Incidental Mutation 'R8790:Aoah'
ID 670896
Institutional Source Beutler Lab
Gene Symbol Aoah
Ensembl Gene ENSMUSG00000021322
Gene Name acyloxyacyl hydrolase
Synonyms 4930433E13Rik
MMRRC Submission 068634-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8790 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 20978283-21220787 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 21035840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 140 (R140C)
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
AA Change: R140C

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (83/83)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik G A 10: 78,928,285 (GRCm39) P68S possibly damaging Het
Abcb5 T A 12: 118,831,620 (GRCm39) N1244I possibly damaging Het
Abcb9 A G 5: 124,215,304 (GRCm39) I479T probably damaging Het
Abi3bp A T 16: 56,495,437 (GRCm39) I920F probably damaging Het
Adcy6 T A 15: 98,496,881 (GRCm39) T465S probably damaging Het
Ankrd12 A T 17: 66,290,153 (GRCm39) I1760N possibly damaging Het
Bmp7 T A 2: 172,712,060 (GRCm39) D388V probably benign Het
Bphl C T 13: 34,244,468 (GRCm39) A195V probably benign Het
Cckar A G 5: 53,857,291 (GRCm39) V373A probably damaging Het
Cd79b T G 11: 106,202,873 (GRCm39) D243A possibly damaging Het
Cdc25a T A 9: 109,716,416 (GRCm39) probably null Het
Cfap57 T A 4: 118,439,111 (GRCm39) Q805L possibly damaging Het
Ckap2l A T 2: 129,111,172 (GRCm39) M675K possibly damaging Het
Cluap1 T A 16: 3,735,787 (GRCm39) probably benign Het
Cyp2b9 A G 7: 25,898,167 (GRCm39) probably benign Het
D930020B18Rik G A 10: 121,503,568 (GRCm39) G248S possibly damaging Het
Ddx1 A T 12: 13,273,993 (GRCm39) I570N probably damaging Het
Dmkn G A 7: 30,463,449 (GRCm39) S34N probably benign Het
Dnaaf2 T C 12: 69,244,068 (GRCm39) D331G probably damaging Het
Dnah1 A T 14: 31,018,232 (GRCm39) Y1429N possibly damaging Het
Dnajc5b T A 3: 19,600,981 (GRCm39) L26Q probably damaging Het
Epb41l1 T G 2: 156,345,722 (GRCm39) F242V possibly damaging Het
Esam A T 9: 37,442,927 (GRCm39) I72F probably benign Het
Fam110a C T 2: 151,812,338 (GRCm39) R144H probably damaging Het
Fam186a T C 15: 99,841,024 (GRCm39) D1740G possibly damaging Het
Fam98a A G 17: 75,854,684 (GRCm39) F42L possibly damaging Het
Fras1 C T 5: 96,903,236 (GRCm39) P3038S probably damaging Het
Gm32742 C A 9: 51,059,140 (GRCm39) G1035C probably damaging Het
Irf5 T A 6: 29,535,026 (GRCm39) probably benign Het
Jam2 T A 16: 84,606,259 (GRCm39) I91K possibly damaging Het
Klhdc3 A G 17: 46,991,626 (GRCm39) probably benign Het
Lgi1 C T 19: 38,289,296 (GRCm39) S215F possibly damaging Het
Lrp1 G A 10: 127,374,946 (GRCm39) T4504I probably damaging Het
Mafa T A 15: 75,619,224 (GRCm39) H183L probably benign Het
Map2 T C 1: 66,477,997 (GRCm39) V1773A probably damaging Het
Mesp1 G A 7: 79,442,825 (GRCm39) R151* probably null Het
Mphosph9 T C 5: 124,453,736 (GRCm39) D192G probably damaging Het
Mthfr C A 4: 148,139,991 (GRCm39) D678E probably benign Het
Myo15a A C 11: 60,367,362 (GRCm39) T41P possibly damaging Het
Myo15a G T 11: 60,378,047 (GRCm39) R185L Het
Myom2 T G 8: 15,169,242 (GRCm39) L1136W probably damaging Het
Naa30 A G 14: 49,418,208 (GRCm39) D316G probably benign Het
Ngef T C 1: 87,405,319 (GRCm39) Q697R probably benign Het
Nin T C 12: 70,067,793 (GRCm39) R1945G Het
Obox8 A T 7: 14,066,908 (GRCm39) Y45* probably null Het
Ocln C T 13: 100,642,727 (GRCm39) V452I probably benign Het
Oog3 T A 4: 143,885,710 (GRCm39) D296V possibly damaging Het
Or5a1 T C 19: 12,097,906 (GRCm39) N57D probably damaging Het
Or5h19 T C 16: 58,856,580 (GRCm39) I173M possibly damaging Het
Or8g4 T A 9: 39,662,204 (GRCm39) I174K probably damaging Het
Or8k35 T C 2: 86,424,278 (GRCm39) K298R possibly damaging Het
Papln T C 12: 83,823,918 (GRCm39) V499A probably benign Het
Paxip1 G T 5: 27,977,078 (GRCm39) P328Q unknown Het
Pcnx2 T C 8: 126,604,306 (GRCm39) H650R probably benign Het
Pcnx3 A T 19: 5,735,206 (GRCm39) V540E possibly damaging Het
Pnpla5 C T 15: 84,002,819 (GRCm39) G255R probably damaging Het
Ppdpf G T 2: 180,829,646 (GRCm39) E34* probably null Het
Pum3 T C 19: 27,394,199 (GRCm39) Y357C probably damaging Het
R3hdm2 T G 10: 127,293,521 (GRCm39) S142A probably damaging Het
Rasa3 A T 8: 13,727,391 (GRCm39) probably null Het
Rcor2 T A 19: 7,246,340 (GRCm39) M5K possibly damaging Het
Rere A G 4: 150,593,332 (GRCm39) T309A unknown Het
Ryr1 A T 7: 28,776,297 (GRCm39) I2250N probably damaging Het
Sema6c T C 3: 95,075,341 (GRCm39) V130A probably benign Het
Slc26a9 T A 1: 131,683,155 (GRCm39) S200T probably damaging Het
Slc38a10 A G 11: 120,023,519 (GRCm39) L299P possibly damaging Het
Smim10l1 G T 6: 133,084,848 (GRCm39) V72L unknown Het
Sptbn2 C A 19: 4,782,052 (GRCm39) F430L probably damaging Het
Svep1 T A 4: 58,118,145 (GRCm39) Y859F possibly damaging Het
Svil C A 18: 5,056,098 (GRCm39) Q324K possibly damaging Het
Tgfb1i1 A T 7: 127,852,049 (GRCm39) D377V probably damaging Het
Tmed10 C A 12: 85,390,254 (GRCm39) W203L probably damaging Het
Tmem51 T A 4: 141,765,056 (GRCm39) M1L possibly damaging Het
Tmprss11e A G 5: 86,855,259 (GRCm39) V382A probably benign Het
Tnfrsf13b G T 11: 61,038,350 (GRCm39) R211L possibly damaging Het
Tns3 A G 11: 8,468,273 (GRCm39) V317A probably damaging Het
Top3a G A 11: 60,631,363 (GRCm39) P1000S possibly damaging Het
Traj32 A T 14: 54,423,587 (GRCm39) I10F Het
Trav8-1 T A 14: 53,707,677 (GRCm39) C106S probably damaging Het
Trbv2 A G 6: 41,024,655 (GRCm39) I24V probably benign Het
Ubap2 A G 4: 41,209,351 (GRCm39) probably null Het
Vmn2r97 T A 17: 19,160,472 (GRCm39) C536S probably damaging Het
Zfp879 G T 11: 50,723,429 (GRCm39) C542* probably null Het
Znfx1 C T 2: 166,892,500 (GRCm39) probably benign 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
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
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'- GATGATGGCCTTCCCTTCTG -3'
(R):5'- TGAGCAGTGGTCAACCCTAG -3'

Sequencing Primer
(F):5'- CTATGCATGAGGGCTACTGATAC -3'
(R):5'- AGCAGTGGTCAACCCTAGATTTTG -3'
Posted On 2021-04-30