Incidental Mutation 'R4421:Acy1'
ID 327107
Institutional Source Beutler Lab
Gene Symbol Acy1
Ensembl Gene ENSMUSG00000023262
Gene Name aminoacylase 1
Synonyms Acy-1, 1110014J22Rik
MMRRC Submission 041142-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4421 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 106310180-106315518 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to C at 106312912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000024031] [ENSMUST00000048685] [ENSMUST00000059802] [ENSMUST00000098994] [ENSMUST00000150576] [ENSMUST00000171678] [ENSMUST00000190803] [ENSMUST00000190972] [ENSMUST00000190972] [ENSMUST00000214275] [ENSMUST00000187983] [ENSMUST00000213448] [ENSMUST00000190900] [ENSMUST00000185334] [ENSMUST00000214067] [ENSMUST00000171925] [ENSMUST00000215395] [ENSMUST00000215506] [ENSMUST00000217081] [ENSMUST00000216400]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000024031
SMART Domains Protein: ENSMUSP00000024031
Gene: ENSMUSG00000023262

DomainStartEndE-ValueType
Pfam:Peptidase_M28 61 239 8.6e-8 PFAM
Pfam:Peptidase_M20 76 397 1.8e-38 PFAM
Pfam:M20_dimer 188 302 1.4e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000048685
SMART Domains Protein: ENSMUSP00000047322
Gene: ENSMUSG00000042210

DomainStartEndE-ValueType
transmembrane domain 12 29 N/A INTRINSIC
Pfam:Hydrolase_4 55 142 3.3e-10 PFAM
Pfam:Abhydrolase_5 73 227 8.1e-21 PFAM
Pfam:Abhydrolase_6 74 181 1e-14 PFAM
Pfam:Abhydrolase_6 176 238 1.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000059802
SMART Domains Protein: ENSMUSP00000080203
Gene: ENSMUSG00000048758

DomainStartEndE-ValueType
Pfam:Ribosomal_L29e 3 42 1.4e-30 PFAM
low complexity region 126 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098994
SMART Domains Protein: ENSMUSP00000096592
Gene: ENSMUSG00000048758

DomainStartEndE-ValueType
Pfam:Ribosomal_L29e 3 42 2.6e-27 PFAM
low complexity region 126 152 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000150576
SMART Domains Protein: ENSMUSP00000117834
Gene: ENSMUSG00000048758

DomainStartEndE-ValueType
Pfam:Ribosomal_L29e 3 42 9.8e-28 PFAM
low complexity region 126 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171678
SMART Domains Protein: ENSMUSP00000126101
Gene: ENSMUSG00000042210

DomainStartEndE-ValueType
transmembrane domain 12 29 N/A INTRINSIC
Pfam:Hydrolase_4 55 142 3.3e-10 PFAM
Pfam:Abhydrolase_5 73 227 8.1e-21 PFAM
Pfam:Abhydrolase_6 74 181 1e-14 PFAM
Pfam:Abhydrolase_6 176 238 1.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190803
Predicted Effect probably null
Transcript: ENSMUST00000190972
SMART Domains Protein: ENSMUSP00000139953
Gene: ENSMUSG00000023262

DomainStartEndE-ValueType
Pfam:Peptidase_M20 76 216 2.9e-24 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000190972
SMART Domains Protein: ENSMUSP00000139953
Gene: ENSMUSG00000023262

DomainStartEndE-ValueType
Pfam:Peptidase_M20 76 216 2.9e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187324
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189097
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190851
Predicted Effect probably null
Transcript: ENSMUST00000214275
Predicted Effect probably benign
Transcript: ENSMUST00000187983
SMART Domains Protein: ENSMUSP00000140901
Gene: ENSMUSG00000042210

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:Abhydrolase_5 73 203 5.4e-12 PFAM
Pfam:Abhydrolase_6 74 197 1.4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213448
Predicted Effect probably benign
Transcript: ENSMUST00000190900
SMART Domains Protein: ENSMUSP00000140582
Gene: ENSMUSG00000023262

DomainStartEndE-ValueType
PDB:1Q7L|C 1 50 9e-23 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000185334
SMART Domains Protein: ENSMUSP00000140345
Gene: ENSMUSG00000042210

DomainStartEndE-ValueType
transmembrane domain 12 29 N/A INTRINSIC
Pfam:Hydrolase_4 55 142 3.3e-10 PFAM
Pfam:Abhydrolase_5 73 227 8.1e-21 PFAM
Pfam:Abhydrolase_6 74 181 1e-14 PFAM
Pfam:Abhydrolase_6 176 238 1.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214067
Predicted Effect probably benign
Transcript: ENSMUST00000171925
SMART Domains Protein: ENSMUSP00000126916
Gene: ENSMUSG00000042210

DomainStartEndE-ValueType
transmembrane domain 12 29 N/A INTRINSIC
Pfam:Abhydrolase_5 73 245 7.9e-17 PFAM
low complexity region 253 265 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000215395
Predicted Effect probably benign
Transcript: ENSMUST00000215506
Predicted Effect probably benign
Transcript: ENSMUST00000217081
Predicted Effect probably benign
Transcript: ENSMUST00000216400
Predicted Effect probably null
Transcript: ENSMUST00000217531
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. This gene is located on chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer (SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and this enzyme is the first member of a new family of zinc-binding enzymes. Mutations in this gene cause aminoacylase-1 deficiency, a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ABHD14A (abhydrolase domain containing 14A) gene, as represented in GeneID:100526760. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,714,421 (GRCm39) E234G probably damaging Het
Aga T C 8: 53,964,861 (GRCm39) S8P probably benign Het
C1s2 T C 6: 124,602,174 (GRCm39) D673G probably benign Het
Capza3 G A 6: 139,987,768 (GRCm39) M122I probably benign Het
Cfap44 T C 16: 44,242,800 (GRCm39) S735P probably damaging Het
Cntn3 A G 6: 102,441,508 (GRCm39) F13L probably damaging Het
Col6a5 A T 9: 105,805,672 (GRCm39) M1078K unknown Het
Colgalt2 A T 1: 152,360,763 (GRCm39) I267F probably damaging Het
Cpped1 T C 16: 11,623,221 (GRCm39) *299W probably null Het
Cyp3a59 A G 5: 146,041,713 (GRCm39) probably null Het
Ddx42 T A 11: 106,121,964 (GRCm39) Y160N probably damaging Het
Dhx35 A T 2: 158,648,321 (GRCm39) R60W probably damaging Het
Gbp10 T C 5: 105,372,517 (GRCm39) probably null Het
Gtf2i T C 5: 134,283,891 (GRCm39) T467A possibly damaging Het
Hip1r G C 5: 124,135,925 (GRCm39) G542A possibly damaging Het
Hspg2 G A 4: 137,275,433 (GRCm39) A2748T probably benign Het
Kcnq3 T C 15: 65,867,360 (GRCm39) Y761C probably benign Het
Krt13 T G 11: 100,009,761 (GRCm39) T340P possibly damaging Het
Map2k5 A G 9: 63,071,412 (GRCm39) C435R probably damaging Het
Ms4a4c T A 19: 11,393,739 (GRCm39) I53K probably damaging Het
Myh15 T A 16: 48,929,707 (GRCm39) F544L probably damaging Het
Neurod2 G T 11: 98,219,026 (GRCm39) S46* probably null Het
Nsd3 T A 8: 26,131,288 (GRCm39) S218T probably damaging Het
Or2ag2 G T 7: 106,485,660 (GRCm39) D121E probably damaging Het
Or4p22 A T 2: 88,317,585 (GRCm39) N170Y probably damaging Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Prrg3 A T X: 71,010,915 (GRCm39) S141C probably damaging Het
Ranbp17 A T 11: 33,425,056 (GRCm39) D433E probably benign Het
Rbm28 T C 6: 29,154,836 (GRCm39) D278G probably damaging Het
Sbpl A G 17: 24,173,860 (GRCm39) L8P unknown Het
Spopl C T 2: 23,407,957 (GRCm39) V241M probably damaging Het
Tdrd3 A G 14: 87,723,719 (GRCm39) E311G probably damaging Het
Tma16 C T 8: 66,936,823 (GRCm39) probably null Het
Ubr4 A G 4: 139,189,167 (GRCm39) N3917D possibly damaging Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Vmn2r72 T C 7: 85,387,708 (GRCm39) N619D probably damaging Het
Xab2 C A 8: 3,664,244 (GRCm39) probably null Het
Other mutations in Acy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01670:Acy1 APN 9 106,314,006 (GRCm39) unclassified probably benign
IGL03029:Acy1 APN 9 106,312,314 (GRCm39) missense probably damaging 0.98
IGL03304:Acy1 APN 9 106,312,665 (GRCm39) critical splice donor site probably null
R0691:Acy1 UTSW 9 106,313,070 (GRCm39) splice site probably null
R2152:Acy1 UTSW 9 106,312,816 (GRCm39) missense probably damaging 1.00
R3882:Acy1 UTSW 9 106,312,708 (GRCm39) missense possibly damaging 0.75
R4019:Acy1 UTSW 9 106,313,978 (GRCm39) missense possibly damaging 0.94
R4700:Acy1 UTSW 9 106,310,782 (GRCm39) missense probably benign 0.00
R4931:Acy1 UTSW 9 106,310,390 (GRCm39) missense probably damaging 1.00
R4934:Acy1 UTSW 9 106,312,321 (GRCm39) missense probably null 1.00
R5030:Acy1 UTSW 9 106,310,596 (GRCm39) missense probably benign 0.31
R5482:Acy1 UTSW 9 106,311,838 (GRCm39) intron probably benign
R5748:Acy1 UTSW 9 106,313,926 (GRCm39) missense probably damaging 1.00
R6932:Acy1 UTSW 9 106,314,826 (GRCm39) critical splice donor site probably null
R7468:Acy1 UTSW 9 106,314,921 (GRCm39) start codon destroyed probably null 0.64
R7768:Acy1 UTSW 9 106,310,817 (GRCm39) missense possibly damaging 0.90
R8144:Acy1 UTSW 9 106,313,319 (GRCm39) splice site probably null
R8226:Acy1 UTSW 9 106,314,857 (GRCm39) missense probably damaging 0.98
R8692:Acy1 UTSW 9 106,310,377 (GRCm39) missense probably damaging 1.00
R8774:Acy1 UTSW 9 106,313,913 (GRCm39) missense probably damaging 1.00
R8774-TAIL:Acy1 UTSW 9 106,313,913 (GRCm39) missense probably damaging 1.00
R9112:Acy1 UTSW 9 106,311,952 (GRCm39) missense probably benign 0.01
R9491:Acy1 UTSW 9 106,312,994 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGTAAAGGCATCCGTGG -3'
(R):5'- TGCACACCCTGAGCACTTAG -3'

Sequencing Primer
(F):5'- AAAGGCATCCGTGGGGTTG -3'
(R):5'- GCCTCTGCTTCCTTAGGTACCTG -3'
Posted On 2015-07-07