Incidental Mutation 'IGL02375:Agxt'
ID 291066
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agxt
Ensembl Gene ENSMUSG00000026272
Gene Name alanine-glyoxylate aminotransferase
Synonyms Agt1, Agxt1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL02375
Quality Score
Status
Chromosome 1
Chromosomal Location 93062962-93073143 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93063425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 109 (E109G)
Ref Sequence ENSEMBL: ENSMUSP00000027491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027491]
AlphaFold O35423
PDB Structure Crystal structure of Putative aminotransferase (AAH25799.1) from MUS MUSCULUS at 1.65 A resolution [X-RAY DIFFRACTION]
Crystal structure of Putative aminotransferase (AAH25799.1) from MUS MUSCULUS at 1.80 A resolution [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000027491
AA Change: E109G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027491
Gene: ENSMUSG00000026272
AA Change: E109G

DomainStartEndE-ValueType
Pfam:Aminotran_5 45 398 3.3e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191039
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased urinary oxalate levels and male mice suffer from bladder stones. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,854,813 (GRCm39) K76N possibly damaging Het
Alcam T C 16: 52,109,299 (GRCm39) T325A probably benign Het
Apol7c T C 15: 77,413,049 (GRCm39) E67G probably damaging Het
Bco1 C A 8: 117,840,178 (GRCm39) S232Y probably benign Het
Cacna1c A T 6: 118,652,884 (GRCm39) V763D probably damaging Het
Ccdc15 T C 9: 37,215,628 (GRCm39) D618G probably damaging Het
Cimip1 A G 2: 173,364,496 (GRCm39) M14V probably benign Het
Col6a5 T C 9: 105,783,312 (GRCm39) N1603S unknown Het
Cyp4v3 A G 8: 45,761,411 (GRCm39) probably null Het
Eml5 A T 12: 98,810,346 (GRCm39) V870E probably damaging Het
Epn2 A G 11: 61,410,497 (GRCm39) V512A probably damaging Het
Farp2 A G 1: 93,504,185 (GRCm39) R321G probably damaging Het
Garin3 G T 11: 46,297,379 (GRCm39) V228L probably damaging Het
Gprasp1 T C X: 134,701,552 (GRCm39) S582P probably damaging Het
Grhl2 T C 15: 37,291,821 (GRCm39) V303A probably damaging Het
Grik1 A T 16: 87,743,444 (GRCm39) F594L probably damaging Het
Hivep1 A G 13: 42,309,925 (GRCm39) K722E probably benign Het
Htr5b G A 1: 121,455,564 (GRCm39) R119C probably damaging Het
Ifit2 T C 19: 34,551,737 (GRCm39) S426P probably benign Het
Kif13a T C 13: 46,978,698 (GRCm39) Y234C probably damaging Het
Mios T A 6: 8,222,598 (GRCm39) F511I probably benign Het
Mtfmt T C 9: 65,346,849 (GRCm39) W148R probably damaging Het
Myo1c C A 11: 75,552,400 (GRCm39) T391N probably benign Het
Nlrp1a A T 11: 71,004,339 (GRCm39) L710* probably null Het
Nlrp1b A G 11: 71,052,506 (GRCm39) I971T probably damaging Het
Nup43 A G 10: 7,549,358 (GRCm39) D171G probably damaging Het
Or5b12b A G 19: 12,861,305 (GRCm39) E20G probably benign Het
P2rx7 T C 5: 122,811,719 (GRCm39) probably benign Het
Pgap6 T A 17: 26,338,473 (GRCm39) Y512N probably benign Het
Poli C T 18: 70,656,363 (GRCm39) G155R probably damaging Het
Rad9b T C 5: 122,471,405 (GRCm39) S220G possibly damaging Het
Rgn C T X: 20,416,700 (GRCm39) S28L probably damaging Het
Tcp11l2 G A 10: 84,440,932 (GRCm39) probably null Het
Tenm4 G A 7: 96,353,344 (GRCm39) V379I possibly damaging Het
Thsd7a A T 6: 12,343,264 (GRCm39) C1118S probably damaging Het
Trpm7 A G 2: 126,667,664 (GRCm39) Y776H probably damaging Het
Trpv4 T C 5: 114,774,418 (GRCm39) N222S probably benign Het
Tut1 C T 19: 8,941,403 (GRCm39) R397C probably damaging Het
Vmn1r72 T A 7: 11,403,672 (GRCm39) T259S probably benign Het
Wdr17 A G 8: 55,149,423 (GRCm39) S2P possibly damaging Het
Other mutations in Agxt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02938:Agxt APN 1 93,072,831 (GRCm39) missense probably damaging 1.00
R1004:Agxt UTSW 1 93,063,421 (GRCm39) missense possibly damaging 0.94
R1511:Agxt UTSW 1 93,063,490 (GRCm39) missense probably damaging 1.00
R1539:Agxt UTSW 1 93,065,701 (GRCm39) missense probably damaging 0.98
R2049:Agxt UTSW 1 93,065,037 (GRCm39) missense probably benign
R2407:Agxt UTSW 1 93,063,502 (GRCm39) missense probably benign 0.25
R4910:Agxt UTSW 1 93,063,436 (GRCm39) missense probably benign 0.01
R5013:Agxt UTSW 1 93,069,779 (GRCm39) splice site probably benign
R5098:Agxt UTSW 1 93,065,029 (GRCm39) missense probably benign 0.00
R6794:Agxt UTSW 1 93,063,104 (GRCm39) missense possibly damaging 0.88
R7221:Agxt UTSW 1 93,065,623 (GRCm39) missense possibly damaging 0.77
R8964:Agxt UTSW 1 93,072,869 (GRCm39) missense possibly damaging 0.71
R9799:Agxt UTSW 1 93,063,070 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16