Incidental Mutation 'PIT4402001:Aoah'
ID 555542
Institutional Source Beutler Lab
Gene Symbol Aoah
Ensembl Gene ENSMUSG00000021322
Gene Name acyloxyacyl hydrolase
Synonyms 4930433E13Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # PIT4402001 (G1)
Quality Score 200.009
Status Not validated
Chromosome 13
Chromosomal Location 20978283-21220787 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 20978680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 39 (S39R)
Ref Sequence ENSEMBL: ENSMUSP00000021757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021757] [ENSMUST00000221982]
AlphaFold O35298
Predicted Effect probably benign
Transcript: ENSMUST00000021757
AA Change: S39R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000021757
Gene: ENSMUSG00000021322
AA Change: S39R

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
Predicted Effect probably benign
Transcript: ENSMUST00000221982
AA Change: S39R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Coding Region Coverage
  • 1x: 92.8%
  • 3x: 90.3%
  • 10x: 83.2%
  • 20x: 68.1%
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
1700129C05Rik T G 14: 59,380,084 (GRCm39) L71F probably damaging Het
Adamts9 C T 6: 92,849,328 (GRCm39) V1044I probably benign Het
Alcam T C 16: 52,115,497 (GRCm39) Y207C probably damaging Het
Aldh4a1 C A 4: 139,369,502 (GRCm39) S351* probably null Het
Arcn1 A T 9: 44,656,899 (GRCm39) V421E possibly damaging Het
Ccdc18 A G 5: 108,306,485 (GRCm39) E300G possibly damaging Het
Cdk2ap2 C A 19: 4,148,557 (GRCm39) R126S probably damaging Het
Dcun1d4 A G 5: 73,668,276 (GRCm39) I39V probably benign Het
Fam53b A T 7: 132,361,746 (GRCm39) I94N probably damaging Het
Fam83g A G 11: 61,594,422 (GRCm39) H652R probably damaging Het
Fanca A T 8: 124,039,803 (GRCm39) M157K possibly damaging Het
Flt1 A T 5: 147,615,049 (GRCm39) I299N probably damaging Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gns A G 10: 121,212,611 (GRCm39) Y191C probably damaging Het
Grin2a T C 16: 9,462,063 (GRCm39) T690A possibly damaging Het
Gsk3b C T 16: 37,909,763 (GRCm39) probably benign Het
Igsf10 A G 3: 59,233,000 (GRCm39) V1911A probably benign Het
Igsf3 A G 3: 101,334,393 (GRCm39) K157E probably benign Het
Inpp5a T C 7: 139,091,369 (GRCm39) Y118H probably benign Het
Kmt2a A G 9: 44,752,359 (GRCm39) V1413A unknown Het
Mettl9 T A 7: 120,656,440 (GRCm39) V190E probably damaging Het
Mrps9 T C 1: 42,935,258 (GRCm39) L188P probably benign Het
Myo9a A T 9: 59,777,719 (GRCm39) R1158S possibly damaging Het
Nacad T G 11: 6,548,621 (GRCm39) Q1371P probably benign Het
Ncoa1 T C 12: 4,344,987 (GRCm39) M787V probably benign Het
Noxred1 A T 12: 87,273,855 (GRCm39) I62K probably benign Het
Or1j4 A T 2: 36,740,316 (GRCm39) H86L probably benign Het
Or2d3b T A 7: 106,514,294 (GRCm39) D296E possibly damaging Het
Or2y17 A G 11: 49,232,226 (GRCm39) Y289C probably damaging Het
Or52d1 A G 7: 103,755,657 (GRCm39) Y57C probably damaging Het
Otud6b A G 4: 14,818,185 (GRCm39) Y239H probably damaging Het
Pank1 A G 19: 34,818,366 (GRCm39) Y233H probably damaging Het
Pccb G T 9: 100,877,645 (GRCm39) D286E probably benign Het
Plek A C 11: 16,940,121 (GRCm39) L196R probably benign Het
Pou6f2 T C 13: 18,299,931 (GRCm39) H576R Het
Rbm47 T A 5: 66,184,354 (GRCm39) Y83F probably damaging Het
Rbm6 A T 9: 107,665,049 (GRCm39) Y787N probably damaging Het
Slc8a2 C A 7: 15,868,419 (GRCm39) A217E probably damaging Het
Suox G A 10: 128,507,164 (GRCm39) A288V probably damaging Het
Tbccd1 T C 16: 22,640,873 (GRCm39) I501M probably damaging Het
Tjp2 C A 19: 24,075,493 (GRCm39) G1042* probably null Het
Tmtc2 T C 10: 105,249,268 (GRCm39) Y155C probably damaging Het
Usp7 T C 16: 8,516,359 (GRCm39) N600S probably benign Het
Zer1 T C 2: 29,991,132 (GRCm39) I699V probably damaging Het
Zfp142 A G 1: 74,618,687 (GRCm39) F227S probably damaging Het
Other mutations in Aoah
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R7077:Aoah UTSW 13 21,094,276 (GRCm39) missense probably damaging 1.00
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'- TAACTACAGAGGGGCCAAGC -3'
(R):5'- GATACGAACGGAGCTGATCC -3'

Sequencing Primer
(F):5'- CAACATTGAGAAGTGGAGTGATCTTG -3'
(R):5'- GACAGGGTCTCAATATATAGCCCAG -3'
Posted On 2019-06-07