Incidental Mutation 'IGL02325:Aoah'
ID288436
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 #IGL02325
Quality Score
Status
Chromosome13
Chromosomal Location20794113-21036617 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 20917125 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 272 (E272K)
Ref Sequence ENSEMBL: ENSMUSP00000021757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021757]
Predicted Effect probably damaging
Transcript: ENSMUST00000021757
AA Change: E272K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021757
Gene: ENSMUSG00000021322
AA Change: E272K

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acads A T 5: 115,111,954 I233N probably damaging Het
Agtpbp1 C T 13: 59,500,489 G393S probably benign Het
Ahctf1 T C 1: 179,776,015 D822G probably benign Het
Alpk1 T C 3: 127,679,903 N817S probably benign Het
Aoc1 A G 6: 48,905,895 D235G possibly damaging Het
Ccdc186 G T 19: 56,813,356 Q110K probably benign Het
Celsr2 G T 3: 108,412,871 T875K probably damaging Het
Chdh T C 14: 30,032,825 V264A probably benign Het
Col15a1 A G 4: 47,289,364 T854A probably damaging Het
Cuedc1 A T 11: 88,170,173 E114V probably null Het
Ddx23 A T 15: 98,647,193 D677E possibly damaging Het
Ddx24 A G 12: 103,416,266 V640A probably damaging Het
Ddx25 T C 9: 35,554,508 probably benign Het
Ddx43 T C 9: 78,402,490 probably benign Het
Diaph1 T C 18: 37,853,600 K1111E probably damaging Het
Dnah9 T C 11: 65,834,217 D4370G probably damaging Het
Eef1e1 A T 13: 38,656,036 probably benign Het
Egfem1 T C 3: 29,151,917 I101T probably benign Het
Gpr142 G T 11: 114,806,121 L164F probably damaging Het
Gtf2h5 T A 17: 6,080,831 probably null Het
Hap1 T A 11: 100,354,364 probably null Het
Hemgn T G 4: 46,396,085 I384L probably benign Het
Ints3 A T 3: 90,404,042 H419Q probably damaging Het
Itgb2 T C 10: 77,547,192 L132P probably damaging Het
Krtap29-1 C T 11: 99,978,333 V241M probably damaging Het
Lrguk A G 6: 34,129,179 E713G probably benign Het
Lrrk2 G T 15: 91,726,308 probably null Het
Nlrp14 A G 7: 107,182,316 D240G possibly damaging Het
Olfr1113 G T 2: 87,213,506 G205W probably damaging Het
Omt2b A T 9: 78,328,572 T60S possibly damaging Het
Pcdhb2 A G 18: 37,296,680 N569D possibly damaging Het
Plcd3 G A 11: 103,080,621 R66* probably null Het
Polr1a G A 6: 71,920,657 R212Q probably benign Het
Pou3f2 A T 4: 22,487,020 L371Q probably damaging Het
Rnf207 A T 4: 152,311,780 I509N probably damaging Het
Sema5a T G 15: 32,686,831 S1030A possibly damaging Het
Shank1 C A 7: 44,327,080 S534* probably null Het
Sntg2 T C 12: 30,195,543 T495A probably benign Het
Spem2 A T 11: 69,816,963 V392D probably benign Het
Srrm2 T A 17: 23,810,479 probably benign Het
Tbc1d8 A T 1: 39,394,240 F287Y probably damaging Het
Tgfbi A G 13: 56,631,230 D422G probably benign Het
Tppp G A 13: 74,021,176 A12T probably benign Het
Usp46 C T 5: 74,037,028 probably null Het
Zdhhc12 C T 2: 30,091,436 V205I probably damaging 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
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 On2015-04-16