Incidental Mutation 'R9799:Agxt'
ID 735080
Institutional Source Beutler Lab
Gene Symbol Agxt
Ensembl Gene ENSMUSG00000026272
Gene Name alanine-glyoxylate aminotransferase
Synonyms Agt1, Agxt1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R9799 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 93062962-93073143 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93063070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 19 (W19R)
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: W19R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000027491
Gene: ENSMUSG00000026272
AA Change: W19R

DomainStartEndE-ValueType
Pfam:Aminotran_5 45 398 3.3e-64 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.7%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,132,998 (GRCm39) Y1309C probably benign Het
Adcy2 T C 13: 68,768,961 (GRCm39) T1056A probably benign Het
Adcy2 T A 13: 68,805,489 (GRCm39) R826S probably damaging Het
Akr1b8 G A 6: 34,333,278 (GRCm39) E52K possibly damaging Het
Arhgef10 T C 8: 14,990,268 (GRCm39) Y248H probably damaging Het
Arhgef38 T C 3: 132,855,391 (GRCm39) D232G unknown Het
Arid4b T C 13: 14,358,967 (GRCm39) S668P probably benign Het
Ccdc136 T A 6: 29,417,505 (GRCm39) S775R probably damaging Het
Ccl25 T C 8: 4,377,799 (GRCm39) F20L unknown Het
Cimap1a A T 7: 140,430,706 (GRCm39) E254D probably benign Het
Cr2 T A 1: 194,842,988 (GRCm39) H218L probably benign Het
Csnka2ip T C 16: 64,298,672 (GRCm39) K564R unknown Het
Cyp2r1 A G 7: 114,151,207 (GRCm39) F371L probably benign Het
Ddx50 A T 10: 62,469,812 (GRCm39) F392I probably damaging Het
Dnah7a T C 1: 53,557,968 (GRCm39) T2149A probably benign Het
Emx2 A G 19: 59,448,036 (GRCm39) Y130C possibly damaging Het
Erbin T C 13: 103,971,384 (GRCm39) D744G probably benign Het
Gcm2 T C 13: 41,258,924 (GRCm39) N140S probably damaging Het
Gnai2 C T 9: 107,512,380 (GRCm39) A13T probably benign Het
Gpr150 T C 13: 76,204,636 (GRCm39) Y103C possibly damaging Het
Gstp2 A G 19: 4,091,901 (GRCm39) probably null Het
Kdr A G 5: 76,117,752 (GRCm39) I667T possibly damaging Het
Lpin1 A G 12: 16,612,400 (GRCm39) I534T Het
Lrrtm3 T A 10: 63,925,749 (GRCm39) probably benign Het
Meiob C T 17: 25,042,574 (GRCm39) T134I probably benign Het
Msh2 G T 17: 88,024,933 (GRCm39) A604S probably damaging Het
Mterf3 T C 13: 67,062,780 (GRCm39) T319A possibly damaging Het
Myo3a C T 2: 22,490,181 (GRCm39) T1514I probably damaging Het
Ndfip2 T C 14: 105,496,400 (GRCm39) M98T possibly damaging Het
Nfatc2ip A G 7: 125,989,739 (GRCm39) V215A probably damaging Het
Or52e19 A T 7: 102,959,065 (GRCm39) T46S probably damaging Het
Or8k41 A T 2: 86,313,732 (GRCm39) M118K probably damaging Het
Pabpc6 C T 17: 9,888,114 (GRCm39) E146K probably damaging Het
Pde3b A G 7: 114,122,613 (GRCm39) Y727C probably damaging Het
Pemt A G 11: 59,937,174 (GRCm39) F30L possibly damaging Het
Plch1 A G 3: 63,605,591 (GRCm39) S1438P possibly damaging Het
Pnma2 T A 14: 67,154,009 (GRCm39) H144Q probably benign Het
Ppp1r14b A G 19: 6,952,825 (GRCm39) N70S possibly damaging Het
Psmd1 T A 1: 86,054,236 (GRCm39) M725K possibly damaging Het
Rab3gap1 A G 1: 127,858,489 (GRCm39) K533E probably benign Het
Rb1cc1 C A 1: 6,315,126 (GRCm39) H426Q probably damaging Het
Rimbp3 A G 16: 17,027,641 (GRCm39) E355G possibly damaging Het
Rxfp1 A G 3: 79,578,182 (GRCm39) F170L probably damaging Het
Sema3f G T 9: 107,562,562 (GRCm39) A473E probably damaging Het
Serpinb3a T G 1: 106,974,892 (GRCm39) I214L probably benign Het
Siglec1 G T 2: 130,915,941 (GRCm39) P1307Q probably damaging Het
Srd5a2 A C 17: 74,331,535 (GRCm39) I154S possibly damaging Het
Sugp1 A G 8: 70,523,068 (GRCm39) E537G probably damaging Het
Tbc1d30 T C 10: 121,142,074 (GRCm39) E91G possibly damaging Het
Tiparp A T 3: 65,454,973 (GRCm39) N373Y probably benign Het
Tmem217 A C 17: 29,745,232 (GRCm39) I166S probably damaging Het
Top1 T A 2: 160,563,406 (GRCm39) Y746N probably damaging Het
Tubb2a C T 13: 34,260,607 (GRCm39) D31N probably benign Het
Utrn T G 10: 12,585,736 (GRCm39) I1014L probably benign Het
Vtn T C 11: 78,392,625 (GRCm39) I401T probably benign Het
Wwc2 G T 8: 48,321,595 (GRCm39) H506Q unknown Het
Xab2 G T 8: 3,668,182 (GRCm39) T132N 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
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
Predicted Primers PCR Primer
(F):5'- CTGTGGAAAGCTCACACCTC -3'
(R):5'- TGATCACCACCCCTAGATGGAG -3'

Sequencing Primer
(F):5'- TGGAAAGCTCACACCTCCACTG -3'
(R):5'- GGCCTACCTGAAGCATCTC -3'
Posted On 2022-11-14