably benign Het
Ssfa2 T A 2: 79,645,101 M468K probably damaging Het
Tepsin C T 11: 120,091,877 V456I probably benign Het
Tex261 C T 6: 83,771,267 R171Q possibly damaging Het
Tmem184a A T 5: 139,813,000 F65I probably damaging Het
Tpm3 G A 3: 90,087,745 probably null Het
Tubgcp2 T A 7: 140,001,027 H671L probably benign Het
Unc13b T G 4: 43,237,110 D3393E possibly damaging Het
Vcan T A 13: 89,705,006 M612L probably benign Het
Vmn1r180 C A 7: 23,952,652 S80* probably null Het
Vmn1r64 C T 7: 5,884,071 V158I probably benign Het
Vps13d C T 4: 145,167,502 V496I possibly damaging Het
Wee2 T G 6: 40,452,655 probably null Het
Zfp804b T C 5: 6,770,039 N972S probably benign Het
Other mutations in Aoah
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01561:Aoah APN 13 21005094 missense probably damaging 0.97
IGL01561:Aoah APN 13 20905735 splice site probably benign
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
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 On2016-08-02