Incidental Mutation 'R9112:Acy1'
| ID |
692311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acy1
|
| Ensembl Gene |
ENSMUSG00000023262 |
| Gene Name |
aminoacylase 1 |
| Synonyms |
Acy-1, 1110014J22Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9112 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106310180-106315518 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106311952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 262
(Y262H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024031
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024031]
[ENSMUST00000059802]
[ENSMUST00000098994]
[ENSMUST00000150576]
[ENSMUST00000190803]
[ENSMUST00000190900]
[ENSMUST00000190972]
[ENSMUST00000213448]
[ENSMUST00000214067]
[ENSMUST00000214275]
[ENSMUST00000215395]
[ENSMUST00000215506]
[ENSMUST00000216400]
[ENSMUST00000217081]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024031
AA Change: Y262H
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000024031
Gene: ENSMUSG00000023262
AA Change: Y262H
| 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 |
probably benign
Transcript: ENSMUST00000190803
|
| 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: 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: ENSMUST00000213448
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214067
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214275
AA Change: Y227H
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215395
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215506
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216400
AA Change: Y190H
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217081
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (56/56) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
A |
G |
11: 59,100,806 (GRCm39) |
S181G |
possibly damaging |
Het |
| 5730596B20Rik |
A |
G |
6: 52,156,413 (GRCm39) |
R160G |
unknown |
Het |
| Adamts13 |
T |
C |
2: 26,880,379 (GRCm39) |
S681P |
possibly damaging |
Het |
| Adgra3 |
C |
A |
5: 50,118,395 (GRCm39) |
C1051F |
probably damaging |
Het |
| Afp |
T |
C |
5: 90,652,289 (GRCm39) |
|
probably null |
Het |
| Agrn |
A |
T |
4: 156,261,514 (GRCm39) |
V568E |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,987,149 (GRCm39) |
E2811G |
probably damaging |
Het |
| Ap1m1 |
C |
A |
8: 72,994,066 (GRCm39) |
Y7* |
probably null |
Het |
| Apobec1 |
T |
A |
6: 122,555,837 (GRCm39) |
T207S |
probably benign |
Het |
| Arhgap32 |
G |
A |
9: 32,157,309 (GRCm39) |
R102Q |
probably damaging |
Het |
| Bcat2 |
T |
C |
7: 45,237,446 (GRCm39) |
|
probably null |
Het |
| Cd209f |
T |
A |
8: 4,155,802 (GRCm39) |
|
probably benign |
Het |
| Cox7c |
G |
A |
13: 86,194,837 (GRCm39) |
|
probably benign |
Het |
| Cyp2d11 |
A |
G |
15: 82,276,203 (GRCm39) |
V156A |
possibly damaging |
Het |
| Dhrs3 |
A |
T |
4: 144,653,769 (GRCm39) |
T297S |
probably benign |
Het |
| Dip2c |
T |
C |
13: 9,660,766 (GRCm39) |
C876R |
probably damaging |
Het |
| Eprs1 |
A |
T |
1: 185,129,273 (GRCm39) |
I587F |
probably damaging |
Het |
| Fam13c |
A |
G |
10: 70,286,978 (GRCm39) |
T81A |
probably benign |
Het |
| Flt4 |
A |
G |
11: 49,524,064 (GRCm39) |
Y548C |
probably damaging |
Het |
| Garin2 |
T |
C |
12: 78,757,202 (GRCm39) |
|
probably null |
Het |
| Gimap4 |
T |
A |
6: 48,667,629 (GRCm39) |
V128E |
probably benign |
Het |
| Gm32742 |
A |
G |
9: 51,060,735 (GRCm39) |
L856P |
possibly damaging |
Het |
| Gm5916 |
A |
G |
9: 36,032,258 (GRCm39) |
Y59H |
probably damaging |
Het |
| Gnai3 |
A |
T |
3: 108,030,990 (GRCm39) |
H57Q |
|
Het |
| Golga3 |
G |
T |
5: 110,333,757 (GRCm39) |
R131L |
probably benign |
Het |
| Gpc6 |
A |
T |
14: 117,424,088 (GRCm39) |
I59F |
probably benign |
Het |
| H2bc6 |
T |
C |
13: 23,769,753 (GRCm39) |
M63V |
possibly damaging |
Het |
| Herc6 |
T |
C |
6: 57,596,604 (GRCm39) |
S515P |
probably damaging |
Het |
| Ift74 |
T |
C |
4: 94,575,103 (GRCm39) |
I518T |
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,675,256 (GRCm39) |
S474P |
possibly damaging |
Het |
| Klhl3 |
A |
C |
13: 58,248,212 (GRCm39) |
I28S |
unknown |
Het |
| Klrh1 |
T |
A |
6: 129,743,697 (GRCm39) |
I196F |
probably benign |
Het |
| Lipi |
A |
G |
16: 75,359,159 (GRCm39) |
F259S |
probably damaging |
Het |
| Lrrc8a |
T |
A |
2: 30,145,782 (GRCm39) |
S199T |
probably damaging |
Het |
| Map2 |
T |
A |
1: 66,472,723 (GRCm39) |
C1709* |
probably null |
Het |
| Mrgprf |
A |
G |
7: 144,861,503 (GRCm39) |
S22G |
probably benign |
Het |
| Myo1e |
G |
T |
9: 70,274,983 (GRCm39) |
R712L |
probably benign |
Het |
| Nras |
A |
T |
3: 102,967,658 (GRCm39) |
N85Y |
probably benign |
Het |
| Or4a71 |
C |
T |
2: 89,358,337 (GRCm39) |
C139Y |
probably damaging |
Het |
| Or5b3 |
A |
T |
19: 13,388,475 (GRCm39) |
I181F |
probably benign |
Het |
| Or6ae1 |
A |
G |
7: 139,742,660 (GRCm39) |
S68P |
|
Het |
| Or9q2 |
T |
C |
19: 13,772,780 (GRCm39) |
H65R |
probably damaging |
Het |
| Pcp2 |
T |
A |
8: 3,674,638 (GRCm39) |
|
probably benign |
Het |
| Pigv |
T |
C |
4: 133,392,079 (GRCm39) |
R364G |
probably benign |
Het |
| Plekhh3 |
T |
A |
11: 101,061,625 (GRCm39) |
S30C |
probably damaging |
Het |
| Poglut3 |
A |
G |
9: 53,295,530 (GRCm39) |
Y44C |
probably damaging |
Het |
| Pramel11 |
A |
C |
4: 143,623,334 (GRCm39) |
V280G |
possibly damaging |
Het |
| Pramel51 |
C |
T |
12: 88,144,055 (GRCm39) |
A261T |
possibly damaging |
Het |
| Rhof |
T |
C |
5: 123,258,571 (GRCm39) |
|
probably benign |
Het |
| Rufy3 |
A |
T |
5: 88,780,336 (GRCm39) |
E361D |
|
Het |
| Serpina1b |
T |
C |
12: 103,698,699 (GRCm39) |
D50G |
probably benign |
Het |
| Sgsm2 |
G |
A |
11: 74,756,222 (GRCm39) |
Q376* |
probably null |
Het |
| Slc18b1 |
A |
T |
10: 23,692,262 (GRCm39) |
I246F |
probably damaging |
Het |
| Slc38a9 |
A |
T |
13: 112,850,777 (GRCm39) |
N387I |
probably damaging |
Het |
| Synrg |
C |
G |
11: 83,862,409 (GRCm39) |
P35A |
probably damaging |
Het |
| Tdrp |
T |
C |
8: 14,005,796 (GRCm39) |
K42E |
probably damaging |
Het |
| Trappc10 |
A |
C |
10: 78,029,201 (GRCm39) |
M1112R |
probably damaging |
Het |
| Ube2e1 |
A |
G |
14: 18,285,203 (GRCm38) |
V90A |
probably damaging |
Het |
| Vwde |
C |
A |
6: 13,205,051 (GRCm39) |
V277F |
possibly damaging |
Het |
| Zfyve16 |
A |
G |
13: 92,659,563 (GRCm39) |
M116T |
possibly 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 |
|
|
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 |
|
R9491:Acy1
|
UTSW |
9 |
106,312,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCCCAAGTCAATACCTGAG -3'
(R):5'- TGGAACGCTGTGCAAGATAG -3'
Sequencing Primer
(F):5'- TGGCACCATCTCTGCAGCTG -3'
(R):5'- AATACTGATGCAGGCTGC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation