Incidental Mutation 'IGL00503:Aga'
ID 332491
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) question?
Stock # IGL00503
Quality Score
Status
Chromosome 8
Chromosomal Location 53964762-53976456 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 53971956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 210 (V210I)
Ref Sequence ENSEMBL: ENSMUSP00000148133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033920] [ENSMUST00000209811] [ENSMUST00000211424]
AlphaFold Q64191
Predicted Effect probably benign
Transcript: ENSMUST00000033920
AA Change: V210I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033920
Gene: ENSMUSG00000031521
AA Change: V210I

DomainStartEndE-ValueType
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
AA Change: V210I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T A 18: 69,083,173 (GRCm39) R14* probably null Het
Abcb5 A G 12: 118,871,336 (GRCm39) S688P probably benign Het
Adgb T A 10: 10,281,843 (GRCm39) Q597L possibly damaging Het
Akap17b A G X: 35,875,963 (GRCm39) S515P probably damaging Het
Brinp3 A T 1: 146,776,905 (GRCm39) T451S probably benign Het
Cabcoco1 G T 10: 68,377,635 (GRCm39) T18N possibly damaging Het
Ccar2 C T 14: 70,379,980 (GRCm39) W402* probably null Het
Ccdc15 G A 9: 37,231,769 (GRCm39) A185V probably damaging Het
Ccdc50 G A 16: 27,228,102 (GRCm39) E90K probably damaging Het
Cckbr G A 7: 105,083,449 (GRCm39) M217I probably benign Het
Clec16a A G 16: 10,512,513 (GRCm39) T398A possibly damaging Het
Col4a1 A G 8: 11,290,076 (GRCm39) probably benign Het
Cyp4v3 T A 8: 45,760,058 (GRCm39) E498V probably damaging Het
Dgke T C 11: 88,932,327 (GRCm39) I488V probably benign Het
Dip2c A G 13: 9,617,934 (GRCm39) D443G probably damaging Het
Edem3 T G 1: 151,694,264 (GRCm39) S852A probably benign Het
Fbxo8 T A 8: 57,041,058 (GRCm39) M158K probably benign Het
Galnt15 C T 14: 31,774,313 (GRCm39) T359M possibly damaging Het
Herc6 A G 6: 57,584,130 (GRCm39) N330D probably benign Het
Kdf1 T C 4: 133,255,468 (GRCm39) S62P probably damaging Het
Larp4 T A 15: 99,885,302 (GRCm39) I51N probably damaging Het
Mfsd6l T A 11: 68,447,299 (GRCm39) I50N probably damaging Het
Mroh2b A G 15: 4,928,679 (GRCm39) Y4C probably benign Het
Muc17 G T 5: 137,165,971 (GRCm39) Y343* probably null Het
Myom2 A C 8: 15,164,289 (GRCm39) probably null Het
Npat A T 9: 53,483,949 (GRCm39) probably benign Het
Pamr1 A T 2: 102,472,617 (GRCm39) I639F possibly damaging Het
Pcsk2 A G 2: 143,635,159 (GRCm39) S345G probably damaging Het
Pcyt1a A G 16: 32,285,919 (GRCm39) T197A probably damaging Het
Pkd1 A G 17: 24,784,401 (GRCm39) M316V probably benign Het
Plekhs1 T C 19: 56,453,031 (GRCm39) probably null Het
Sema3e G T 5: 14,290,586 (GRCm39) R557M probably damaging Het
Sgsm1 T C 5: 113,424,008 (GRCm39) N154S probably benign Het
Smg1 A T 7: 117,784,706 (GRCm39) probably benign Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Spats1 A T 17: 45,765,011 (GRCm39) probably null Het
Tnfaip6 T G 2: 51,945,859 (GRCm39) V235G probably damaging Het
Trim34a A T 7: 103,910,538 (GRCm39) T447S probably damaging Het
Tut1 G A 19: 8,936,460 (GRCm39) A95T probably damaging Het
Urgcp C T 11: 5,666,448 (GRCm39) R630Q possibly damaging Het
Vmn1r125 G T 7: 21,006,106 (GRCm39) M1I probably null Het
Vmn2r99 A G 17: 19,599,116 (GRCm39) T267A probably benign Het
Wdr5 A G 2: 27,410,879 (GRCm39) K162E probably benign Het
Zscan26 T G 13: 21,629,271 (GRCm39) K285Q probably damaging Het
Other mutations in Aga
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2015-08-05