Incidental Mutation 'R2237:Aoah'
ID 240491
Institutional Source Beutler Lab
Gene Symbol Aoah
Ensembl Gene ENSMUSG00000021322
Gene Name acyloxyacyl hydrolase
Synonyms 4930433E13Rik
MMRRC Submission 040237-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2237 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 20978283-21220787 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) G to A at 20978481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021757] [ENSMUST00000221982]
AlphaFold O35298
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
Predicted Effect probably benign
Transcript: ENSMUST00000221982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223364
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T C 8: 25,136,303 (GRCm39) E406G probably benign Het
Alox8 A C 11: 69,076,597 (GRCm39) S572A probably benign Het
Arhgap36 G T X: 48,582,282 (GRCm39) V60L possibly damaging Het
Arhgef37 T A 18: 61,637,477 (GRCm39) Y395F probably damaging Het
Bard1 G A 1: 71,114,135 (GRCm39) P282L probably damaging Het
Brd7 T A 8: 89,073,541 (GRCm39) E283V probably benign Het
Btbd9 T C 17: 30,553,302 (GRCm39) I387V probably benign Het
Cacna1a T C 8: 85,360,394 (GRCm39) probably null Het
Cacna1c T C 6: 118,629,704 (GRCm39) Q1205R possibly damaging Het
Camsap2 A T 1: 136,273,069 (GRCm39) L36Q probably damaging Het
Ccnj T C 19: 40,834,219 (GRCm39) F261L probably benign Het
Cd200r4 T A 16: 44,641,260 (GRCm39) M1K probably null Het
Cdca7l A G 12: 117,837,761 (GRCm39) E237G probably damaging Het
Cep128 T C 12: 91,314,341 (GRCm39) T146A probably benign Het
Clhc1 T G 11: 29,519,329 (GRCm39) S379A probably benign Het
Dbf4 T A 5: 8,458,542 (GRCm39) I158L possibly damaging Het
Deup1 A C 9: 15,486,597 (GRCm39) I455S probably damaging Het
Dlec1 T C 9: 118,967,259 (GRCm39) probably null Het
Eomes A G 9: 118,311,359 (GRCm39) D394G probably damaging Het
Epn1 A G 7: 5,100,601 (GRCm39) N518S probably damaging Het
Espl1 G A 15: 102,224,004 (GRCm39) R1185H probably damaging Het
Evc2 T C 5: 37,535,527 (GRCm39) S401P probably benign Het
Fbxw15 A G 9: 109,384,303 (GRCm39) S403P probably damaging Het
Hsd17b1 G A 11: 100,970,652 (GRCm39) V236M probably damaging Het
Htatsf1 G T X: 56,111,864 (GRCm39) D642Y unknown Het
Iqca1l A T 5: 24,753,292 (GRCm39) N453K probably benign Het
Itpripl2 T C 7: 118,089,294 (GRCm39) T422A probably benign Het
Izumo4 T C 10: 80,538,664 (GRCm39) S39P probably damaging Het
Kcnh5 T A 12: 75,054,493 (GRCm39) M484L probably benign Het
Kctd8 T A 5: 69,267,752 (GRCm39) I453F probably damaging Het
Kif5c A G 2: 49,584,020 (GRCm39) T152A probably benign Het
Kntc1 T C 5: 123,941,733 (GRCm39) V1809A possibly damaging Het
L3mbtl2 A T 15: 81,568,531 (GRCm39) T512S probably benign Het
Ltbp1 C A 17: 75,617,158 (GRCm39) D1032E probably benign Het
Mindy4 T C 6: 55,278,055 (GRCm39) F633S probably damaging Het
Muc5b T G 7: 141,415,826 (GRCm39) I2924S probably benign Het
Nfe2l2 G A 2: 75,506,898 (GRCm39) P401S probably benign Het
Nid1 T C 13: 13,675,070 (GRCm39) V930A probably benign Het
Nt5c1b C A 12: 10,425,558 (GRCm39) T309K probably damaging Het
Nt5m A G 11: 59,743,696 (GRCm39) K108R probably benign Het
Or10v5 T C 19: 11,805,814 (GRCm39) D192G probably damaging Het
Or13p3 A G 4: 118,567,192 (GRCm39) D196G probably damaging Het
Osbpl9 T A 4: 109,013,854 (GRCm39) Q80L probably damaging Het
Osm A G 11: 4,188,505 (GRCm39) N44S possibly damaging Het
Pclo C T 5: 14,763,952 (GRCm39) P4142S unknown Het
Pdlim2 T G 14: 70,408,698 (GRCm39) T173P probably benign Het
Pex1 T C 5: 3,668,915 (GRCm39) probably null Het
Phka2 A G X: 159,324,408 (GRCm39) E254G probably damaging Het
Pik3cb A G 9: 98,923,081 (GRCm39) Y984H probably damaging Het
Plscr2 T C 9: 92,172,877 (GRCm39) C179R probably damaging Het
Rbpms2 C A 9: 65,558,893 (GRCm39) Y183* probably null Het
Ryr2 T A 13: 11,677,146 (GRCm39) E3235V probably benign Het
Sesn3 T C 9: 14,219,761 (GRCm39) V50A probably benign Het
Siglecf T C 7: 43,004,409 (GRCm39) V246A probably benign Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Spata31e2 A T 1: 26,724,241 (GRCm39) M313K possibly damaging Het
Spata4 A C 8: 55,055,664 (GRCm39) K185T probably benign Het
Spin2c A G X: 152,616,672 (GRCm39) I162V probably damaging Het
Stac G A 9: 111,519,190 (GRCm39) probably benign Het
Tas1r3 A T 4: 155,946,675 (GRCm39) M310K possibly damaging Het
Tenm3 G A 8: 48,795,372 (GRCm39) P585L probably damaging Het
Tnfsf11 A T 14: 78,537,421 (GRCm39) S81T possibly damaging Het
Topaz1 C T 9: 122,600,212 (GRCm39) T984I probably benign Het
Ttll2 G A 17: 7,619,522 (GRCm39) T135I probably benign Het
Ubr4 A G 4: 139,170,101 (GRCm39) S1584G probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn2r80 G A 10: 79,004,104 (GRCm39) E106K probably damaging Het
Xpc T C 6: 91,475,090 (GRCm39) H643R probably damaging Het
Zan G A 5: 137,456,099 (GRCm39) Q1354* probably null Het
Zpld2 A C 4: 133,929,516 (GRCm39) M263R unknown 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
PIT4402001:Aoah UTSW 13 20,978,680 (GRCm39) missense probably benign 0.00
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
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'- TCTGTCAATGTGCAACTCGGG -3'
(R):5'- AGCTTTGGCCATGGGAGTAG -3'

Sequencing Primer
(F):5'- CAATGTGCAACTCGGGTATTTC -3'
(R):5'- CATGGGAGTAGCTGTCACCTG -3'
Posted On 2014-10-15