Incidental Mutation 'R5482:Acy1'
| ID |
434393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acy1
|
| Ensembl Gene |
ENSMUSG00000023262 |
| Gene Name |
aminoacylase 1 |
| Synonyms |
Acy-1, 1110014J22Rik |
| MMRRC Submission |
043043-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5482 (G1)
|
| Quality Score |
145 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106310180-106315518 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 106311838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024031]
[ENSMUST00000059802]
[ENSMUST00000098994]
[ENSMUST00000150576]
[ENSMUST00000190803]
[ENSMUST00000214067]
[ENSMUST00000190900]
[ENSMUST00000216400]
[ENSMUST00000215395]
[ENSMUST00000215506]
[ENSMUST00000213448]
[ENSMUST00000190972]
[ENSMUST00000214275]
[ENSMUST00000217081]
|
| 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: ENSMUST00000059802
|
| SMART Domains |
Protein: ENSMUSP00000080203
Gene: ENSMUSG00000048758
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L29e
|
3 |
42 |
9.8e-28 |
PFAM |
|
low complexity region
|
126 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187324
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189097
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190803
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190851
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214067
|
| 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: ENSMUST00000216400
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215395
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215506
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213448
|
| 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 |
probably benign
Transcript: ENSMUST00000214275
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217531
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217081
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.4%
- 10x: 94.5%
- 20x: 87.6%
|
| Validation Efficiency |
99% (68/69) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230109A22Rik |
T |
C |
15: 25,139,036 (GRCm39) |
|
noncoding transcript |
Het |
| Abca15 |
T |
C |
7: 119,968,370 (GRCm39) |
L801P |
probably damaging |
Het |
| Acap3 |
A |
G |
4: 155,984,613 (GRCm39) |
D212G |
probably benign |
Het |
| Acsl6 |
G |
A |
11: 54,217,964 (GRCm39) |
D166N |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,942,360 (GRCm39) |
N1368S |
probably damaging |
Het |
| Akap5 |
T |
C |
12: 76,375,600 (GRCm39) |
I344T |
probably benign |
Het |
| Aplp1 |
A |
G |
7: 30,139,600 (GRCm39) |
F399S |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,107,727 (GRCm39) |
S1302P |
possibly damaging |
Het |
| Bik |
T |
G |
15: 83,428,335 (GRCm39) |
V121G |
probably damaging |
Het |
| Birc6 |
A |
T |
17: 74,948,777 (GRCm39) |
M3069L |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,969,685 (GRCm39) |
T4237A |
probably damaging |
Het |
| Btn2a2 |
T |
C |
13: 23,670,557 (GRCm39) |
N59D |
probably benign |
Het |
| Cabyr |
A |
G |
18: 12,884,496 (GRCm39) |
S328G |
possibly damaging |
Het |
| Cfap57 |
C |
T |
4: 118,426,838 (GRCm39) |
G1067R |
probably benign |
Het |
| Cryl1 |
A |
T |
14: 57,550,469 (GRCm39) |
F132I |
probably damaging |
Het |
| Dipk1a |
C |
G |
5: 108,057,529 (GRCm39) |
C343S |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 31,019,521 (GRCm39) |
E3865K |
probably damaging |
Het |
| Dock3 |
G |
A |
9: 106,855,937 (GRCm39) |
R741* |
probably null |
Het |
| Fsip2 |
C |
T |
2: 82,815,654 (GRCm39) |
L3796F |
possibly damaging |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Gm5535 |
C |
A |
2: 144,016,492 (GRCm39) |
|
noncoding transcript |
Het |
| Gmcl1 |
A |
T |
6: 86,695,055 (GRCm39) |
M202K |
probably damaging |
Het |
| Hecw2 |
T |
A |
1: 53,965,360 (GRCm39) |
M489L |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,980,418 (GRCm39) |
I254T |
probably benign |
Het |
| Lrrn3 |
A |
C |
12: 41,502,387 (GRCm39) |
C643W |
probably damaging |
Het |
| Lrrn3 |
G |
A |
12: 41,502,386 (GRCm39) |
L644F |
probably benign |
Het |
| Nr2f6 |
A |
T |
8: 71,827,182 (GRCm39) |
I373N |
probably damaging |
Het |
| Nt5dc3 |
A |
G |
10: 86,647,395 (GRCm39) |
Y130C |
probably damaging |
Het |
| Or5b12 |
T |
C |
19: 12,897,269 (GRCm39) |
T135A |
probably damaging |
Het |
| Or6c3 |
T |
C |
10: 129,308,947 (GRCm39) |
Y129H |
probably benign |
Het |
| Otogl |
T |
A |
10: 107,657,802 (GRCm39) |
I1043F |
probably damaging |
Het |
| Padi3 |
G |
A |
4: 140,523,154 (GRCm39) |
T302I |
probably damaging |
Het |
| Pcdhgb5 |
A |
G |
18: 37,864,585 (GRCm39) |
N127D |
probably damaging |
Het |
| Pign |
A |
G |
1: 105,474,435 (GRCm39) |
F876L |
probably benign |
Het |
| Pip5k1c |
A |
G |
10: 81,128,897 (GRCm39) |
E2G |
probably damaging |
Het |
| Ppp1r18 |
G |
A |
17: 36,184,771 (GRCm39) |
E141K |
probably damaging |
Het |
| Ralbp1 |
A |
C |
17: 66,168,563 (GRCm39) |
Y247* |
probably null |
Het |
| Ripply2 |
A |
G |
9: 86,897,620 (GRCm39) |
E8G |
possibly damaging |
Het |
| Rufy3 |
TAAGCA |
TA |
5: 88,785,191 (GRCm39) |
|
probably null |
Het |
| Skint2 |
T |
G |
4: 112,483,076 (GRCm39) |
C160W |
probably damaging |
Het |
| Sun2 |
C |
T |
15: 79,621,712 (GRCm39) |
R172Q |
probably benign |
Het |
| Syna |
A |
G |
5: 134,588,028 (GRCm39) |
L307P |
possibly damaging |
Het |
| Tlcd3b |
A |
G |
7: 126,426,660 (GRCm39) |
T78A |
possibly damaging |
Het |
| Trappc12 |
T |
C |
12: 28,741,324 (GRCm39) |
K795R |
probably damaging |
Het |
| Trmt9b |
A |
T |
8: 36,979,203 (GRCm39) |
M269L |
probably benign |
Het |
| Ttll11 |
A |
G |
2: 35,642,418 (GRCm39) |
S638P |
probably damaging |
Het |
| Usp2 |
G |
A |
9: 44,000,480 (GRCm39) |
|
probably null |
Het |
| Vmn2r26 |
A |
T |
6: 124,038,285 (GRCm39) |
E620V |
possibly damaging |
Het |
| Wdr36 |
A |
T |
18: 32,974,957 (GRCm39) |
H103L |
probably benign |
Het |
| Wnt5b |
T |
C |
6: 119,423,392 (GRCm39) |
T78A |
probably benign |
Het |
| Zc2hc1b |
C |
T |
10: 13,029,270 (GRCm39) |
R146Q |
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 |
|
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'- TGCAGAGGTCCTACACAAGC -3'
(R):5'- CCAATACTGATGCAGGCTGC -3'
Sequencing Primer
(F):5'- GGTCCTACACAAGCCCAGACTTAG -3'
(R):5'- GAACCCTCACCTGAAGGAAGG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation