Incidental Mutation 'IGL01670:Acy1'
| ID |
103477 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acy1
|
| Ensembl Gene |
ENSMUSG00000023262 |
| Gene Name |
aminoacylase 1 |
| Synonyms |
Acy-1, 1110014J22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01670
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
106310180-106315518 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to C
at 106314006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024031]
[ENSMUST00000048685]
[ENSMUST00000171678]
[ENSMUST00000171925]
[ENSMUST00000185334]
[ENSMUST00000187001]
[ENSMUST00000190972]
[ENSMUST00000190798]
[ENSMUST00000187983]
[ENSMUST00000215395]
[ENSMUST00000215506]
[ENSMUST00000190803]
[ENSMUST00000216400]
[ENSMUST00000190900]
[ENSMUST00000214275]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024031
|
| SMART Domains |
Protein: ENSMUSP00000024031
Gene: ENSMUSG00000023262
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000171678
|
| SMART Domains |
Protein: ENSMUSP00000126101
Gene: ENSMUSG00000042210
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000171925
|
| SMART Domains |
Protein: ENSMUSP00000126916
Gene: ENSMUSG00000042210
| Domain | Start | End | E-Value | Type |
|---|
|
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 benign
Transcript: ENSMUST00000185334
|
| SMART Domains |
Protein: ENSMUSP00000140345
Gene: ENSMUSG00000042210
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000187001
|
| SMART Domains |
Protein: ENSMUSP00000140042
Gene: ENSMUSG00000042210
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
SCOP:d1imja_
|
51 |
110 |
1e-10 |
SMART |
|
PDB:1IMJ|A
|
58 |
110 |
6e-13 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187324
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189097
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190972
|
| SMART Domains |
Protein: ENSMUSP00000139953
Gene: ENSMUSG00000023262
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M20
|
76 |
216 |
2.9e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190851
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190798
|
| SMART Domains |
Protein: ENSMUSP00000141096
Gene: ENSMUSG00000042210
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Pfam:Hydrolase_4
|
55 |
142 |
1.7e-8 |
PFAM |
|
Pfam:Abhydrolase_5
|
73 |
157 |
1.2e-8 |
PFAM |
|
Pfam:Abhydrolase_6
|
74 |
157 |
1.4e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187983
|
| SMART Domains |
Protein: ENSMUSP00000140901
Gene: ENSMUSG00000042210
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000215395
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215506
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190803
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216400
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217531
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190900
|
| SMART Domains |
Protein: ENSMUSP00000140582
Gene: ENSMUSG00000023262
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1Q7L|C
|
1 |
50 |
9e-23 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214275
|
| Coding Region Coverage |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add1 |
C |
A |
5: 34,777,407 (GRCm39) |
Q57K |
probably damaging |
Het |
| Alms1 |
A |
G |
6: 85,655,132 (GRCm39) |
E3226G |
probably benign |
Het |
| Arl1 |
G |
T |
10: 88,577,884 (GRCm39) |
R151L |
probably damaging |
Het |
| Cabs1 |
T |
A |
5: 88,127,869 (GRCm39) |
D173E |
possibly damaging |
Het |
| Cdc34b |
T |
C |
11: 94,632,845 (GRCm39) |
L15P |
probably benign |
Het |
| Cdyl2 |
A |
G |
8: 117,351,092 (GRCm39) |
V13A |
probably damaging |
Het |
| Chd7 |
G |
T |
4: 8,827,033 (GRCm39) |
R1026L |
probably damaging |
Het |
| Cldn34b4 |
T |
C |
X: 75,441,195 (GRCm39) |
S151P |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,192,662 (GRCm39) |
I25N |
unknown |
Het |
| Crisp4 |
T |
A |
1: 18,198,901 (GRCm39) |
T178S |
probably benign |
Het |
| Csmd2 |
C |
T |
4: 128,407,164 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
G |
15: 47,475,225 (GRCm39) |
N2454H |
probably damaging |
Het |
| Cytip |
A |
T |
2: 58,023,785 (GRCm39) |
I345N |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,564,358 (GRCm39) |
S50T |
possibly damaging |
Het |
| Gm9747 |
C |
T |
1: 82,211,870 (GRCm39) |
|
probably benign |
Het |
| Gpr37 |
A |
G |
6: 25,669,833 (GRCm39) |
F337S |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,394,342 (GRCm39) |
E4182G |
probably damaging |
Het |
| Isyna1 |
C |
T |
8: 71,049,706 (GRCm39) |
P511L |
probably benign |
Het |
| Kdm4a |
T |
C |
4: 118,017,698 (GRCm39) |
Y456C |
probably damaging |
Het |
| Kera |
A |
T |
10: 97,444,939 (GRCm39) |
R99S |
possibly damaging |
Het |
| Larp7-ps |
T |
C |
4: 92,079,737 (GRCm39) |
|
probably null |
Het |
| Mcm2 |
A |
G |
6: 88,864,614 (GRCm39) |
|
probably benign |
Het |
| Myl12a |
T |
C |
17: 71,303,848 (GRCm39) |
T10A |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,550,102 (GRCm39) |
V1876A |
possibly damaging |
Het |
| Nkx6-1 |
T |
A |
5: 101,809,806 (GRCm39) |
Q247L |
probably benign |
Het |
| Nol8 |
A |
C |
13: 49,814,784 (GRCm39) |
K297N |
possibly damaging |
Het |
| Or4c119 |
T |
A |
2: 88,987,261 (GRCm39) |
Y86F |
probably benign |
Het |
| Or51e1 |
A |
T |
7: 102,358,772 (GRCm39) |
Q102L |
probably damaging |
Het |
| Or5w18 |
A |
G |
2: 87,633,224 (GRCm39) |
T164A |
probably benign |
Het |
| Pard3b |
A |
T |
1: 62,250,807 (GRCm39) |
N579Y |
probably damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,094,743 (GRCm39) |
L509H |
probably damaging |
Het |
| Prss29 |
T |
C |
17: 25,541,437 (GRCm39) |
S266P |
probably benign |
Het |
| Rapgef3 |
G |
T |
15: 97,647,543 (GRCm39) |
H766N |
probably benign |
Het |
| Rasa1 |
A |
T |
13: 85,373,609 (GRCm39) |
S818T |
probably damaging |
Het |
| Rtn4ip1 |
A |
G |
10: 43,804,322 (GRCm39) |
M1V |
probably null |
Het |
| Sall1 |
A |
T |
8: 89,758,199 (GRCm39) |
V635D |
probably benign |
Het |
| Slc35b4 |
C |
T |
6: 34,147,484 (GRCm39) |
V35I |
probably benign |
Het |
| Slc5a11 |
G |
A |
7: 122,869,172 (GRCm39) |
A587T |
probably benign |
Het |
| Slc6a21 |
T |
C |
7: 44,937,557 (GRCm39) |
V616A |
possibly damaging |
Het |
| Sorl1 |
A |
G |
9: 41,912,788 (GRCm39) |
S1398P |
possibly damaging |
Het |
| Srcap |
A |
G |
7: 127,127,604 (GRCm39) |
K390E |
probably damaging |
Het |
| Sycp2 |
C |
T |
2: 178,019,843 (GRCm39) |
E558K |
probably benign |
Het |
| Tcf20 |
T |
C |
15: 82,739,564 (GRCm39) |
N629S |
possibly damaging |
Het |
| Tmem154 |
A |
G |
3: 84,591,537 (GRCm39) |
Y29C |
probably damaging |
Het |
| Tmtc3 |
A |
G |
10: 100,282,987 (GRCm39) |
I856T |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,865,101 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Acy1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4421:Acy1
|
UTSW |
9 |
106,312,912 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation