Incidental Mutation 'R6794:Agxt'
ID 531650
Institutional Source Beutler Lab
Gene Symbol Agxt
Ensembl Gene ENSMUSG00000026272
Gene Name alanine-glyoxylate aminotransferase
Synonyms Agt1, Agxt1
MMRRC Submission 044907-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R6794 (G1)
Quality Score 190.009
Status Validated
Chromosome 1
Chromosomal Location 93062962-93073143 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93063104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 30 (V30A)
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 possibly damaging
Transcript: ENSMUST00000027491
AA Change: V30A

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000027491
Gene: ENSMUSG00000026272
AA Change: V30A

DomainStartEndE-ValueType
Pfam:Aminotran_5 45 398 3.3e-64 PFAM
Meta Mutation Damage Score 0.0942 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.4%
Validation Efficiency 100% (37/37)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf7 T C 15: 102,465,900 (GRCm39) K87E probably benign Het
Bltp3b T C 10: 89,641,624 (GRCm39) S932P probably benign Het
Btg4 A C 9: 51,030,651 (GRCm39) K250N possibly damaging Het
Cracdl A G 1: 37,676,936 (GRCm39) probably null Het
Cyc1 A G 15: 76,228,850 (GRCm39) Y132C probably damaging Het
Dcaf5 A T 12: 80,445,667 (GRCm39) D137E possibly damaging Het
Ddr2 C A 1: 169,809,667 (GRCm39) W770L probably damaging Het
Disc1 T C 8: 125,814,514 (GRCm39) V126A probably benign Het
Dock8 A G 19: 25,099,805 (GRCm39) N643D probably benign Het
Gabrg1 C T 5: 70,973,314 (GRCm39) R75H probably damaging Het
Gm14418 A T 2: 177,079,631 (GRCm39) H121Q probably damaging Het
H2-Ob T A 17: 34,460,162 (GRCm39) L20Q possibly damaging Het
Herpud1 T A 8: 95,121,398 (GRCm39) probably null Het
Ica1 T C 6: 8,653,659 (GRCm39) D326G probably benign Het
Jph3 T C 8: 122,512,124 (GRCm39) L704P probably benign Het
Kmt2e TGCCGCCGCCGCCGCCACCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC 5: 23,704,474 (GRCm39) probably benign Het
Lnpep T G 17: 17,751,421 (GRCm39) N948T probably damaging Het
Mdn1 T A 4: 32,741,893 (GRCm39) V3888D probably damaging Het
Muc5ac T C 7: 141,363,289 (GRCm39) probably benign Het
Nfkb2 T C 19: 46,296,159 (GRCm39) probably null Het
Pik3r2 T C 8: 71,223,361 (GRCm39) H380R probably benign Het
Prim1 T C 10: 127,854,018 (GRCm39) S124P probably damaging Het
Prokr1 T C 6: 87,565,675 (GRCm39) T57A possibly damaging Het
Ptpn4 T C 1: 119,671,120 (GRCm39) T213A probably damaging Het
Sapcd2 A G 2: 25,266,379 (GRCm39) S389G probably damaging Het
Scn5a T C 9: 119,364,955 (GRCm39) Q421R probably damaging Het
Serac1 A G 17: 6,101,985 (GRCm39) Y430H probably damaging Het
Shf A G 2: 122,184,321 (GRCm39) L234P probably damaging Het
Slc22a29 G T 19: 8,138,887 (GRCm39) S525Y probably benign Het
Thbs1 A G 2: 117,950,519 (GRCm39) probably null Het
Tln2 T C 9: 67,193,840 (GRCm39) D666G probably benign Het
Ubqlnl C T 7: 103,797,992 (GRCm39) E502K probably benign Het
Vmn2r118 T A 17: 55,899,348 (GRCm39) H852L possibly damaging Het
Vmn2r72 A G 7: 85,387,204 (GRCm39) F787L probably damaging Het
Xpc G A 6: 91,483,839 (GRCm39) A169V probably benign Het
Ylpm1 A G 12: 85,043,655 (GRCm39) H131R unknown 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
R5098:Agxt UTSW 1 93,065,029 (GRCm39) missense probably benign 0.00
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'- CTGACAGAAGGACAAACATTGATC -3'
(R):5'- AGGTCAGATCTGCCTGCTAC -3'

Sequencing Primer
(F):5'- CAAACATTGATCAGGGTTAAATTGAC -3'
(R):5'- GAGTGATCACCACCCCTAGATGG -3'
Posted On 2018-08-29