Incidental Mutation 'R4931:Acy1'
| ID |
380577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acy1
|
| Ensembl Gene |
ENSMUSG00000023262 |
| Gene Name |
aminoacylase 1 |
| Synonyms |
Acy-1, 1110014J22Rik |
| MMRRC Submission |
042532-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4931 (G1)
|
| Quality Score |
146 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106310180-106315518 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106310390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 308
(H308Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024031]
[ENSMUST00000059802]
[ENSMUST00000098994]
[ENSMUST00000150576]
[ENSMUST00000190803]
[ENSMUST00000216400]
[ENSMUST00000214275]
[ENSMUST00000215395]
[ENSMUST00000214067]
[ENSMUST00000215506]
[ENSMUST00000213448]
[ENSMUST00000190900]
[ENSMUST00000217081]
[ENSMUST00000190972]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024031
AA Change: H373Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024031
Gene: ENSMUSG00000023262
AA Change: H373Y
| 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 damaging
Transcript: ENSMUST00000216400
AA Change: H301Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214275
AA Change: H338Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215395
AA Change: H308Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214067
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215506
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213448
|
| 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: ENSMUST00000217081
|
| 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: ENSMUST00000217531
|
| Meta Mutation Damage Score |
0.8643 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.7%
|
| Validation Efficiency |
95% (78/82) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
A |
G |
3: 145,643,875 (GRCm39) |
D21G |
probably benign |
Het |
| 4930562C15Rik |
T |
C |
16: 4,678,910 (GRCm39) |
L68P |
possibly damaging |
Het |
| Ache |
A |
G |
5: 137,290,176 (GRCm39) |
I414V |
probably benign |
Het |
| Aldh1b1 |
A |
C |
4: 45,803,661 (GRCm39) |
I400L |
probably benign |
Het |
| Ankrd40 |
T |
A |
11: 94,225,647 (GRCm39) |
L226Q |
probably benign |
Het |
| B3gnt9 |
T |
C |
8: 105,980,876 (GRCm39) |
T171A |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,977,134 (GRCm39) |
Y289C |
probably damaging |
Het |
| Cd209f |
A |
T |
8: 4,153,688 (GRCm39) |
I187N |
probably damaging |
Het |
| Cers6 |
T |
G |
2: 68,935,456 (GRCm39) |
S319A |
probably damaging |
Het |
| Chrna4 |
A |
G |
2: 180,670,665 (GRCm39) |
S364P |
probably benign |
Het |
| Chrnb3 |
T |
C |
8: 27,884,258 (GRCm39) |
S317P |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,908,774 (GRCm39) |
V1129A |
probably benign |
Het |
| Dhx9 |
G |
A |
1: 153,348,419 (GRCm39) |
P302L |
probably benign |
Het |
| Dnaaf9 |
A |
G |
2: 130,583,793 (GRCm39) |
F496L |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Duox2 |
T |
C |
2: 122,127,236 (GRCm39) |
N147S |
probably benign |
Het |
| Dytn |
T |
G |
1: 63,672,837 (GRCm39) |
E522A |
probably benign |
Het |
| E130114P18Rik |
T |
C |
4: 97,608,524 (GRCm39) |
D27G |
unknown |
Het |
| Egf |
A |
G |
3: 129,505,117 (GRCm39) |
F118S |
probably damaging |
Het |
| Eif2d |
T |
A |
1: 131,082,128 (GRCm39) |
F73L |
probably damaging |
Het |
| Eps8l1 |
A |
G |
7: 4,474,240 (GRCm39) |
E237G |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,214,165 (GRCm39) |
E664G |
probably benign |
Het |
| Fbrsl1 |
A |
T |
5: 110,526,895 (GRCm39) |
S373T |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,784,699 (GRCm39) |
F894Y |
probably benign |
Het |
| Gpatch8 |
T |
C |
11: 102,372,050 (GRCm39) |
E496G |
unknown |
Het |
| Gucy1a2 |
A |
G |
9: 3,759,588 (GRCm39) |
K465E |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,031,297 (GRCm39) |
T459A |
possibly damaging |
Het |
| Itgad |
A |
T |
7: 127,803,797 (GRCm39) |
I64F |
probably damaging |
Het |
| Itgb2l |
T |
A |
16: 96,238,649 (GRCm39) |
N50I |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,962,531 (GRCm39) |
I478T |
probably damaging |
Het |
| Krt31 |
G |
A |
11: 99,940,983 (GRCm39) |
T109I |
probably benign |
Het |
| Ltbr |
G |
T |
6: 125,284,437 (GRCm39) |
|
probably null |
Het |
| Magel2 |
A |
G |
7: 62,030,372 (GRCm39) |
D1092G |
unknown |
Het |
| Minar1 |
T |
C |
9: 89,483,705 (GRCm39) |
H564R |
probably benign |
Het |
| Mindy3 |
A |
T |
2: 12,401,024 (GRCm39) |
N231K |
probably damaging |
Het |
| Mpnd |
T |
G |
17: 56,319,362 (GRCm39) |
|
probably benign |
Het |
| Mtus2 |
C |
T |
5: 148,014,226 (GRCm39) |
L340F |
probably benign |
Het |
| Nanog |
G |
A |
6: 122,684,865 (GRCm39) |
A17T |
possibly damaging |
Het |
| Ndufa9 |
G |
T |
6: 126,813,283 (GRCm39) |
A181E |
probably damaging |
Het |
| Or52z14 |
T |
G |
7: 103,253,581 (GRCm39) |
L240R |
probably benign |
Het |
| Or7e175 |
A |
T |
9: 20,048,858 (GRCm39) |
I149F |
probably benign |
Het |
| Pprc1 |
ATCCTCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTC |
19: 46,059,755 (GRCm39) |
|
probably benign |
Het |
| Pramel18 |
T |
C |
4: 101,766,367 (GRCm39) |
V17A |
possibly damaging |
Het |
| Prkacb |
T |
C |
3: 146,453,732 (GRCm39) |
I211V |
possibly damaging |
Het |
| Ptpn14 |
C |
G |
1: 189,583,474 (GRCm39) |
L774V |
probably benign |
Het |
| Rad1 |
T |
C |
15: 10,492,848 (GRCm39) |
|
probably benign |
Het |
| Rims1 |
G |
T |
1: 22,573,028 (GRCm39) |
P391Q |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Sf3b3 |
C |
T |
8: 111,542,961 (GRCm39) |
R832Q |
probably benign |
Het |
| Slc12a2 |
A |
G |
18: 58,068,035 (GRCm39) |
D975G |
possibly damaging |
Het |
| Slitrk6 |
A |
G |
14: 110,987,811 (GRCm39) |
L632P |
probably damaging |
Het |
| Spire2 |
A |
G |
8: 124,095,523 (GRCm39) |
D542G |
possibly damaging |
Het |
| Sppl3 |
A |
T |
5: 115,220,373 (GRCm39) |
Q95L |
probably damaging |
Het |
| Stat5b |
C |
A |
11: 100,675,080 (GRCm39) |
E710* |
probably null |
Het |
| Tcl1 |
G |
T |
12: 105,188,872 (GRCm39) |
H14N |
probably damaging |
Het |
| Ten1 |
T |
C |
11: 116,096,555 (GRCm39) |
F70L |
probably benign |
Het |
| Tnfrsf13b |
A |
T |
11: 61,031,763 (GRCm39) |
T35S |
possibly damaging |
Het |
| Tpcn2 |
G |
A |
7: 144,821,046 (GRCm39) |
P336L |
probably benign |
Het |
| Trf |
C |
A |
9: 103,105,247 (GRCm39) |
D22Y |
probably damaging |
Het |
| Ttyh1 |
A |
G |
7: 4,136,943 (GRCm39) |
|
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,032,031 (GRCm39) |
I602F |
probably benign |
Het |
| Zfp296 |
G |
T |
7: 19,313,637 (GRCm39) |
C164F |
possibly damaging |
Het |
| Zfp352 |
A |
G |
4: 90,112,541 (GRCm39) |
Y227C |
probably damaging |
Het |
| Zfp599 |
A |
T |
9: 22,169,419 (GRCm39) |
W18R |
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 |
|
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'- GAACATCCCATCCAATGCTGG -3'
(R):5'- ACTGACAGCCGCTTTATCCG -3'
Sequencing Primer
(F):5'- CTTTATTACTGGGCAGGGGAAAC -3'
(R):5'- CGCTTTATCCGGGCGGTG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation