Incidental Mutation 'R2407:Agxt'
ID 248037
Institutional Source Beutler Lab
Gene Symbol Agxt
Ensembl Gene ENSMUSG00000026272
Gene Name alanine-glyoxylate aminotransferase
Synonyms Agt1, Agxt1
MMRRC Submission 040373-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R2407 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 93062962-93073143 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 93063502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 135 (A135S)
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: A135S

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000027491
Gene: ENSMUSG00000026272
AA Change: A135S

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.7%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik A T 6: 65,930,212 (GRCm39) N149I probably benign Het
Aldh1a2 A T 9: 71,159,880 (GRCm39) I40F probably damaging Het
Ang T A 14: 51,339,103 (GRCm39) C81* probably null Het
Apc G T 18: 34,447,315 (GRCm39) V1370F possibly damaging Het
Arfgef3 T C 10: 18,553,614 (GRCm39) T127A possibly damaging Het
Cd1d1 A G 3: 86,905,489 (GRCm39) L168P probably damaging Het
Cfap251 A T 5: 123,428,032 (GRCm39) M510L probably benign Het
Epb42 C A 2: 120,855,233 (GRCm39) V451F probably damaging Het
F5 T A 1: 164,039,441 (GRCm39) L2017Q probably damaging Het
Hmcn2 A T 2: 31,225,424 (GRCm39) probably null Het
Kif13a G A 13: 46,930,573 (GRCm39) P164S probably damaging Het
Kirrel1 T A 3: 86,992,150 (GRCm39) I593F probably benign Het
Lin28b A T 10: 45,257,183 (GRCm39) I265N possibly damaging Het
Mctp2 A T 7: 71,850,155 (GRCm39) D507E probably benign Het
Morc3 G A 16: 93,641,215 (GRCm39) probably null Het
Myo3b T C 2: 70,085,597 (GRCm39) Y750H probably damaging Het
Nrp1 T C 8: 129,158,426 (GRCm39) S238P probably damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Otog A G 7: 45,890,964 (GRCm39) E41G probably benign Het
Pclo G T 5: 14,728,946 (GRCm39) probably benign Het
Pdzd2 T C 15: 12,373,247 (GRCm39) D2296G probably damaging Het
Peak1 A G 9: 56,166,510 (GRCm39) C473R probably damaging Het
Rad51ap2 T A 12: 11,508,502 (GRCm39) M808K probably damaging Het
Sec24b A C 3: 129,795,965 (GRCm39) S651A probably benign Het
Slc17a3 G A 13: 24,036,418 (GRCm39) probably null Het
Slc4a10 A G 2: 62,143,687 (GRCm39) H1074R probably benign Het
Spata31d1b A G 13: 59,864,660 (GRCm39) K603E possibly damaging Het
Spata31e2 A T 1: 26,721,919 (GRCm39) M1087K possibly damaging Het
Sptbn4 T A 7: 27,117,523 (GRCm39) K409* probably null Het
Tacc2 G A 7: 130,223,770 (GRCm39) V152I possibly damaging Het
Tiam2 A G 17: 3,527,536 (GRCm39) M65V probably benign Het
Tmem131l G T 3: 83,829,355 (GRCm39) Q1100K probably benign Het
Togaram1 T C 12: 65,014,444 (GRCm39) M565T probably damaging Het
Trib1 T C 15: 59,526,449 (GRCm39) Y340H probably benign Het
Wdr7 A T 18: 63,893,794 (GRCm39) M643L probably benign Het
Zfp51 A T 17: 21,684,093 (GRCm39) H236L 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
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
Predicted Primers PCR Primer
(F):5'- CATCTAGGGGTGGTGATCAC -3'
(R):5'- AGCATCCTATTCAGGGGTGG -3'

Sequencing Primer
(F):5'- TGCCCACTGTCTAGATCATGGAG -3'
(R):5'- GTGGAGGCATTAGGGTCAC -3'
Posted On 2014-11-11