Incidental Mutation 'IGL02581:Aga'
ID299363
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aga
Ensembl Gene ENSMUSG00000031521
Gene Nameaspartylglucosaminidase
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02581
Quality Score
Status
Chromosome8
Chromosomal Location53511727-53523421 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 53521044 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033920] [ENSMUST00000209811] [ENSMUST00000211424]
Predicted Effect probably benign
Transcript: ENSMUST00000033920
SMART Domains Protein: ENSMUSP00000033920
Gene: ENSMUSG00000031521

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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034H15Rik A G 1: 191,903,540 probably benign Het
Abca13 C T 11: 9,399,132 probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
BC100530 T C 16: 36,359,498 T86A probably damaging Het
C1rl T C 6: 124,493,154 S2P possibly damaging Het
Dgkd T C 1: 87,918,002 probably benign Het
Dnajb11 A G 16: 22,871,018 N311D probably benign Het
Flg2 A C 3: 93,219,892 Q2037P unknown Het
Glyctk T C 9: 106,157,781 T29A probably benign Het
Gtf3c1 C A 7: 125,646,515 R1672L possibly damaging Het
Hps3 A T 3: 20,003,221 probably benign Het
Kcnh3 G T 15: 99,238,171 C683F possibly damaging Het
Lmtk2 T G 5: 144,148,348 F213V probably damaging Het
Malrd1 C A 2: 16,142,312 C1988* probably null Het
Map3k11 T A 19: 5,700,806 M684K probably benign Het
Mgea5 T A 19: 45,752,191 M902L possibly damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Plekhh1 T C 12: 79,079,108 probably null Het
Rev3l C A 10: 39,821,281 N591K probably benign Het
Rrp9 T A 9: 106,483,628 N269K probably damaging Het
Sec14l4 T C 11: 4,039,941 I80T possibly damaging Het
Srpr G A 9: 35,215,032 probably null Het
Tmc8 G A 11: 117,783,888 R143H probably benign Het
Trank1 T C 9: 111,383,125 I1777T probably benign Het
Trim17 C A 11: 58,971,076 Y311* probably null Het
Vps13a C T 19: 16,655,322 A2557T probably benign Het
Vps53 T G 11: 76,102,057 N106T probably damaging Het
Other mutations in Aga
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Aga APN 8 53518921 missense probably benign
IGL02617:Aga APN 8 53520313 missense possibly damaging 0.66
IGL03008:Aga APN 8 53511826 missense probably benign
R2099:Aga UTSW 8 53521131 nonsense probably null
R3747:Aga UTSW 8 53517821 missense probably benign
R4018:Aga UTSW 8 53523191 missense probably benign 0.00
R4247:Aga UTSW 8 53511830 missense possibly damaging 0.72
R4399:Aga UTSW 8 53511826 missense probably benign
R4421:Aga UTSW 8 53511826 missense probably benign
R4475:Aga UTSW 8 53511836 missense probably damaging 0.98
R5235:Aga UTSW 8 53514326 missense probably damaging 1.00
R5640:Aga UTSW 8 53511884 missense probably damaging 1.00
R7748:Aga UTSW 8 53511805 start codon destroyed possibly damaging 0.79
X0027:Aga UTSW 8 53521156 missense probably benign 0.01
Posted On2015-04-16