Incidental Mutation 'IGL02617:Aga'
| ID |
300710 |
| 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 # |
IGL02617
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
53964762-53976456 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 53973348 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 249
(D249N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033920]
[ENSMUST00000209811]
[ENSMUST00000211424]
|
| AlphaFold |
Q64191 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033920
AA Change: D259N
PolyPhen 2
Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000033920
Gene: ENSMUSG00000031521
AA Change: D259N
| 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 |
possibly damaging
Transcript: ENSMUST00000211424
AA Change: D249N
PolyPhen 2
Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,394,807 (GRCm39) |
Q172* |
probably null |
Het |
| Adgrg5 |
A |
G |
8: 95,660,610 (GRCm39) |
D79G |
probably benign |
Het |
| Aifm3 |
A |
G |
16: 17,318,397 (GRCm39) |
Q170R |
probably null |
Het |
| Cdh2 |
T |
A |
18: 16,760,661 (GRCm39) |
N512Y |
probably damaging |
Het |
| Chd8 |
A |
G |
14: 52,472,648 (GRCm39) |
I385T |
probably benign |
Het |
| Clic6 |
A |
G |
16: 92,296,206 (GRCm39) |
K289E |
probably benign |
Het |
| Ctcf |
G |
T |
8: 106,403,842 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,488,628 (GRCm39) |
Y3447H |
probably benign |
Het |
| Fhip1a |
A |
T |
3: 85,580,344 (GRCm39) |
D620E |
probably benign |
Het |
| Fmo2 |
T |
A |
1: 162,704,490 (GRCm39) |
Q472L |
probably damaging |
Het |
| Gcnt3 |
C |
A |
9: 69,941,444 (GRCm39) |
G375W |
probably damaging |
Het |
| Golga3 |
T |
A |
5: 110,336,612 (GRCm39) |
V417E |
probably benign |
Het |
| Hivep3 |
T |
C |
4: 119,952,641 (GRCm39) |
L319P |
probably benign |
Het |
| Kctd13 |
A |
G |
7: 126,541,504 (GRCm39) |
K248R |
possibly damaging |
Het |
| Magel2 |
G |
A |
7: 62,029,946 (GRCm39) |
R950H |
unknown |
Het |
| Niban1 |
T |
A |
1: 151,447,296 (GRCm39) |
S6T |
probably benign |
Het |
| Nmt2 |
A |
G |
2: 3,315,750 (GRCm39) |
I247V |
probably benign |
Het |
| Or14a256 |
T |
G |
7: 86,264,872 (GRCm39) |
H327P |
probably benign |
Het |
| Or1e30 |
T |
A |
11: 73,678,560 (GRCm39) |
N265K |
probably benign |
Het |
| Pcdhb12 |
T |
C |
18: 37,570,099 (GRCm39) |
V415A |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Prr27 |
T |
A |
5: 87,990,518 (GRCm39) |
N43K |
probably benign |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Sec24a |
A |
T |
11: 51,603,014 (GRCm39) |
|
probably null |
Het |
| Srek1ip1 |
C |
A |
13: 104,973,984 (GRCm39) |
H130Q |
possibly damaging |
Het |
| Trio |
C |
T |
15: 27,841,935 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,608,614 (GRCm39) |
|
probably benign |
Het |
| Vmn2r65 |
C |
A |
7: 84,589,549 (GRCm39) |
S789I |
probably damaging |
Het |
| Zbtb17 |
A |
G |
4: 141,192,399 (GRCm39) |
Q448R |
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 |
|
|
IGL02581:Aga
|
APN |
8 |
53,974,079 (GRCm39) |
splice site |
probably benign |
|
|
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