Incidental Mutation 'R2099:Aga'
ID 233242
Institutional Source Beutler Lab
Gene Symbol Aga
Ensembl Gene ENSMUSG00000031521
Gene Name aspartylglucosaminidase
Synonyms
MMRRC Submission 040103-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2099 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 53964762-53976456 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 53974166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 286 (Y286*)
Ref Sequence ENSEMBL: ENSMUSP00000148133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033920] [ENSMUST00000209811] [ENSMUST00000211424]
AlphaFold Q64191
Predicted Effect probably null
Transcript: ENSMUST00000033920
AA Change: Y296*
SMART Domains Protein: ENSMUSP00000033920
Gene: ENSMUSG00000031521
AA Change: Y296*

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 null
Transcript: ENSMUST00000211424
AA Change: Y286*
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 G A 17: 45,817,820 (GRCm39) R14Q unknown Het
Anks1 T C 17: 28,197,465 (GRCm39) probably null Het
Arih2 A T 9: 108,493,937 (GRCm39) F159I probably damaging Het
Asxl1 A T 2: 153,194,187 (GRCm39) M46L possibly damaging Het
Atp23 G T 10: 126,727,595 (GRCm39) probably null Het
Carmil1 T A 13: 24,357,650 (GRCm39) L66F probably benign Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Cramp1 A G 17: 25,192,059 (GRCm39) V1027A probably benign Het
Cx3cr1 G A 9: 119,881,339 (GRCm39) A21V probably benign Het
Dcxr A G 11: 120,616,403 (GRCm39) F221S probably damaging Het
Dio2 T C 12: 90,696,597 (GRCm39) *130W probably null Het
Dnah2 T C 11: 69,384,063 (GRCm39) D1051G probably damaging Het
Ehbp1l1 T C 19: 5,768,429 (GRCm39) E958G possibly damaging Het
Eif3a C A 19: 60,752,551 (GRCm39) probably benign Het
Ephb2 T C 4: 136,388,066 (GRCm39) D678G probably damaging Het
Fpr3 G T 17: 18,191,443 (GRCm39) R238L probably damaging Het
Frem3 A G 8: 81,342,488 (GRCm39) S1594G probably benign Het
Gbp4 A C 5: 105,268,947 (GRCm39) L402W probably damaging Het
Gdpd5 T A 7: 99,097,696 (GRCm39) L164Q probably damaging Het
Il4i1 T C 7: 44,487,616 (GRCm39) probably null Het
Kcp G T 6: 29,496,164 (GRCm39) C723* probably null Het
Klhl18 A G 9: 110,284,486 (GRCm39) F2L probably damaging Het
Lepr T A 4: 101,630,185 (GRCm39) D633E probably damaging Het
Lifr A G 15: 7,186,732 (GRCm39) I79V probably benign Het
Mcrs1 A G 15: 99,147,827 (GRCm39) S27P probably benign Het
Mmp3 A G 9: 7,453,672 (GRCm39) D431G probably benign Het
Mtor T A 4: 148,634,649 (GRCm39) Y2423* probably null Het
Ndc80 A T 17: 71,811,773 (GRCm39) D484E probably benign Het
Ndufb8 T A 19: 44,543,749 (GRCm39) probably benign Het
Nmur2 A T 11: 55,931,589 (GRCm39) S41T probably benign Het
Notch2 T C 3: 98,022,637 (GRCm39) C819R possibly damaging Het
Or10d3 A G 9: 39,461,963 (GRCm39) V68A probably benign Het
Or4f7 A G 2: 111,644,177 (GRCm39) I298T probably benign Het
Or6c35 A T 10: 129,169,152 (GRCm39) N134I probably damaging Het
Pheta1 C T 5: 121,991,349 (GRCm39) P237L possibly damaging Het
Phip T C 9: 82,797,392 (GRCm39) H537R possibly damaging Het
Samd7 T C 3: 30,810,709 (GRCm39) V242A probably benign Het
Sde2 T C 1: 180,693,713 (GRCm39) L401P probably damaging Het
Slc20a1 A G 2: 129,049,758 (GRCm39) D340G probably benign Het
Slc2a5 T A 4: 150,227,634 (GRCm39) Y484* probably null Het
Spata31d1a A G 13: 59,853,885 (GRCm39) L27P probably damaging Het
Sqstm1 T C 11: 50,093,811 (GRCm39) T269A possibly damaging Het
Syne2 T C 12: 76,026,747 (GRCm39) V3525A probably benign Het
Tctn1 G A 5: 122,380,772 (GRCm39) P512L probably damaging Het
Tlr1 A G 5: 65,082,411 (GRCm39) F722S probably damaging Het
Treh A G 9: 44,595,943 (GRCm39) Y376C probably damaging Het
Trim47 T C 11: 115,997,170 (GRCm39) N529S probably damaging Het
Trrap T C 5: 144,719,049 (GRCm39) V184A possibly damaging Het
Tyrp1 T A 4: 80,753,616 (GRCm39) N102K possibly damaging Het
Uspl1 T A 5: 149,151,568 (GRCm39) S724T probably damaging Het
Vmn2r2 C A 3: 64,024,474 (GRCm39) K702N probably damaging Het
Zfp267 C T 3: 36,218,361 (GRCm39) T128I possibly damaging 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
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
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'- GTATTCACTCATAGGTATTATGCTCGG -3'
(R):5'- TGCACTCAGAAGCTGCCTAAC -3'

Sequencing Primer
(F):5'- ATGCTCGGTGTAAAAATATGGTTG -3'
(R):5'- TCAGAAGCTGCCTAACCTTTAC -3'
Posted On 2014-09-18