Incidental Mutation 'R4399:Aga'
ID 325639
Institutional Source Beutler Lab
Gene Symbol Aga
Ensembl Gene ENSMUSG00000031521
Gene Name aspartylglucosaminidase
Synonyms
MMRRC Submission 041686-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4399 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 53964762-53976456 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53964861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 8 (S8P)
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: S8P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033920
Gene: ENSMUSG00000031521
AA Change: S8P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Asparaginase_2 32 333 2.5e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209811
AA Change: S8P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211424
AA Change: S8P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 96% (44/46)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,827,211 (GRCm39) T1466A possibly damaging Het
Abcc6 T C 7: 45,652,031 (GRCm39) N612S probably benign Het
Cep152 G A 2: 125,429,900 (GRCm39) A674V possibly damaging Het
Chd6 T C 2: 160,807,238 (GRCm39) H1992R probably benign Het
Cnga1 T C 5: 72,761,724 (GRCm39) K597E probably damaging Het
Col6a5 T A 9: 105,766,164 (GRCm39) M1919L possibly damaging Het
Cramp1 C T 17: 25,198,559 (GRCm39) V788I probably damaging Het
Dnah7a T C 1: 53,557,886 (GRCm39) Y2176C probably damaging Het
Foxred2 A C 15: 77,837,558 (GRCm39) V226G possibly damaging Het
Foxred2 T C 15: 77,839,880 (GRCm39) I137V probably benign Het
G6pd2 T A 5: 61,967,516 (GRCm39) N430K probably benign Het
Gtf2h3 T C 5: 124,740,126 (GRCm39) probably benign Het
Ibsp T A 5: 104,457,148 (GRCm39) S86T probably damaging Het
Igkv6-25 T A 6: 70,192,694 (GRCm39) S34T possibly damaging Het
Mrc2 T A 11: 105,227,484 (GRCm39) Y572* probably null Het
Mup18 C T 4: 61,590,866 (GRCm39) G97D probably damaging Het
Or1j18 A T 2: 36,625,242 (GRCm39) N303I probably benign Het
Or1p1 A G 11: 74,179,682 (GRCm39) D70G probably damaging Het
Or2ag2 G T 7: 106,485,660 (GRCm39) D121E probably damaging Het
Or4k40 T G 2: 111,251,144 (GRCm39) I51L probably benign Het
Prkcz A T 4: 155,353,534 (GRCm39) I454N possibly damaging Het
Prrg3 A T X: 71,010,915 (GRCm39) S141C probably damaging Het
Ralgapa1 T A 12: 55,842,563 (GRCm39) probably null Het
Ryr3 A T 2: 112,777,189 (GRCm39) S323T probably benign Het
Sbpl A G 17: 24,173,860 (GRCm39) L8P unknown Het
Setd1b C T 5: 123,299,861 (GRCm39) probably benign Het
Sh2d3c G A 2: 32,636,172 (GRCm39) G332D probably damaging Het
Slc2a7 A G 4: 150,243,007 (GRCm39) E276G probably damaging Het
Slc35b3 A G 13: 39,121,791 (GRCm39) F73L possibly damaging Het
Sstr3 T G 15: 78,424,324 (GRCm39) D141A probably damaging Het
St8sia5 T C 18: 77,340,714 (GRCm39) C191R probably damaging Het
Sult1c2 T C 17: 54,269,538 (GRCm39) N230S probably benign Het
Thrap3 A G 4: 126,060,872 (GRCm39) probably benign Het
Tma16 C T 8: 66,936,823 (GRCm39) probably null Het
Tmem151a A G 19: 5,133,099 (GRCm39) S36P probably damaging Het
Vmn1r67 A G 7: 10,181,476 (GRCm39) T247A possibly damaging Het
Vmn2r50 A G 7: 9,781,834 (GRCm39) S304P possibly damaging Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Vmn2r72 T C 7: 85,387,708 (GRCm39) N619D probably damaging Het
Xab2 C A 8: 3,664,244 (GRCm39) 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
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'- TAGAAGGCCTCGTTGTCTCG -3'
(R):5'- TCTGGTGTAAAGTCAGAGATGC -3'

Sequencing Primer
(F):5'- TCGCGAGAGTTGAGGAAGTTG -3'
(R):5'- CTGCAACCTTAGGGACTGAGTG -3'
Posted On 2015-07-06