Incidental Mutation 'R5748:Acy1'
ID |
445872 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acy1
|
Ensembl Gene |
ENSMUSG00000023262 |
Gene Name |
aminoacylase 1 |
Synonyms |
Acy-1, 1110014J22Rik |
MMRRC Submission |
043355-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5748 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
106310180-106315518 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 106313926 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 78
(N78I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150039
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024031]
[ENSMUST00000048685]
[ENSMUST00000171678]
[ENSMUST00000171925]
[ENSMUST00000185334]
[ENSMUST00000187001]
[ENSMUST00000190972]
[ENSMUST00000215506]
[ENSMUST00000215395]
[ENSMUST00000216400]
[ENSMUST00000190803]
[ENSMUST00000190798]
[ENSMUST00000190900]
[ENSMUST00000214275]
[ENSMUST00000187983]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024031
AA Change: N78I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000024031 Gene: ENSMUSG00000023262 AA Change: N78I
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 |
probably damaging
Transcript: ENSMUST00000190972
AA Change: N78I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139953 Gene: ENSMUSG00000023262 AA Change: N78I
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M20
|
76 |
216 |
2.9e-24 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189097
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190851
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215506
AA Change: N78I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215395
AA Change: N78I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216400
AA Change: N78I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190803
|
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: 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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217531
|
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 |
|
Meta Mutation Damage Score |
0.6207 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
98% (58/59) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
G |
7: 78,739,447 (GRCm39) |
Q285R |
probably damaging |
Het |
Anln |
T |
C |
9: 22,249,230 (GRCm39) |
K166E |
probably damaging |
Het |
C1qtnf4 |
A |
G |
2: 90,719,877 (GRCm39) |
D50G |
probably damaging |
Het |
Cntnap2 |
A |
G |
6: 45,692,818 (GRCm39) |
T100A |
probably damaging |
Het |
Cxcr6 |
C |
T |
9: 123,639,406 (GRCm39) |
R143C |
probably damaging |
Het |
Dhx16 |
T |
C |
17: 36,194,206 (GRCm39) |
L439P |
probably damaging |
Het |
Dlk1 |
T |
C |
12: 109,425,898 (GRCm39) |
V257A |
probably benign |
Het |
Ebpl |
A |
T |
14: 61,597,793 (GRCm39) |
L16Q |
probably null |
Het |
Eml5 |
T |
A |
12: 98,791,814 (GRCm39) |
Y1234F |
probably damaging |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gria1 |
A |
G |
11: 57,200,702 (GRCm39) |
D793G |
probably benign |
Het |
Gtse1 |
T |
C |
15: 85,751,778 (GRCm39) |
Y324H |
probably benign |
Het |
Hcn1 |
A |
T |
13: 118,112,591 (GRCm39) |
S852C |
probably damaging |
Het |
Invs |
A |
G |
4: 48,307,823 (GRCm39) |
T83A |
probably damaging |
Het |
Iqgap3 |
T |
C |
3: 88,016,677 (GRCm39) |
L155P |
probably damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lrrc14b |
T |
A |
13: 74,511,759 (GRCm39) |
D107V |
probably damaging |
Het |
Mcm9 |
A |
T |
10: 53,501,825 (GRCm39) |
H253Q |
probably damaging |
Het |
Mcmdc2 |
A |
G |
1: 9,982,032 (GRCm39) |
Y30C |
probably damaging |
Het |
Mdga1 |
C |
T |
17: 30,069,525 (GRCm39) |
D174N |
probably benign |
Het |
Med13l |
G |
A |
5: 118,731,510 (GRCm39) |
R62H |
probably damaging |
Het |
Mrgpra2b |
A |
G |
7: 47,152,280 (GRCm39) |
|
probably benign |
Het |
Nacad |
T |
A |
11: 6,548,370 (GRCm39) |
K1426* |
probably null |
Het |
Ndufb6 |
A |
G |
4: 40,279,234 (GRCm39) |
L35S |
probably damaging |
Het |
Niban2 |
A |
T |
2: 32,809,581 (GRCm39) |
K260M |
probably damaging |
Het |
Nkapl |
A |
G |
13: 21,651,779 (GRCm39) |
I278T |
probably benign |
Het |
Nrbp2 |
T |
C |
15: 75,961,332 (GRCm39) |
E263G |
probably damaging |
Het |
Nup85 |
T |
A |
11: 115,471,338 (GRCm39) |
L110Q |
probably damaging |
Het |
Or14c40 |
A |
G |
7: 86,313,293 (GRCm39) |
N141S |
possibly damaging |
Het |
Or1e35 |
A |
G |
11: 73,797,721 (GRCm39) |
I199T |
probably damaging |
Het |
Or2t6 |
T |
C |
14: 14,175,314 (GRCm38) |
Y256C |
probably damaging |
Het |
Or4a78 |
A |
T |
2: 89,498,146 (GRCm39) |
M28K |
possibly damaging |
Het |
Or5b12 |
T |
A |
19: 12,897,379 (GRCm39) |
Q98L |
probably damaging |
Het |
Or6b2b |
T |
A |
1: 92,418,815 (GRCm39) |
I221F |
probably damaging |
Het |
Polr2m |
C |
T |
9: 71,390,918 (GRCm39) |
D95N |
probably benign |
Het |
Popdc2 |
A |
T |
16: 38,194,665 (GRCm39) |
D362V |
probably damaging |
Het |
Pot1a |
A |
T |
6: 25,758,855 (GRCm39) |
I308N |
possibly damaging |
Het |
Rsf1 |
GCGGCGGC |
GCGGCGGCGTCGGCGGC |
7: 97,229,135 (GRCm39) |
|
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Rundc3a |
G |
A |
11: 102,290,225 (GRCm39) |
E189K |
possibly damaging |
Het |
Scaf1 |
A |
C |
7: 44,662,230 (GRCm39) |
|
probably null |
Het |
Scaper |
T |
C |
9: 55,766,360 (GRCm39) |
|
probably null |
Het |
Sh3glb1 |
C |
T |
3: 144,418,410 (GRCm39) |
C51Y |
probably damaging |
Het |
Slc10a5 |
T |
C |
3: 10,400,391 (GRCm39) |
T90A |
probably benign |
Het |
Slc17a3 |
T |
A |
13: 24,040,449 (GRCm39) |
S336T |
probably damaging |
Het |
Slc41a2 |
C |
A |
10: 83,133,023 (GRCm39) |
C341F |
probably benign |
Het |
Spata31 |
A |
G |
13: 65,068,127 (GRCm39) |
*67W |
probably null |
Het |
Stap2 |
C |
T |
17: 56,307,475 (GRCm39) |
|
probably null |
Het |
Stt3a |
A |
T |
9: 36,663,696 (GRCm39) |
M182K |
probably benign |
Het |
Tcfl5 |
G |
A |
2: 180,284,050 (GRCm39) |
|
silent |
Het |
Tmx3 |
T |
C |
18: 90,555,225 (GRCm39) |
V314A |
probably benign |
Het |
Upf1 |
A |
G |
8: 70,791,167 (GRCm39) |
L525P |
probably damaging |
Het |
Wdr6 |
T |
C |
9: 108,452,981 (GRCm39) |
I301V |
possibly damaging |
Het |
Ylpm1 |
T |
A |
12: 85,107,025 (GRCm39) |
|
probably null |
Het |
Zfp273 |
T |
C |
13: 67,973,450 (GRCm39) |
Y160H |
probably damaging |
Het |
|
Other mutations in Acy1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
|
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'- TGAATGGAGCCATGCCATATG -3'
(R):5'- ATCACCTTCCTGGAGGAGAGAG -3'
Sequencing Primer
(F):5'- GCTACATAGTGAGACCCTGTCTAG -3'
(R):5'- AGCTGGGTCTGAGCTGTC -3'
|
Posted On |
2016-11-21 |