Incidental Mutation 'IGL02581:Aga'
| ID |
299363 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aga
|
| Ensembl Gene |
ENSMUSG00000031521 |
| Gene Name |
aspartylglucosaminidase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02581
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
53964762-53976456 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 53974079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033920]
[ENSMUST00000209811]
[ENSMUST00000211424]
|
| AlphaFold |
Q64191 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033920
|
| SMART Domains |
Protein: ENSMUSP00000033920
Gene: ENSMUSG00000031521
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Asparaginase_2
|
32 |
333 |
2.5e-86 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209811
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211424
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes an amidase enzyme that participates in the breakdown of glycoproteins in the cell. The encoded protein undergoes proteolytic processing to generate a mature enzyme. Mice lacking the encoded protein exhibit accumulation of aspartylglucosamine along with lysosomal vacuolization, axonal swelling in the gracile nucleus and impaired neuromotor coordination. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate this gene die prematurely and share most of the clinical, biochemical and histopathological characteristics of human aspartylglycosaminuria. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034H15Rik |
A |
G |
1: 191,635,652 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
C |
T |
11: 9,349,132 (GRCm39) |
|
probably benign |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| C1rl |
T |
C |
6: 124,470,113 (GRCm39) |
S2P |
possibly damaging |
Het |
| Cstdc5 |
T |
C |
16: 36,179,860 (GRCm39) |
T86A |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,845,724 (GRCm39) |
|
probably benign |
Het |
| Dnajb11 |
A |
G |
16: 22,689,768 (GRCm39) |
N311D |
probably benign |
Het |
| Flg2 |
A |
C |
3: 93,127,199 (GRCm39) |
Q2037P |
unknown |
Het |
| Glyctk |
T |
C |
9: 106,034,980 (GRCm39) |
T29A |
probably benign |
Het |
| Gtf3c1 |
C |
A |
7: 125,245,687 (GRCm39) |
R1672L |
possibly damaging |
Het |
| Hps3 |
A |
T |
3: 20,057,385 (GRCm39) |
|
probably benign |
Het |
| Kcnh3 |
G |
T |
15: 99,136,052 (GRCm39) |
C683F |
possibly damaging |
Het |
| Lmtk2 |
T |
G |
5: 144,085,166 (GRCm39) |
F213V |
probably damaging |
Het |
| Malrd1 |
C |
A |
2: 16,147,123 (GRCm39) |
C1988* |
probably null |
Het |
| Map3k11 |
T |
A |
19: 5,750,834 (GRCm39) |
M684K |
probably benign |
Het |
| Oga |
T |
A |
19: 45,740,630 (GRCm39) |
M902L |
possibly damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Plekhh1 |
T |
C |
12: 79,125,882 (GRCm39) |
|
probably null |
Het |
| Rev3l |
C |
A |
10: 39,697,277 (GRCm39) |
N591K |
probably benign |
Het |
| Rrp9 |
T |
A |
9: 106,360,827 (GRCm39) |
N269K |
probably damaging |
Het |
| Sec14l4 |
T |
C |
11: 3,989,941 (GRCm39) |
I80T |
possibly damaging |
Het |
| Srpra |
G |
A |
9: 35,126,328 (GRCm39) |
|
probably null |
Het |
| Tmc8 |
G |
A |
11: 117,674,714 (GRCm39) |
R143H |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,212,193 (GRCm39) |
I1777T |
probably benign |
Het |
| Trim17 |
C |
A |
11: 58,861,902 (GRCm39) |
Y311* |
probably null |
Het |
| Vps13a |
C |
T |
19: 16,632,686 (GRCm39) |
A2557T |
probably benign |
Het |
| Vps53 |
T |
G |
11: 75,992,883 (GRCm39) |
N106T |
probably damaging |
Het |
|
| Other mutations in Aga |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00503:Aga
|
APN |
8 |
53,971,956 (GRCm39) |
missense |
probably benign |
|
|
IGL02617:Aga
|
APN |
8 |
53,973,348 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03008:Aga
|
APN |
8 |
53,964,861 (GRCm39) |
missense |
probably benign |
|
|
R2099:Aga
|
UTSW |
8 |
53,974,166 (GRCm39) |
nonsense |
probably null |
|
|
R3747:Aga
|
UTSW |
8 |
53,970,856 (GRCm39) |
missense |
probably benign |
|
|
R4018:Aga
|
UTSW |
8 |
53,976,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4247:Aga
|
UTSW |
8 |
53,964,865 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4399:Aga
|
UTSW |
8 |
53,964,861 (GRCm39) |
missense |
probably benign |
|
|
R4421:Aga
|
UTSW |
8 |
53,964,861 (GRCm39) |
missense |
probably benign |
|
|
R4475:Aga
|
UTSW |
8 |
53,964,871 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5235:Aga
|
UTSW |
8 |
53,967,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5640:Aga
|
UTSW |
8 |
53,964,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7748:Aga
|
UTSW |
8 |
53,964,840 (GRCm39) |
start codon destroyed |
possibly damaging |
0.79 |
|
R8553:Aga
|
UTSW |
8 |
53,973,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8955:Aga
|
UTSW |
8 |
53,974,164 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9217:Aga
|
UTSW |
8 |
53,966,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Aga
|
UTSW |
8 |
53,974,191 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation