Incidental Mutation 'IGL00470:Aspa'
| ID |
4548 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aspa
|
| Ensembl Gene |
ENSMUSG00000020774 |
| Gene Name |
aspartoacylase |
| Synonyms |
Acy-2, aspartoacylase, Acy2, small lethargic, nur7 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
IGL00470
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
73195813-73217677 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 73204447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021119]
[ENSMUST00000155630]
[ENSMUST00000184572]
|
| AlphaFold |
Q8R3P0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021119
|
| SMART Domains |
Protein: ENSMUSP00000021119
Gene: ENSMUSG00000020774
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AstE_AspA
|
9 |
300 |
8e-72 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132774
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155630
|
| SMART Domains |
Protein: ENSMUSP00000139131
Gene: ENSMUSG00000020774
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AstE_AspA
|
9 |
196 |
3e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184572
|
| SMART Domains |
Protein: ENSMUSP00000139318
Gene: ENSMUSG00000020774
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AstE_AspA
|
9 |
300 |
4.5e-71 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes an enzyme that deacteylates N-acetyl-L-aspartic acid (NAA) in the brain to yield acetate and L-aspartate. In humans, alterations in neuronal NAA concentration are associated with many neurodegenerative diseases (decrease associated with epilepsy, multiple sclerosis, myotrophic lateral sclerosis, and Alzheimer's disease; increase associated with Canavan disease). In mouse, mutations in this gene, which cause accumulation of NAA, result in demyelination and spongy degeneration in the CNS and serve as a pathophysiological model for Canavan disease. [provided by RefSeq, Dec 2012]
PHENOTYPE: Homozygous null mutants have spongy degeneration of the brain, enlarged heads, and decreased life spans and display metal retardation and impaired coordination. Additionally, mice homozygous for an ENU-induced mutation also exhibit hearing impairment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4732463B04Rik |
G |
T |
12: 84,090,578 (GRCm39) |
|
probably benign |
Het |
| Abcd1 |
T |
C |
X: 72,761,154 (GRCm39) |
L173P |
probably damaging |
Het |
| Adam18 |
T |
A |
8: 25,118,149 (GRCm39) |
D41V |
probably damaging |
Het |
| Armh4 |
A |
T |
14: 50,010,460 (GRCm39) |
S416T |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,451,654 (GRCm39) |
|
probably benign |
Het |
| Cracd |
G |
A |
5: 77,013,903 (GRCm39) |
|
probably benign |
Het |
| Cubn |
T |
A |
2: 13,283,229 (GRCm39) |
I3570L |
probably benign |
Het |
| Cyp2j13 |
G |
A |
4: 95,950,275 (GRCm39) |
P242L |
probably damaging |
Het |
| Cysrt1 |
T |
C |
2: 25,129,513 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,407,414 (GRCm39) |
L2100H |
probably damaging |
Het |
| Ddb1 |
G |
A |
19: 10,589,028 (GRCm39) |
A229T |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,228,043 (GRCm39) |
I1554F |
probably damaging |
Het |
| Dvl3 |
C |
T |
16: 20,349,689 (GRCm39) |
P554L |
probably damaging |
Het |
| Fcgbp |
C |
A |
7: 27,774,511 (GRCm39) |
C28* |
probably null |
Het |
| Gm773 |
T |
C |
X: 55,247,373 (GRCm39) |
D53G |
probably benign |
Het |
| Hhat |
A |
G |
1: 192,399,325 (GRCm39) |
Y272H |
probably damaging |
Het |
| Inpp5k |
T |
C |
11: 75,536,351 (GRCm39) |
S310P |
probably benign |
Het |
| Kat2a |
G |
A |
11: 100,596,210 (GRCm39) |
R782W |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 74,944,570 (GRCm39) |
D893G |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,119,738 (GRCm39) |
T709A |
probably benign |
Het |
| Mcm8 |
G |
A |
2: 132,669,457 (GRCm39) |
V281I |
probably benign |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Nup133 |
T |
G |
8: 124,665,822 (GRCm39) |
D201A |
probably damaging |
Het |
| Oxct2a |
A |
G |
4: 123,217,183 (GRCm39) |
L66P |
possibly damaging |
Het |
| Pcbp2 |
C |
T |
15: 102,399,148 (GRCm39) |
A224V |
probably damaging |
Het |
| Phf8-ps |
T |
A |
17: 33,284,837 (GRCm39) |
H655L |
probably benign |
Het |
| Pla2g4e |
G |
A |
2: 120,015,719 (GRCm39) |
S275F |
probably benign |
Het |
| Pxk |
T |
C |
14: 8,130,754 (GRCm38) |
F118L |
probably damaging |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,255,631 (GRCm39) |
M706T |
possibly damaging |
Het |
| Tars3 |
T |
C |
7: 65,338,656 (GRCm39) |
M689T |
probably benign |
Het |
| Trrap |
T |
C |
5: 144,754,848 (GRCm39) |
V2008A |
probably damaging |
Het |
| Txndc2 |
A |
T |
17: 65,945,569 (GRCm39) |
S203T |
probably benign |
Het |
| Txnrd1 |
T |
G |
10: 82,711,496 (GRCm39) |
D42E |
probably damaging |
Het |
| Zswim8 |
G |
A |
14: 20,773,249 (GRCm39) |
D1746N |
probably damaging |
Het |
|
| Other mutations in Aspa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02644:Aspa
|
APN |
11 |
73,212,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
boneloss
|
UTSW |
11 |
73,196,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
metrecal
|
UTSW |
11 |
73,210,716 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1348:Aspa
|
UTSW |
11 |
73,215,309 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4034:Aspa
|
UTSW |
11 |
73,199,597 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5441:Aspa
|
UTSW |
11 |
73,196,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Aspa
|
UTSW |
11 |
73,199,578 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7366:Aspa
|
UTSW |
11 |
73,210,716 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7531:Aspa
|
UTSW |
11 |
73,204,351 (GRCm39) |
nonsense |
probably null |
|
|
R7869:Aspa
|
UTSW |
11 |
73,204,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8022:Aspa
|
UTSW |
11 |
73,213,032 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8066:Aspa
|
UTSW |
11 |
73,204,372 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9278:Aspa
|
UTSW |
11 |
73,215,280 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9667:Aspa
|
UTSW |
11 |
73,199,625 (GRCm39) |
nonsense |
probably null |
|
|
R9763:Aspa
|
UTSW |
11 |
73,213,094 (GRCm39) |
nonsense |
probably null |
|
|
X0018:Aspa
|
UTSW |
11 |
73,215,133 (GRCm39) |
missense |
probably benign |
0.13 |
|
Z1186:Aspa
|
UTSW |
11 |
73,213,013 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Aspa
|
UTSW |
11 |
73,213,013 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Aspa
|
UTSW |
11 |
73,213,013 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Aspa
|
UTSW |
11 |
73,213,013 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Aspa
|
UTSW |
11 |
73,213,013 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Aspa
|
UTSW |
11 |
73,213,013 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Aspa
|
UTSW |
11 |
73,213,013 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation