Incidental Mutation 'R7221:Agxt'
ID 561783
Institutional Source Beutler Lab
Gene Symbol Agxt
Ensembl Gene ENSMUSG00000026272
Gene Name alanine-glyoxylate aminotransferase
Synonyms Agt1, Agxt1
MMRRC Submission 045293-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R7221 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 93062962-93073143 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 93065623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 164 (G164V)
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: G164V

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000027491
Gene: ENSMUSG00000026272
AA Change: G164V

DomainStartEndE-ValueType
Pfam:Aminotran_5 45 398 3.3e-64 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (77/77)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A G 3: 59,836,354 (GRCm39) probably benign Het
Abr A C 11: 76,313,987 (GRCm39) M720R probably benign Het
Acad10 G A 5: 121,768,273 (GRCm39) T761M probably damaging Het
Ankar C T 1: 72,689,390 (GRCm39) G1247D probably damaging Het
Bptf A C 11: 106,945,658 (GRCm39) L2527R probably damaging Het
Brinp2 T C 1: 158,094,117 (GRCm39) H195R possibly damaging Het
Cacna2d4 G T 6: 119,213,624 (GRCm39) R14S probably benign Het
Cep126 A T 9: 8,100,988 (GRCm39) C515* probably null Het
Chia1 A T 3: 106,039,236 (GRCm39) N442I probably damaging Het
Clasp2 A G 9: 113,681,825 (GRCm39) D327G probably damaging Het
Cnbd2 T C 2: 156,215,581 (GRCm39) F519L probably benign Het
Cntrl T A 2: 35,041,869 (GRCm39) F1214I possibly damaging Het
Cul9 A T 17: 46,839,491 (GRCm39) M829K probably damaging Het
Cyp4b1 T C 4: 115,493,175 (GRCm39) Q223R possibly damaging Het
Defb37 A T 8: 19,040,988 (GRCm39) M1K probably null Het
Dnah7c A T 1: 46,494,937 (GRCm39) Q55L possibly damaging Het
Efcab3 A G 11: 104,791,432 (GRCm39) N2882S probably benign Het
Eif2b4 A T 5: 31,345,131 (GRCm39) D463E possibly damaging Het
Elapor1 T G 3: 108,382,317 (GRCm39) D232A possibly damaging Het
Elovl1 C T 4: 118,288,811 (GRCm39) H167Y probably damaging Het
Emb T A 13: 117,404,013 (GRCm39) L255Q probably damaging Het
Eogt T C 6: 97,089,685 (GRCm39) Y465C probably damaging Het
Erc2 A G 14: 27,375,115 (GRCm39) H111R probably damaging Het
Fam234b T C 6: 135,205,529 (GRCm39) F498S probably damaging Het
Fgfr3 GAGGCTGGCAGCGTGTACGCAGGC GAGGC 5: 33,890,092 (GRCm39) probably null Het
Flrt3 T A 2: 140,503,090 (GRCm39) E179D probably damaging Het
Fndc3a T C 14: 72,793,597 (GRCm39) R993G probably benign Het
Gm14325 T C 2: 177,476,403 (GRCm39) T14A probably damaging Het
Gm5464 T A 14: 67,106,681 (GRCm39) V106D unknown Het
Gpatch11 T A 17: 79,149,546 (GRCm39) I182N possibly damaging Het
Grm6 A G 11: 50,753,870 (GRCm39) R725G probably damaging Het
Hap1 A T 11: 100,239,655 (GRCm39) M588K probably benign Het
Icam2 A G 11: 106,273,268 (GRCm39) F15L probably benign Het
Ints8 A G 4: 11,225,613 (GRCm39) M648T probably benign Het
Ipo11 A T 13: 107,029,065 (GRCm39) L296Q probably damaging Het
Kirrel1 G A 3: 86,993,704 (GRCm39) Q518* probably null Het
Krt18 G T 15: 101,937,967 (GRCm39) D155Y possibly damaging Het
Lctl A T 9: 64,026,217 (GRCm39) K91* probably null Het
Marf1 C A 16: 13,960,349 (GRCm39) R565L probably damaging Het
Med13 A T 11: 86,178,921 (GRCm39) D1458E probably benign Het
Mroh8 T A 2: 157,071,837 (GRCm39) Y556F probably benign Het
Muc16 C T 9: 18,553,495 (GRCm39) G4266D probably benign Het
Nsrp1 A T 11: 76,939,249 (GRCm39) F182I probably damaging Het
Obox3 A T 7: 15,359,983 (GRCm39) Y229N probably benign Het
Or11h7 A T 14: 50,891,528 (GRCm39) Y278F probably damaging Het
Or2b2 T C 13: 21,887,272 (GRCm39) S34P probably damaging Het
Or2b4 A G 17: 38,116,452 (GRCm39) K139E probably benign Het
Or4a74 T C 2: 89,440,272 (GRCm39) Y58C probably damaging Het
Or4c108 A G 2: 88,803,497 (GRCm39) V246A probably damaging Het
Or4p22 T A 2: 88,317,973 (GRCm39) V299D probably damaging Het
Or8d1 A G 9: 38,766,538 (GRCm39) Y60C probably damaging Het
Pabpc2 T A 18: 39,906,963 (GRCm39) V76D possibly damaging Het
Parp9 T C 16: 35,774,071 (GRCm39) W348R probably benign Het
Pdp1 T C 4: 11,961,004 (GRCm39) T455A probably damaging Het
Phactr2 A C 10: 13,122,783 (GRCm39) D446E possibly damaging Het
Pi4kb T C 3: 94,901,500 (GRCm39) L389P probably damaging Het
Pla2g4f C T 2: 120,131,476 (GRCm39) R749H probably benign Het
Plec A G 15: 76,059,974 (GRCm39) V3321A probably damaging Het
Plod2 T C 9: 92,466,580 (GRCm39) V180A probably damaging Het
Plppr5 A G 3: 117,414,618 (GRCm39) I80V probably damaging Het
Potefam3d T G 8: 69,975,316 (GRCm39) D50A probably benign Het
Rubcn T C 16: 32,687,293 (GRCm39) probably null Het
Sacs T C 14: 61,446,255 (GRCm39) V2767A probably damaging Het
Selenbp2 C G 3: 94,611,133 (GRCm39) Y414* probably null Het
Slc45a4 A T 15: 73,458,259 (GRCm39) M430K probably benign Het
Smg1 A G 7: 117,782,020 (GRCm39) L1145P possibly damaging Het
Spns2 A G 11: 72,347,742 (GRCm39) V316A probably benign Het
Srl T A 16: 4,300,811 (GRCm39) E753D probably damaging Het
Thada T C 17: 84,771,794 (GRCm39) T23A possibly damaging Het
Tmem231 T C 8: 112,660,308 (GRCm39) T31A probably benign Het
Tpr C T 1: 150,321,929 (GRCm39) T2321M possibly damaging Het
Ttn T A 2: 76,772,195 (GRCm39) N2615I unknown Het
Vmn1r41 A G 6: 89,724,034 (GRCm39) I192V probably benign Het
Vmn2r83 A T 10: 79,316,001 (GRCm39) T466S probably benign Het
Vnn1 A G 10: 23,770,952 (GRCm39) D60G probably benign Het
Wiz G A 17: 32,578,139 (GRCm39) P449S probably benign Het
Zic1 A G 9: 91,246,785 (GRCm39) S96P probably damaging Het
Zw10 T A 9: 48,981,012 (GRCm39) S471T probably benign 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
R6794:Agxt UTSW 1 93,063,104 (GRCm39) missense possibly damaging 0.88
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'- CTCCATCATCGTGCTTTGACAG -3'
(R):5'- GTCATTGATAGCCCTGCAGC -3'

Sequencing Primer
(F):5'- CATCATCGTGCTTTGACAGAAAAGG -3'
(R):5'- ATAGCCCTGCAGCTCCCTG -3'
Posted On 2019-06-26