Incidental Mutation 'R5098:Agxt'
ID 388111
Institutional Source Beutler Lab
Gene Symbol Agxt
Ensembl Gene ENSMUSG00000026272
Gene Name alanine-glyoxylate aminotransferase
Synonyms Agt1, Agxt1
MMRRC Submission 042687-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R5098 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 93062962-93073143 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93065029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 146 (H146R)
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 benign
Transcript: ENSMUST00000027491
AA Change: H146R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000027491
Gene: ENSMUSG00000026272
AA Change: H146R

DomainStartEndE-ValueType
Pfam:Aminotran_5 45 398 3.3e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191039
Meta Mutation Damage Score 0.0726 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (54/54)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,847,944 (GRCm39) I784V probably benign Het
Art5 A G 7: 101,747,177 (GRCm39) F201L probably damaging Het
Bcl2a1b T A 9: 89,081,432 (GRCm39) M7K probably benign Het
Card10 G A 15: 78,660,917 (GRCm39) A1030V probably benign Het
Ccdc66 G A 14: 27,220,750 (GRCm39) T58M probably damaging Het
Cd72 C T 4: 43,452,610 (GRCm39) G74R probably damaging Het
Cdc27 T C 11: 104,398,113 (GRCm39) K749R probably damaging Het
Commd3 A T 2: 18,678,988 (GRCm39) T102S possibly damaging Het
Cyp2f2 A G 7: 26,829,304 (GRCm39) T270A possibly damaging Het
Dclre1b A G 3: 103,716,452 (GRCm39) probably benign Het
Dennd1b T A 1: 139,061,459 (GRCm39) D380E probably damaging Het
Dhx58 T C 11: 100,585,999 (GRCm39) E674G probably benign Het
Dnaaf9 A G 2: 130,640,101 (GRCm39) S128P probably damaging Het
Ecpas T C 4: 58,877,048 (GRCm39) D129G probably damaging Het
Exoc5 T C 14: 49,286,304 (GRCm39) T108A possibly damaging Het
Fat4 T C 3: 38,942,438 (GRCm39) S444P probably benign Het
Gm3327 A T 14: 44,362,292 (GRCm39) I64F unknown Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gpr15 T A 16: 58,538,890 (GRCm39) R66S probably damaging Het
Hmga1b T C 11: 120,654,018 (GRCm39) S102P probably benign Het
Kat6b G A 14: 21,669,083 (GRCm39) probably benign Het
Kdm1b A G 13: 47,216,467 (GRCm39) Y279C probably damaging Het
Krtap9-3 C A 11: 99,488,816 (GRCm39) C22F probably benign Het
Map3k14 T A 11: 103,115,185 (GRCm39) D817V probably damaging Het
Mybpc1 T C 10: 88,381,926 (GRCm39) D588G probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2t6 A G 14: 14,175,683 (GRCm38) V133A probably benign Het
Or5g29 A G 2: 85,420,976 (GRCm39) I31V probably benign Het
Pcdhb20 A G 18: 37,637,858 (GRCm39) D128G probably damaging Het
Pgap6 A T 17: 26,337,902 (GRCm39) N429Y probably damaging Het
Ppil6 A G 10: 41,366,616 (GRCm39) E47G probably null Het
Rad17 A T 13: 100,754,154 (GRCm39) *689K probably null Het
Scin A T 12: 40,127,541 (GRCm39) Y416* probably null Het
Serf1 A G 13: 100,245,575 (GRCm39) T18A probably benign Het
Sik2 T C 9: 50,906,891 (GRCm39) probably benign Het
Slc39a8 C A 3: 135,563,918 (GRCm39) N254K probably benign Het
Spint3 A G 2: 164,411,821 (GRCm39) F63L probably damaging Het
Suox A T 10: 128,507,027 (GRCm39) S334T probably damaging Het
Tas2r119 A G 15: 32,178,228 (GRCm39) M265V probably benign Het
Tmem126b A G 7: 90,118,850 (GRCm39) L146P probably damaging Het
Trpc3 G T 3: 36,717,047 (GRCm39) D330E probably benign Het
Ugt2a2 T C 5: 87,612,040 (GRCm39) E290G possibly damaging Het
Ugt2b37 T A 5: 87,390,812 (GRCm39) T352S probably damaging Het
Vmn1r40 T C 6: 89,691,930 (GRCm39) V249A probably damaging Het
Zc3h18 A G 8: 123,113,608 (GRCm39) D200G probably damaging Het
Zfp652 T C 11: 95,643,762 (GRCm39) V140A probably damaging Het
Other mutations in Agxt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02375:Agxt APN 1 93,063,425 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCCATGTGAGAGCCAGAATG -3'
(R):5'- TCCAAACTGATCCTGGGTATAGG -3'

Sequencing Primer
(F):5'- TGCCAATTACACTGGGGCATC -3'
(R):5'- TCCTGGGTATAGGAGCCCCTC -3'
Posted On 2016-06-06