Incidental Mutation 'R9357:Glo1'
ID 708477
Institutional Source Beutler Lab
Gene Symbol Glo1
Ensembl Gene ENSMUSG00000024026
Gene Name glyoxalase 1
Synonyms 1110008E19Rik, Qglo, 0610009E22Rik, Glo1-r, 2510049H23Rik, Glo-1, Glo1-s, Glo-1s, Glo-1r
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9357 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 30811835-30831633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30831518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 3 (E3G)
Ref Sequence ENSEMBL: ENSMUSP00000024823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024823] [ENSMUST00000167624]
AlphaFold Q9CPU0
PDB Structure Crystal structure of mouse glyoxalase I complexed with methyl-gerfelin [X-RAY DIFFRACTION]
Crystal structure of mouse glyoxalase I complexed with zopolrestat [X-RAY DIFFRACTION]
Crystal structure of mouse glyoxalase I complexed with indomethacin [X-RAY DIFFRACTION]
Crystal structure of mouse glyoxalase I complexed with mAH [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000024823
AA Change: E3G

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000024823
Gene: ENSMUSG00000024026
AA Change: E3G

DomainStartEndE-ValueType
Pfam:Glyoxalase 31 174 5e-26 PFAM
Pfam:Glyoxalase_4 33 165 5e-9 PFAM
Pfam:Glyoxalase_2 37 175 1.5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167624
AA Change: E3G

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000126586
Gene: ENSMUSG00000024026
AA Change: E3G

DomainStartEndE-ValueType
Pfam:Glyoxalase 31 174 5e-26 PFAM
Pfam:Glyoxalase_4 33 164 5.6e-10 PFAM
Pfam:Glyoxalase_2 37 175 2.4e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene is responsible for the catalysis and formation of S-lactoyl-glutathione from methylglyoxal condensation and reduced glutatione. Glyoxalase I is linked to HLA and is localized to 6p21.3-p21.1, between HLA and the centromere. [provided by RefSeq, Jul 2008]
PHENOTYPE: This locus controls electrophoretic mobility and activity level of erythrocyte GLO1. The a allele produces a fast migrating band seen in AKR, CBA/H and C57BL/6; the b allele, a slow band, in MA/MyJ. At least 6 different activity-determining alleles, designated ra through rf, are found among strains. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,901,696 (GRCm39) V900A probably benign Het
Adam28 C T 14: 68,879,479 (GRCm39) A190T probably benign Het
Ager T C 17: 34,817,541 (GRCm39) V116A probably damaging Het
Agt G T 8: 125,291,065 (GRCm39) H81N probably benign Het
Apc2 T C 10: 80,146,872 (GRCm39) V642A probably damaging Het
Atg4b C T 1: 93,713,648 (GRCm39) T325M probably damaging Het
Atp10b A G 11: 43,150,711 (GRCm39) S1470G probably benign Het
Cacul1 A G 19: 60,533,942 (GRCm39) I220T probably benign Het
Ccdc7a T C 8: 129,671,136 (GRCm39) probably null Het
Cnnm1 A C 19: 43,429,827 (GRCm39) D315A probably damaging Het
Fbxo24 A G 5: 137,611,096 (GRCm39) F565L probably damaging Het
Fpr-rs4 T A 17: 18,242,211 (GRCm39) S73T probably damaging Het
Gbp7 T C 3: 142,248,889 (GRCm39) V384A probably benign Het
Gcnt2 A T 13: 41,041,732 (GRCm39) H297L possibly damaging Het
Gsdmc4 T C 15: 63,772,196 (GRCm39) D161G probably benign Het
Ifi213 T A 1: 173,396,392 (GRCm39) M561L probably benign Het
Ighv1-63 A G 12: 115,459,478 (GRCm39) S40P probably damaging Het
Itpr2 A G 6: 146,260,814 (GRCm39) L971P probably damaging Het
Lrp2 A T 2: 69,336,917 (GRCm39) I1285N probably damaging Het
Map1b A T 13: 99,566,708 (GRCm39) Y2004* probably null Het
Mindy1 C T 3: 95,202,590 (GRCm39) L394F probably benign Het
Mug1 A G 6: 121,852,450 (GRCm39) D846G probably benign Het
Myh7b A G 2: 155,463,268 (GRCm39) E500G probably damaging Het
Myo18a C T 11: 77,733,014 (GRCm39) T1348M probably damaging Het
Myo7b A T 18: 32,093,129 (GRCm39) I2027N probably damaging Het
Neb T C 2: 52,069,580 (GRCm39) probably null Het
Obscn G A 11: 58,929,592 (GRCm39) R5208C probably damaging Het
Parg G A 14: 31,996,874 (GRCm39) D827N probably damaging Het
Pcdha6 A T 18: 37,102,226 (GRCm39) H473L probably benign Het
Pde4dip A G 3: 97,625,645 (GRCm39) S1318P probably benign Het
Ppan T C 9: 20,801,220 (GRCm39) S166P possibly damaging Het
Ppargc1b C A 18: 61,448,939 (GRCm39) A128S probably damaging Het
Rdh16f2 T A 10: 127,712,915 (GRCm39) D304E possibly damaging Het
Sh3pxd2a A T 19: 47,260,448 (GRCm39) L435Q probably damaging Het
Slc35d1 A T 4: 103,065,333 (GRCm39) Y183N Het
Sspo T C 6: 48,443,989 (GRCm39) S2166P possibly damaging Het
Tent5a A T 9: 85,208,672 (GRCm39) N50K probably benign Het
Twf2 T C 9: 106,092,100 (GRCm39) F319S probably benign Het
Ush2a C T 1: 188,607,147 (GRCm39) T4014M probably benign Het
Vmn1r3 T G 4: 3,185,149 (GRCm39) T53P probably damaging Het
Vmn2r76 T C 7: 85,880,428 (GRCm39) E86G probably benign Het
Wdtc1 A G 4: 133,023,782 (GRCm39) Y530H probably damaging Het
Xdh A G 17: 74,214,711 (GRCm39) F745L probably damaging Het
Xdh A C 17: 74,233,541 (GRCm39) probably null Het
Zfp358 T C 8: 3,545,568 (GRCm39) L50P probably damaging Het
Other mutations in Glo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01524:Glo1 APN 17 30,815,393 (GRCm39) missense possibly damaging 0.75
R0067:Glo1 UTSW 17 30,813,245 (GRCm39) splice site probably null
R0963:Glo1 UTSW 17 30,819,085 (GRCm39) missense probably benign
R1901:Glo1 UTSW 17 30,815,382 (GRCm39) missense probably benign
R2113:Glo1 UTSW 17 30,823,014 (GRCm39) nonsense probably null
R5283:Glo1 UTSW 17 30,819,047 (GRCm39) missense probably benign
R6737:Glo1 UTSW 17 30,816,814 (GRCm39) missense probably benign
R7201:Glo1 UTSW 17 30,816,828 (GRCm39) missense probably benign
R9571:Glo1 UTSW 17 30,816,835 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TTCTGAAGATGGGGATCCCTC -3'
(R):5'- AGACAGCCAACAGCCATGTG -3'

Sequencing Primer
(F):5'- AAGATGGGGATCCCTCTGCAC -3'
(R):5'- AACAGCCATGTGCACCGTG -3'
Posted On 2022-04-18