Incidental Mutation 'R4475:Aga'
| ID |
330519 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aga
|
| Ensembl Gene |
ENSMUSG00000031521 |
| Gene Name |
aspartylglucosaminidase |
| Synonyms |
|
| MMRRC Submission |
041732-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4475 (G1)
|
| Quality Score |
194 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
53964762-53976456 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53964871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 11
(L11P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033920]
[ENSMUST00000209811]
[ENSMUST00000211424]
|
| AlphaFold |
Q64191 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033920
AA Change: L11P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000033920
Gene: ENSMUSG00000031521
AA Change: L11P
| 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 damaging
Transcript: ENSMUST00000209811
AA Change: L11P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211424
AA Change: L11P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.7372 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
97% (38/39) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
T |
A |
16: 14,407,227 (GRCm39) |
I52N |
possibly damaging |
Het |
| Adgra3 |
A |
T |
5: 50,159,240 (GRCm39) |
Y337N |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,188,426 (GRCm39) |
F1947L |
probably benign |
Het |
| Atp6v1c1 |
T |
C |
15: 38,677,817 (GRCm39) |
I114T |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,094,544 (GRCm39) |
T904A |
probably damaging |
Het |
| Dbh |
T |
A |
2: 27,070,984 (GRCm39) |
|
probably null |
Het |
| Dgkh |
T |
C |
14: 78,827,318 (GRCm39) |
D858G |
possibly damaging |
Het |
| Dlx5 |
T |
C |
6: 6,881,663 (GRCm39) |
Y75C |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,875,959 (GRCm39) |
F529L |
probably benign |
Het |
| Epg5 |
A |
C |
18: 77,991,723 (GRCm39) |
D140A |
probably benign |
Het |
| Esr2 |
C |
T |
12: 76,180,716 (GRCm39) |
D402N |
probably benign |
Het |
| Hells |
A |
G |
19: 38,933,973 (GRCm39) |
T265A |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hspa8 |
T |
A |
9: 40,715,442 (GRCm39) |
|
probably benign |
Het |
| Ighm |
A |
G |
12: 113,384,513 (GRCm39) |
|
probably benign |
Het |
| Nedd4 |
C |
T |
9: 72,578,521 (GRCm39) |
R78* |
probably null |
Het |
| Nrxn1 |
G |
T |
17: 91,009,410 (GRCm39) |
N388K |
probably damaging |
Het |
| Oprk1 |
T |
A |
1: 5,672,824 (GRCm39) |
Y320* |
probably null |
Het |
| Or10j2 |
T |
C |
1: 173,098,480 (GRCm39) |
V246A |
probably damaging |
Het |
| Or9s27 |
T |
C |
1: 92,516,301 (GRCm39) |
V83A |
probably benign |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,235,170 (GRCm39) |
L809P |
probably damaging |
Het |
| Plek |
C |
T |
11: 16,935,528 (GRCm39) |
|
probably null |
Het |
| Prg4 |
T |
C |
1: 150,330,610 (GRCm39) |
|
probably benign |
Het |
| Rrs1 |
T |
C |
1: 9,615,810 (GRCm39) |
L21P |
probably damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Sim2 |
T |
C |
16: 93,926,650 (GRCm39) |
S625P |
probably benign |
Het |
| Smpd5 |
T |
C |
15: 76,178,926 (GRCm39) |
L98P |
probably damaging |
Het |
| Srpra |
A |
G |
9: 35,124,155 (GRCm39) |
K34E |
possibly damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,609,080 (GRCm39) |
V719A |
possibly damaging |
Het |
| Tmem52b |
C |
T |
6: 129,491,219 (GRCm39) |
H37Y |
probably benign |
Het |
| Tnip1 |
A |
G |
11: 54,830,422 (GRCm39) |
|
probably null |
Het |
| Trim3 |
A |
G |
7: 105,267,009 (GRCm39) |
Y457H |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,407,975 (GRCm39) |
I2600T |
possibly damaging |
Het |
| Vmn2r129 |
T |
G |
4: 156,691,085 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp365 |
C |
A |
10: 67,724,750 (GRCm39) |
K379N |
possibly 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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGAAGGCCTCGTTGTCTCG -3'
(R):5'- TCCTAAAATGCAGCAGGGGC -3'
Sequencing Primer
(F):5'- TCGCGAGAGTTGAGGAAGTTG -3'
(R):5'- TCTGGTGTAAAGTCAGAGATGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation