Incidental Mutation 'R4034:Aspa'
ID |
313634 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aspa
|
Ensembl Gene |
ENSMUSG00000020774 |
Gene Name |
aspartoacylase |
Synonyms |
Acy-2, aspartoacylase, Acy2, small lethargic, nur7 |
MMRRC Submission |
040962-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.215)
|
Stock # |
R4034 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
73195813-73217677 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 73199597 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 227
(K227E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139318
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021119]
[ENSMUST00000155630]
[ENSMUST00000184572]
|
AlphaFold |
Q8R3P0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021119
AA Change: K227E
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000021119 Gene: ENSMUSG00000020774 AA Change: K227E
Domain | Start | End | E-Value | Type |
Pfam:AstE_AspA
|
9 |
300 |
8e-72 |
PFAM |
|
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 |
possibly damaging
Transcript: ENSMUST00000184572
AA Change: K227E
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000139318 Gene: ENSMUSG00000020774 AA Change: K227E
Domain | Start | End | E-Value | Type |
Pfam:AstE_AspA
|
9 |
300 |
4.5e-71 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
A |
T |
11: 48,910,108 (GRCm39) |
L775* |
probably null |
Het |
Aarsd1 |
C |
T |
11: 101,302,158 (GRCm39) |
V301I |
probably damaging |
Het |
Arap1 |
A |
T |
7: 101,049,484 (GRCm39) |
Y982F |
possibly damaging |
Het |
Ccdc168 |
A |
G |
1: 44,098,026 (GRCm39) |
V1024A |
probably benign |
Het |
Ccdc88c |
G |
A |
12: 100,896,783 (GRCm39) |
A1389V |
possibly damaging |
Het |
Cngb1 |
C |
A |
8: 95,991,078 (GRCm39) |
C708F |
possibly damaging |
Het |
Csn1s2a |
A |
G |
5: 87,929,746 (GRCm39) |
Q115R |
probably benign |
Het |
Cwf19l2 |
A |
T |
9: 3,456,803 (GRCm39) |
H712L |
probably benign |
Het |
Eml6 |
C |
A |
11: 29,753,137 (GRCm39) |
V925L |
probably benign |
Het |
Fbll1 |
G |
A |
11: 35,688,505 (GRCm39) |
H253Y |
possibly damaging |
Het |
Hmgcr |
C |
G |
13: 96,787,571 (GRCm39) |
L852F |
probably damaging |
Het |
Ltbp2 |
A |
T |
12: 84,851,248 (GRCm39) |
C836S |
probably damaging |
Het |
Mroh9 |
A |
G |
1: 162,908,122 (GRCm39) |
|
probably null |
Het |
Muc5ac |
G |
A |
7: 141,353,581 (GRCm39) |
|
probably null |
Het |
Or2y1 |
A |
G |
11: 49,386,287 (GRCm39) |
D309G |
possibly damaging |
Het |
Pgm5 |
T |
A |
19: 24,839,021 (GRCm39) |
I45F |
probably damaging |
Het |
Ppl |
T |
C |
16: 4,924,721 (GRCm39) |
T115A |
probably benign |
Het |
Sgpp1 |
A |
G |
12: 75,762,964 (GRCm39) |
Y406H |
probably damaging |
Het |
Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
St18 |
G |
A |
1: 6,925,697 (GRCm39) |
|
probably null |
Het |
Tcerg1 |
T |
A |
18: 42,652,598 (GRCm39) |
N75K |
unknown |
Het |
Tmco4 |
T |
C |
4: 138,748,172 (GRCm39) |
Y251H |
probably damaging |
Het |
Usp42 |
C |
T |
5: 143,701,194 (GRCm39) |
S943N |
probably benign |
Het |
Utp20 |
C |
T |
10: 88,598,668 (GRCm39) |
V103I |
probably benign |
Het |
Vmn1r14 |
G |
A |
6: 57,211,310 (GRCm39) |
R252H |
possibly damaging |
Het |
Wapl |
T |
C |
14: 34,459,871 (GRCm39) |
V1013A |
possibly damaging |
Het |
Zfp37 |
G |
A |
4: 62,109,933 (GRCm39) |
T414I |
probably damaging |
Het |
Zfp423 |
A |
G |
8: 88,507,972 (GRCm39) |
C666R |
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 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTGTCCTGCAGTCAATTTATG -3'
(R):5'- AGGAGCCCCATACTGGTTTAC -3'
Sequencing Primer
(F):5'- TGCCACAGCTCCAGTACTGTG -3'
(R):5'- GGTTTACAGCACTCTTCACTTTCTG -3'
|
Posted On |
2015-04-30 |