Incidental Mutation 'R1102:Acy3'
ID 98221
Institutional Source Beutler Lab
Gene Symbol Acy3
Ensembl Gene ENSMUSG00000024866
Gene Name aminoacylase 3
Synonyms 0610006H10Rik, AA3
MMRRC Submission 039175-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1102 (G1)
Quality Score 150
Status Validated
Chromosome 19
Chromosomal Location 4036570-4040007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4037850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 119 (T119I)
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 damaging
Transcript: ENSMUST00000054030
AA Change: T119I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050056
Gene: ENSMUSG00000024866
AA Change: T119I

DomainStartEndE-ValueType
Pfam:AstE_AspA 10 300 1.6e-77 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 88.8%
Validation Efficiency 98% (60/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik C T 17: 9,211,460 (GRCm39) T203M probably damaging Het
Ccdc6 C A 10: 70,023,636 (GRCm39) H400Q possibly damaging Het
Ccna1 T C 3: 54,958,281 (GRCm39) D134G probably damaging Het
Cct2 A T 10: 116,896,545 (GRCm39) probably null Het
Cd36 A G 5: 18,019,211 (GRCm39) F170S possibly damaging Het
Cep350 G A 1: 155,807,264 (GRCm39) P718S probably damaging Het
Cimip1 T A 2: 173,364,516 (GRCm39) D20E probably damaging Het
Ctnna3 A T 10: 64,421,774 (GRCm39) I523L probably benign Het
Dnah1 G T 14: 31,018,414 (GRCm39) Y1405* probably null Het
Dnah8 T A 17: 31,073,738 (GRCm39) probably null Het
Drd3 T C 16: 43,582,846 (GRCm39) L113S probably damaging Het
Emsy T C 7: 98,251,796 (GRCm39) T735A probably damaging Het
Epha5 A G 5: 84,381,434 (GRCm39) probably benign Het
Ezhip GTCATCATCATCATC GTCATCATCATCATCATC X: 5,994,645 (GRCm39) probably benign Het
Fbxo10 A G 4: 45,043,672 (GRCm39) L717P probably damaging Het
Galnt10 T C 11: 57,671,871 (GRCm39) probably benign Het
Gle1 T G 2: 29,834,066 (GRCm39) I437M possibly damaging Het
Gpr137b T C 13: 13,539,616 (GRCm39) probably benign Het
Gsta1 T C 9: 78,149,777 (GRCm39) F197L probably damaging Het
Icam1 G A 9: 20,939,132 (GRCm39) V502M possibly damaging Het
Ido1 T A 8: 25,083,156 (GRCm39) I90F probably damaging Het
Il4ra G A 7: 125,173,889 (GRCm39) probably null Het
Med12l T A 3: 59,152,257 (GRCm39) M1014K probably damaging Het
Mmp13 A G 9: 7,272,952 (GRCm39) E104G possibly damaging Het
Mms19 T C 19: 41,939,284 (GRCm39) E495G possibly damaging Het
Mrc2 A G 11: 105,231,647 (GRCm39) I820V probably benign Het
Naip6 T C 13: 100,440,923 (GRCm39) K286E possibly damaging Het
Ndrg1 T C 15: 66,816,685 (GRCm39) Y110C probably damaging Het
Or1e1c G A 11: 73,265,700 (GRCm39) V45I probably benign Het
Or4a78 A T 2: 89,497,814 (GRCm39) C139S probably damaging Het
Or5b118 T C 19: 13,448,771 (GRCm39) C146R probably damaging Het
Or5b3 G A 19: 13,388,454 (GRCm39) V174M probably damaging Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pdzd4 G A X: 72,839,052 (GRCm39) R419C probably damaging Het
Pnpla7 G T 2: 24,886,177 (GRCm39) M3I probably damaging Het
Popdc3 A G 10: 45,192,642 (GRCm39) probably benign Het
Ppp5c A G 7: 16,756,368 (GRCm39) F112S probably benign Het
Rbp3 A G 14: 33,678,313 (GRCm39) T754A possibly damaging Het
Reep6 A G 10: 80,171,080 (GRCm39) T319A probably benign Het
Rfx3 A G 19: 27,845,000 (GRCm39) V43A possibly damaging Het
Rint1 A G 5: 24,010,565 (GRCm39) probably benign Het
Sacm1l T G 9: 123,411,363 (GRCm39) V384G probably damaging Het
Shox2 A T 3: 66,885,628 (GRCm39) L149Q probably damaging Het
Sipa1 T C 19: 5,702,782 (GRCm39) H805R probably benign Het
Skic2 T C 17: 35,059,082 (GRCm39) D1095G probably benign Het
Slc5a3 G T 16: 91,874,765 (GRCm39) W274L probably damaging Het
Spata31e4 A G 13: 50,857,118 (GRCm39) T919A probably benign Het
Sptbn1 G T 11: 30,070,785 (GRCm39) H1524Q possibly damaging Het
Ssr1 G T 13: 38,171,591 (GRCm39) Q149K probably benign Het
Taf7l2 T C 10: 115,949,299 (GRCm39) S76G probably damaging Het
Thsd7a T C 6: 12,555,701 (GRCm39) D61G possibly damaging Het
Tmem245 T C 4: 56,903,200 (GRCm39) probably benign Het
Tmem74 T C 15: 43,730,186 (GRCm39) T286A probably benign Het
Tnc T C 4: 63,938,705 (GRCm39) N45D probably benign Het
Trdmt1 T G 2: 13,528,225 (GRCm39) probably benign Het
Uty A T Y: 1,174,741 (GRCm39) Y220N probably damaging Het
Vdr T C 15: 97,757,002 (GRCm39) Y290C probably damaging Het
Vmn2r19 T A 6: 123,313,132 (GRCm39) M734K probably benign Het
Vmn2r53 T C 7: 12,332,410 (GRCm39) D413G possibly damaging Het
Vps45 A G 3: 95,950,253 (GRCm39) probably benign Het
Other mutations in Acy3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0285:Acy3 UTSW 19 4,038,193 (GRCm39) missense probably benign 0.01
R7234:Acy3 UTSW 19 4,037,758 (GRCm39) nonsense probably null
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'- CCCACCAAAGGTGAGAAGTTAGCC -3'
(R):5'- TAGATTCCACGCTGAAGGTCTCCG -3'

Sequencing Primer
(F):5'- TTAGCCAAGGAAAGGGAGACTG -3'
(R):5'- AACTGAGGCACTGACGCTG -3'
Posted On 2014-01-05