Incidental Mutation 'R8553:Aga'
ID 659972
Institutional Source Beutler Lab
Gene Symbol Aga
Ensembl Gene ENSMUSG00000031521
Gene Name aspartylglucosaminidase
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8553 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 53964762-53976456 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 53973367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 255 (R255H)
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: R265H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033920
Gene: ENSMUSG00000031521
AA Change: R265H

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: R255H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A G 4: 123,754,327 (GRCm39) I80M probably benign Het
Acsbg3 T A 17: 57,188,021 (GRCm39) D176E probably benign Het
Anapc1 G A 2: 128,461,833 (GRCm39) P1757L possibly damaging Het
Arfgef3 T A 10: 18,479,278 (GRCm39) I1446L probably damaging Het
Auts2 T C 5: 131,468,981 (GRCm39) T779A probably benign Het
Cacna1s T C 1: 136,019,540 (GRCm39) S778P possibly damaging Het
Cep164 A T 9: 45,718,508 (GRCm39) probably benign Het
Cmya5 T C 13: 93,230,304 (GRCm39) T1595A probably benign Het
Csmd3 G T 15: 47,484,724 (GRCm39) T3214K possibly damaging Het
Dpy30 A G 17: 74,622,913 (GRCm39) L23P probably damaging Het
Edrf1 A G 7: 133,252,047 (GRCm39) E391G possibly damaging Het
Egflam A T 15: 7,237,229 (GRCm39) V985E probably damaging Het
Elmo3 T C 8: 106,033,810 (GRCm39) V201A probably benign Het
Entrep3 A C 3: 89,094,153 (GRCm39) D322A possibly damaging Het
Epb41l5 T A 1: 119,477,671 (GRCm39) D700V possibly damaging Het
Esr1 T C 10: 4,947,847 (GRCm39) S467P probably damaging Het
Eya4 G A 10: 22,982,157 (GRCm39) H601Y probably damaging Het
Fancm A C 12: 65,173,469 (GRCm39) N1927T possibly damaging Het
Gcfc2 A G 6: 81,912,944 (GRCm39) T248A probably benign Het
Gm29106 T A 1: 118,128,149 (GRCm39) C614S probably damaging Het
Greb1 T C 12: 16,773,328 (GRCm39) T249A probably benign Het
Hectd4 T C 5: 121,491,661 (GRCm39) S3700P possibly damaging Het
Hr T C 14: 70,804,965 (GRCm39) L950P probably damaging Het
Hsd3b3 T A 3: 98,651,205 (GRCm39) T82S possibly damaging Het
Ifit2 C A 19: 34,550,538 (GRCm39) A26E probably benign Het
Igsf9b A G 9: 27,244,739 (GRCm39) D902G probably damaging Het
Itga4 G A 2: 79,131,405 (GRCm39) R591Q probably damaging Het
Kcnb1 A T 2: 166,946,531 (GRCm39) S772R possibly damaging Het
Klhl32 T A 4: 24,629,343 (GRCm39) I213L probably benign Het
Lcn3 A T 2: 25,656,347 (GRCm39) probably null Het
Lpin2 T A 17: 71,538,232 (GRCm39) S293T probably damaging Het
Magi2 T C 5: 20,856,198 (GRCm39) F840S probably benign Het
Myt1 G A 2: 181,439,344 (GRCm39) E289K possibly damaging Het
Ndst4 A G 3: 125,503,756 (GRCm39) S8G probably damaging Het
Nlrp4f T C 13: 65,343,252 (GRCm39) D109G possibly damaging Het
Or6d14 G T 6: 116,534,289 (GRCm39) R301L probably damaging Het
Pcdhb12 C T 18: 37,570,687 (GRCm39) A611V probably damaging Het
Pcif1 A T 2: 164,728,417 (GRCm39) I225F probably damaging Het
Peli3 A G 19: 4,984,960 (GRCm39) F150L probably damaging Het
Qng1 G A 13: 58,532,694 (GRCm39) T92M probably damaging Het
Rfx7 A G 9: 72,519,086 (GRCm39) T263A probably damaging Het
Rpn1 A G 6: 88,072,539 (GRCm39) Y294C probably damaging Het
Rusc2 T A 4: 43,416,508 (GRCm39) S605T probably benign Het
Sec23ip A C 7: 128,355,777 (GRCm39) Q300P probably damaging Het
Sh2d3c A G 2: 32,635,925 (GRCm39) T98A probably damaging Het
Siah3 T A 14: 75,763,067 (GRCm39) I106K probably benign Het
Spns2 C T 11: 72,348,053 (GRCm39) D305N probably damaging Het
Sult1a1 G T 7: 126,273,333 (GRCm39) Q177K probably benign Het
Tas2r109 A G 6: 132,957,171 (GRCm39) I253T probably benign Het
Tcof1 T C 18: 60,964,643 (GRCm39) D661G possibly damaging Het
Tdrd1 A G 19: 56,831,584 (GRCm39) N325S probably damaging Het
Tfcp2l1 C A 1: 118,560,082 (GRCm39) A58E probably damaging Het
Wdcp T C 12: 4,902,024 (GRCm39) 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
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
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'- GACTTAAAACAGTAGCCAGCG -3'
(R):5'- AAGGATCACAAGCCAACTGG -3'

Sequencing Primer
(F):5'- GGAACAGCCCCCAGTTATG -3'
(R):5'- TGGCAACAGTAAAGCAAACC -3'
Posted On 2021-01-18