Incidental Mutation 'IGL02644:Aspa'
| ID |
301883 |
| 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 # |
IGL02644
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
73195813-73217677 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73212992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 117
(T117S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021119]
[ENSMUST00000134079]
[ENSMUST00000141898]
[ENSMUST00000155630]
[ENSMUST00000184572]
|
| AlphaFold |
Q8R3P0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021119
AA Change: T117S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021119
Gene: ENSMUSG00000020774
AA Change: T117S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AstE_AspA
|
9 |
300 |
8e-72 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132774
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134079
AA Change: T117S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121135
Gene: ENSMUSG00000020774
AA Change: T117S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AstE_AspA
|
9 |
163 |
4.7e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141898
|
| SMART Domains |
Protein: ENSMUSP00000118109
Gene: ENSMUSG00000020774
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AstE_AspA
|
9 |
93 |
2.3e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000155630
AA Change: T117S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139131
Gene: ENSMUSG00000020774
AA Change: T117S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AstE_AspA
|
9 |
196 |
3e-50 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184572
AA Change: T117S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139318
Gene: ENSMUSG00000020774
AA Change: T117S
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
A |
T |
3: 151,198,007 (GRCm39) |
Y89F |
probably benign |
Het |
| Agl |
A |
G |
3: 116,580,246 (GRCm39) |
Y406H |
probably damaging |
Het |
| Ankhd1 |
G |
A |
18: 36,711,828 (GRCm39) |
|
probably null |
Het |
| Ankmy1 |
T |
C |
1: 92,812,776 (GRCm39) |
D511G |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,266,589 (GRCm39) |
Y546H |
probably damaging |
Het |
| Asap1 |
G |
T |
15: 63,982,911 (GRCm39) |
P806T |
probably damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Bspry |
A |
T |
4: 62,414,565 (GRCm39) |
H386L |
probably damaging |
Het |
| C1qc |
T |
C |
4: 136,617,629 (GRCm39) |
T156A |
possibly damaging |
Het |
| Cfhr4 |
A |
G |
1: 139,708,905 (GRCm39) |
M1T |
probably null |
Het |
| Copz2 |
A |
T |
11: 96,744,257 (GRCm39) |
|
probably benign |
Het |
| Cybb |
A |
G |
X: 9,333,395 (GRCm39) |
V23A |
probably benign |
Het |
| D630003M21Rik |
T |
A |
2: 158,058,730 (GRCm39) |
D390V |
possibly damaging |
Het |
| Dennd10 |
T |
A |
19: 60,810,741 (GRCm39) |
S43T |
possibly damaging |
Het |
| Dpy19l2 |
G |
T |
9: 24,569,888 (GRCm39) |
P355Q |
probably damaging |
Het |
| Gcn1 |
A |
T |
5: 115,713,250 (GRCm39) |
Q71L |
probably benign |
Het |
| Gpd1l |
T |
C |
9: 114,732,725 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,265,100 (GRCm39) |
D2761G |
probably damaging |
Het |
| Ifi202b |
T |
A |
1: 173,799,280 (GRCm39) |
H256L |
probably benign |
Het |
| Igkv8-24 |
T |
C |
6: 70,193,872 (GRCm39) |
Y112C |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,658,910 (GRCm39) |
R2022Q |
probably benign |
Het |
| Mroh4 |
T |
A |
15: 74,482,224 (GRCm39) |
R675S |
possibly damaging |
Het |
| Mtf1 |
T |
G |
4: 124,714,028 (GRCm39) |
C146G |
probably damaging |
Het |
| Nubpl |
A |
G |
12: 52,317,841 (GRCm39) |
D178G |
probably damaging |
Het |
| Or7e165 |
A |
C |
9: 19,695,010 (GRCm39) |
I194L |
probably benign |
Het |
| Pam16 |
A |
G |
16: 4,434,697 (GRCm39) |
S91P |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,278,232 (GRCm39) |
E404G |
probably benign |
Het |
| Pde7a |
C |
A |
3: 19,311,031 (GRCm39) |
|
probably benign |
Het |
| Perm1 |
G |
T |
4: 156,303,043 (GRCm39) |
G529V |
probably damaging |
Het |
| Pik3c2a |
T |
C |
7: 115,972,049 (GRCm39) |
T794A |
probably benign |
Het |
| Ppfibp1 |
A |
G |
6: 146,923,938 (GRCm39) |
Y722C |
probably damaging |
Het |
| Ppm1m |
A |
T |
9: 106,074,082 (GRCm39) |
I241N |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,311,834 (GRCm39) |
Y282C |
probably damaging |
Het |
| Rpl27 |
T |
A |
11: 101,336,317 (GRCm39) |
|
probably benign |
Het |
| Scaf1 |
A |
G |
7: 44,655,357 (GRCm39) |
|
probably benign |
Het |
| Sec14l2 |
A |
T |
11: 4,053,380 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
T |
A |
17: 71,667,016 (GRCm39) |
|
probably benign |
Het |
| Sptb |
A |
T |
12: 76,652,391 (GRCm39) |
D1615E |
probably damaging |
Het |
| Stt3a |
A |
C |
9: 36,663,649 (GRCm39) |
C198G |
possibly damaging |
Het |
| Tas2r144 |
T |
C |
6: 42,192,787 (GRCm39) |
S176P |
possibly damaging |
Het |
| Tlr13 |
A |
G |
X: 105,200,503 (GRCm39) |
D80G |
probably benign |
Het |
| Tmco4 |
A |
G |
4: 138,737,920 (GRCm39) |
|
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,771,109 (GRCm39) |
C132S |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,698,733 (GRCm39) |
D406G |
probably damaging |
Het |
| Vmn2r125 |
G |
A |
4: 156,703,294 (GRCm39) |
R224Q |
probably benign |
Het |
| Zfp524 |
C |
A |
7: 5,020,479 (GRCm39) |
D2E |
probably damaging |
Het |
|
| Other mutations in Aspa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00470:Aspa
|
APN |
11 |
73,204,447 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation