Incidental Mutation 'IGL01524:Glo1'
ID 89506
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01524
Quality Score
Status
Chromosome 17
Chromosomal Location 30811835-30831633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30815393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 141 (R141G)
Ref Sequence ENSEMBL: ENSMUSP00000126586 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024823] [ENSMUST00000167624]
AlphaFold Q9CPU0
Predicted Effect possibly damaging
Transcript: ENSMUST00000024823
AA Change: R141G

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000024823
Gene: ENSMUSG00000024026
AA Change: R141G

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 possibly damaging
Transcript: ENSMUST00000167624
AA Change: R141G

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126586
Gene: ENSMUSG00000024026
AA Change: R141G

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
Validation Efficiency
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat A T 8: 60,969,106 (GRCm39) D117V probably damaging Het
Abca14 T C 7: 119,852,644 (GRCm39) Y870H possibly damaging Het
Ankrd36 T C 11: 5,585,092 (GRCm39) I301T probably benign Het
Atp10b T A 11: 43,150,672 (GRCm39) S1457T probably benign Het
Bltp1 A G 3: 36,996,531 (GRCm39) D1081G possibly damaging Het
Ccdc175 G A 12: 72,177,916 (GRCm39) probably benign Het
Ccdc93 A G 1: 121,389,628 (GRCm39) K224E probably benign Het
Cep131 C T 11: 119,956,786 (GRCm39) A886T probably damaging Het
Clip1 A C 5: 123,717,442 (GRCm39) H1282Q probably damaging Het
Ctcfl T G 2: 172,959,177 (GRCm39) D183A probably benign Het
Cyp17a1 C T 19: 46,659,495 (GRCm39) V112I probably benign Het
Fhod3 T C 18: 25,263,659 (GRCm39) I1521T probably damaging Het
Gipc2 A G 3: 151,843,214 (GRCm39) I141T probably damaging Het
Ipmk C A 10: 71,208,631 (GRCm39) A140E probably damaging Het
Kynu A G 2: 43,561,394 (GRCm39) D310G possibly damaging Het
Myo1f T A 17: 33,798,857 (GRCm39) I174N probably damaging Het
Nat10 T A 2: 103,588,102 (GRCm39) N8Y probably damaging Het
Nhlrc2 A G 19: 56,564,587 (GRCm39) I304V probably benign Het
Pdk4 T C 6: 5,491,979 (GRCm39) H31R probably damaging Het
Sema6d T C 2: 124,505,995 (GRCm39) V644A possibly damaging Het
Slc30a4 T A 2: 122,544,308 (GRCm39) K11N possibly damaging Het
Slc6a3 T C 13: 73,686,668 (GRCm39) S12P probably benign Het
Spats2 C T 15: 99,110,127 (GRCm39) A508V probably benign Het
Tinag A G 9: 76,952,820 (GRCm39) Y55H probably damaging Het
Topbp1 T C 9: 103,188,844 (GRCm39) I172T possibly damaging Het
Trim17 A G 11: 58,861,423 (GRCm39) T279A probably damaging Het
Vmn1r216 C A 13: 23,283,519 (GRCm39) N67K probably benign Het
Washc4 T C 10: 83,411,996 (GRCm39) L709P probably benign Het
Xdh T C 17: 74,230,132 (GRCm39) probably null Het
Zfhx4 C T 3: 5,309,036 (GRCm39) P754L probably damaging Het
Zfp267 T C 3: 36,218,729 (GRCm39) Y251H possibly damaging Het
Zfp623 C A 15: 75,819,528 (GRCm39) S161R probably benign Het
Zmat3 G A 3: 32,395,827 (GRCm39) R227C possibly damaging Het
Other mutations in Glo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9357:Glo1 UTSW 17 30,831,518 (GRCm39) missense probably benign 0.16
R9571:Glo1 UTSW 17 30,816,835 (GRCm39) missense possibly damaging 0.95
Posted On 2013-12-03