Incidental Mutation 'R7234:Acy3'
ID 562732
Institutional Source Beutler Lab
Gene Symbol Acy3
Ensembl Gene ENSMUSG00000024866
Gene Name aminoacylase 3
Synonyms 0610006H10Rik, AA3
MMRRC Submission 045304-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7234 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 4036570-4040007 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 4037758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 88 (Y88*)
Ref Sequence ENSEMBL: ENSMUSP00000050056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041871] [ENSMUST00000054030]
AlphaFold Q91XE4
PDB Structure Crystal structure of murine aminoacylase 3 in complex with N-acetyl-L-tyrosine [X-RAY DIFFRACTION]
Crystal structure of murine aminoacylase 3 [X-RAY DIFFRACTION]
Crystal structure of E177A-mutant murine aminoacylase 3 [X-RAY DIFFRACTION]
Crystal structure of murine aminoacylase 3 in complex with N-acetyl-S-1,2-dichlorovinyl-L-cysteine [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000041871
SMART Domains Protein: ENSMUSP00000037401
Gene: ENSMUSG00000037477

DomainStartEndE-ValueType
TBOX 64 257 9.2e-117 SMART
low complexity region 309 320 N/A INTRINSIC
low complexity region 331 351 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000054030
AA Change: Y88*
SMART Domains Protein: ENSMUSP00000050056
Gene: ENSMUSG00000024866
AA Change: Y88*

DomainStartEndE-ValueType
Pfam:AstE_AspA 10 300 1.6e-77 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (66/66)
MGI Phenotype FUNCTION: This gene encodes a member of the aminoacylase family of enzymes. This enzyme specifically deacetylates N-acetyl aromatic amino acids and mercapturic acids. Action of this enzyme on metabolites of the environmental contaminant trichloroethylene leads to the generation of toxic products that may lead to kidney failure. This protein has been found to bind to the hepatitis C virus core protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI606181 T A 19: 41,582,076 (GRCm39) I82N unknown Het
Akap1 T C 11: 88,729,808 (GRCm39) Y638C probably damaging Het
Angpt1 T C 15: 42,323,121 (GRCm39) N383D probably benign Het
Ank T C 15: 27,571,742 (GRCm39) probably null Het
Aoc1 C T 6: 48,882,750 (GRCm39) Q209* probably null Het
Apol7c A T 15: 77,409,875 (GRCm39) L357* probably null Het
Atxn2l A G 7: 126,092,373 (GRCm39) L958P probably damaging Het
Cab39l T A 14: 59,734,395 (GRCm39) probably null Het
Cdk5rap2 A G 4: 70,295,024 (GRCm39) probably null Het
Cdkn3 T C 14: 47,008,918 (GRCm39) S204P unknown Het
Cds2 T C 2: 132,146,400 (GRCm39) probably null Het
Cideb C T 14: 55,992,017 (GRCm39) R179H probably benign Het
Cped1 A G 6: 22,254,625 (GRCm39) Q1006R probably damaging Het
Csmd2 A G 4: 128,350,572 (GRCm39) Y1547C Het
Dicer1 A G 12: 104,675,108 (GRCm39) L718S probably damaging Het
Dnaaf9 C A 2: 130,648,708 (GRCm39) R258L unknown Het
Dyrk2 T C 10: 118,696,136 (GRCm39) H374R possibly damaging Het
Edem2 A T 2: 155,552,886 (GRCm39) Y283N probably benign Het
Ero1b A T 13: 12,615,203 (GRCm39) S345C possibly damaging Het
Fam83g T C 11: 61,593,342 (GRCm39) V292A possibly damaging Het
Farp2 A G 1: 93,507,841 (GRCm39) D513G possibly damaging Het
Fbxl5 A G 5: 43,915,562 (GRCm39) W617R probably benign Het
Fzd7 G A 1: 59,522,443 (GRCm39) V109M probably damaging Het
Gbp5 A T 3: 142,226,898 (GRCm39) H583L probably benign Het
Gm10306 T A 4: 94,445,032 (GRCm39) L84M unknown Het
Gsap A G 5: 21,391,433 (GRCm39) T25A probably benign Het
Hectd4 G T 5: 121,467,136 (GRCm39) R2466L possibly damaging Het
Ide C A 19: 37,268,184 (GRCm39) C557F Het
Ift70a2 A T 2: 75,806,540 (GRCm39) Y657* probably null Het
Igdcc4 T A 9: 65,042,750 (GRCm39) C1234* probably null Het
Ints4 A G 7: 97,179,507 (GRCm39) I701V probably benign Het
Kalrn T A 16: 33,996,792 (GRCm39) I1467F possibly damaging Het
Kcnip3 C A 2: 127,363,256 (GRCm39) R2M unknown Het
Kcnrg A T 14: 61,845,531 (GRCm39) E190D unknown Het
Klk13 T C 7: 43,370,841 (GRCm39) L131P probably damaging Het
Lhcgr A T 17: 89,099,359 (GRCm39) L14Q possibly damaging Het
Mdm4 A T 1: 132,938,853 (GRCm39) D80E probably damaging Het
Mib2 G T 4: 155,742,350 (GRCm39) Q311K probably damaging Het
Msantd5f9 G T 4: 73,835,808 (GRCm39) L219M probably benign Het
Mycbp2 A T 14: 103,452,773 (GRCm39) S1703T probably damaging Het
Naip6 A T 13: 100,452,011 (GRCm39) C200* probably null Het
Ncapd3 T A 9: 26,961,655 (GRCm39) I361N probably damaging Het
Nom1 A G 5: 29,640,451 (GRCm39) E259G probably benign Het
Or10j5 T A 1: 172,784,673 (GRCm39) F104I probably damaging Het
Or51v14 A G 7: 103,261,089 (GRCm39) L157P probably damaging Het
Plxna2 A T 1: 194,488,698 (GRCm39) H1658L probably damaging Het
Ranbp6 T C 19: 29,789,462 (GRCm39) T297A possibly damaging Het
Rap1gap T A 4: 137,455,851 (GRCm39) C722* probably null Het
Ribc2 A G 15: 85,019,733 (GRCm39) K172E probably benign Het
Scamp5 C A 9: 57,354,423 (GRCm39) W77L probably damaging Het
Scin T A 12: 40,130,957 (GRCm39) K319* probably null Het
Sec16a G T 2: 26,329,780 (GRCm39) T745K probably damaging Het
Slc15a2 G A 16: 36,578,173 (GRCm39) A403V probably benign Het
Slco6c1 A G 1: 97,053,466 (GRCm39) V145A probably benign Het
Sncaip C T 18: 53,048,416 (GRCm39) H951Y probably benign Het
Spem1 A G 11: 69,712,630 (GRCm39) probably null Het
Spen C T 4: 141,206,446 (GRCm39) R727Q unknown Het
Thra T C 11: 98,654,544 (GRCm39) S305P probably damaging Het
Tlr1 A G 5: 65,084,067 (GRCm39) V170A probably damaging Het
Tmem260 T A 14: 48,742,786 (GRCm39) C388* probably null Het
Tmem60 T A 5: 21,091,619 (GRCm39) V128D possibly damaging Het
Tpo G A 12: 30,142,685 (GRCm39) P680S probably benign Het
Umodl1 A G 17: 31,205,595 (GRCm39) E730G possibly damaging Het
Vmn2r69 T C 7: 85,056,315 (GRCm39) T608A probably benign Het
Xrra1 G A 7: 99,563,456 (GRCm39) S481N possibly damaging Het
Zc3h4 G A 7: 16,162,961 (GRCm39) V446I unknown Het
Other mutations in Acy3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0285:Acy3 UTSW 19 4,038,193 (GRCm39) missense probably benign 0.01
R1102:Acy3 UTSW 19 4,037,850 (GRCm39) missense probably damaging 1.00
R9055:Acy3 UTSW 19 4,038,178 (GRCm39) missense probably benign
R9308:Acy3 UTSW 19 4,038,451 (GRCm39) missense probably damaging 0.99
R9309:Acy3 UTSW 19 4,038,451 (GRCm39) missense probably damaging 0.99
Z1176:Acy3 UTSW 19 4,037,107 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AACATGTCAGCTTCAGGTTACTG -3'
(R):5'- TTGGAAGGTTAAGGCGAGCC -3'

Sequencing Primer
(F):5'- TGGGACTACATGGAGCATCC -3'
(R):5'- AGTACCTCAGGTGGCACTG -3'
Posted On 2019-06-26