Incidental Mutation 'R4247:Aga'
ID 320469
Institutional Source Beutler Lab
Gene Symbol Aga
Ensembl Gene ENSMUSG00000031521
Gene Name aspartylglucosaminidase
Synonyms
MMRRC Submission 041063-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4247 (G1)
Quality Score 197
Status Validated
Chromosome 8
Chromosomal Location 53964762-53976456 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53964865 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 9 (L9Q)
Ref Sequence ENSEMBL: ENSMUSP00000147487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033920] [ENSMUST00000209811] [ENSMUST00000211424]
AlphaFold Q64191
Predicted Effect probably benign
Transcript: ENSMUST00000033920
AA Change: L9Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000033920
Gene: ENSMUSG00000031521
AA Change: L9Q

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Asparaginase_2 32 333 2.5e-86 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000209811
AA Change: L9Q

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000211424
AA Change: L9Q

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (41/42)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,195,626 (GRCm39) I305V probably benign Het
Akna C T 4: 63,313,409 (GRCm39) G238D probably benign Het
Arhgap23 G A 11: 97,354,525 (GRCm39) E813K probably damaging Het
Atp13a2 T C 4: 140,719,539 (GRCm39) probably null Het
Atp8a1 C T 5: 67,824,917 (GRCm39) G820S probably damaging Het
Ccdc97 T G 7: 25,415,459 (GRCm39) H68P possibly damaging Het
Dclre1b A C 3: 103,711,400 (GRCm39) probably null Het
Erap1 T C 13: 74,823,414 (GRCm39) I816T probably damaging Het
Fubp1 G A 3: 151,937,573 (GRCm39) A103T possibly damaging Het
Gnal C G 18: 67,221,654 (GRCm39) P19R unknown Het
Gtf3c5 T C 2: 28,461,196 (GRCm39) D306G probably damaging Het
Hecw2 C T 1: 53,871,804 (GRCm39) V1381M probably damaging Het
Hsdl2 A T 4: 59,594,417 (GRCm39) N16I probably damaging Het
Kif14 G T 1: 136,401,126 (GRCm39) M492I possibly damaging Het
Kif27 A G 13: 58,435,731 (GRCm39) V1354A probably damaging Het
Kif9 G T 9: 110,325,027 (GRCm39) probably null Het
Lmtk3 G A 7: 45,443,486 (GRCm39) C723Y possibly damaging Het
Lrrc24 A G 15: 76,602,176 (GRCm39) I193T possibly damaging Het
Or2bd2 A G 7: 6,441,901 (GRCm39) probably benign Het
Or52b1 T C 7: 104,979,355 (GRCm39) I15V probably benign Het
Pkd1l1 C T 11: 8,815,543 (GRCm39) R1456K possibly damaging Het
Pramel52-ps A G 5: 94,531,446 (GRCm39) D110G possibly damaging Het
Ranbp2 A G 10: 58,314,686 (GRCm39) D1802G possibly damaging Het
Resf1 T A 6: 149,227,041 (GRCm39) M29K possibly damaging Het
Satl1 A G X: 111,316,033 (GRCm39) S141P probably benign Het
Scn11a C T 9: 119,636,952 (GRCm39) V250M probably damaging Het
Slitrk1 A G 14: 109,149,994 (GRCm39) V239A possibly damaging Het
Slitrk6 T A 14: 110,988,171 (GRCm39) D512V probably damaging Het
Snx8 A G 5: 140,341,800 (GRCm39) L121P probably damaging Het
Sumf1 A C 6: 108,131,974 (GRCm39) V156G probably damaging Het
Tamalin G T 15: 101,122,418 (GRCm39) R79L possibly damaging Het
Trp73 A G 4: 154,149,089 (GRCm39) probably null Het
Tsen2 A G 6: 115,524,785 (GRCm39) probably benign Het
Upp1 T C 11: 9,084,815 (GRCm39) I178T probably benign Het
Vmn2r73 A T 7: 85,521,883 (GRCm39) L152Q probably damaging Het
Vmn2r97 T C 17: 19,167,542 (GRCm39) S599P possibly damaging Het
Wrnip1 T C 13: 32,990,866 (GRCm39) L375P probably damaging Het
Zfp945 C T 17: 23,069,583 (GRCm39) G793D probably damaging Het
Zfyve9 C A 4: 108,576,389 (GRCm39) A231S probably benign Het
Other mutations in Aga
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- ATAGAAGGCCTCGTTGTCTCG -3'
(R):5'- GTCTGGTGTAAAGTCAGAGATGC -3'

Sequencing Primer
(F):5'- TCGCGAGAGTTGAGGAAGTTG -3'
(R):5'- CTGCAACCTTAGGGACTGAGTG -3'
Posted On 2015-06-12