Incidental Mutation 'R5235:Aga'
ID 398306
Institutional Source Beutler Lab
Gene Symbol Aga
Ensembl Gene ENSMUSG00000031521
Gene Name aspartylglucosaminidase
Synonyms
MMRRC Submission 042807-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5235 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 53964762-53976456 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53967361 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 124 (H124R)
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: H124R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033920
Gene: ENSMUSG00000031521
AA Change: H124R

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 damaging
Transcript: ENSMUST00000211424
AA Change: H124R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C A 7: 41,274,256 (GRCm39) H126Q possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Ank1 G A 8: 23,572,212 (GRCm39) G49R probably damaging Het
Aox1 G T 1: 58,096,714 (GRCm39) V270L possibly damaging Het
Arfrp1 T C 2: 181,001,298 (GRCm39) H145R probably benign Het
Atg14 G A 14: 47,805,656 (GRCm39) R70C probably damaging Het
Atg3 A G 16: 44,979,520 (GRCm39) T20A probably benign Het
C3ar1 A G 6: 122,827,881 (GRCm39) L112P probably damaging Het
Clip2 G A 5: 134,551,645 (GRCm39) T159M possibly damaging Het
Csmd3 T C 15: 47,492,674 (GRCm39) T3156A probably benign Het
Dag1 T C 9: 108,084,897 (GRCm39) Y748C probably damaging Het
Dek A T 13: 47,239,955 (GRCm39) probably null Het
Fras1 G A 5: 96,748,609 (GRCm39) V695M probably benign Het
Gpx7 A G 4: 108,258,189 (GRCm39) S135P probably damaging Het
Ido2 A T 8: 25,037,202 (GRCm39) I168N probably damaging Het
Lca5 A T 9: 83,305,107 (GRCm39) L233* probably null Het
Liph A C 16: 21,802,785 (GRCm39) L95V probably damaging Het
Mast1 A T 8: 85,640,068 (GRCm39) L1113Q probably damaging Het
Nlrx1 C T 9: 44,175,047 (GRCm39) G243D probably damaging Het
Or4ac1-ps1 G A 2: 88,370,769 (GRCm39) noncoding transcript Het
Or5d40 T A 2: 88,015,912 (GRCm39) D230E probably benign Het
Otoa T C 7: 120,755,693 (GRCm39) L1033P probably damaging Het
Ovol3 A T 7: 29,932,899 (GRCm39) Y179N possibly damaging Het
Papss2 A G 19: 32,616,619 (GRCm39) N215S probably benign Het
Pcdhga8 T C 18: 37,860,488 (GRCm39) Y515H probably damaging Het
Phlda1 CCAGCCCCAACCTCAGCCCCAACCTCAGCCCCAACC CCAGCCCCAACCTCAGCCCCAACC 10: 111,343,252 (GRCm39) probably benign Het
Scn2a A T 2: 65,582,355 (GRCm39) N1568Y probably damaging Het
Sec16b A T 1: 157,362,334 (GRCm39) I251F probably benign Het
Slc29a4 T A 5: 142,704,523 (GRCm39) I355N probably damaging Het
Snx29 G T 16: 11,231,110 (GRCm39) C39F possibly damaging Het
Spata16 A G 3: 26,721,781 (GRCm39) M101V probably benign Het
Stat2 T C 10: 128,126,901 (GRCm39) probably null Het
Tdpoz8 A G 3: 92,981,393 (GRCm39) D137G probably damaging Het
Tnrc6c G T 11: 117,651,555 (GRCm39) V1693F probably benign Het
Tpm3 A G 3: 89,993,802 (GRCm39) E97G probably damaging Het
Ugt8a A C 3: 125,661,129 (GRCm39) H454Q probably damaging Het
Vmn2r27 T A 6: 124,169,013 (GRCm39) I706L probably damaging Het
Wdfy3 T C 5: 101,994,972 (GRCm39) I3256V probably null 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
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
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'- TTGCTGCTCCGAGAAATGCG -3'
(R):5'- TTGCTCTCTACATCACAGTAAGC -3'

Sequencing Primer
(F):5'- CGTAAATCTTCCACGTCCT -3'
(R):5'- CACAGTAAGCTAGTTATTTCCTTCC -3'
Posted On 2016-07-06