Incidental Mutation 'IGL01524:Glo1'
ID89506
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glo1
Ensembl Gene ENSMUSG00000024026
Gene Nameglyoxalase 1
SynonymsQglo, Glo-1s, 2510049H23Rik, 0610009E22Rik, Glo1-s, 1110008E19Rik, Glo-1, Glo-1r, Glo1-r
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01524
Quality Score
Status
Chromosome17
Chromosomal Location30592866-30612659 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 30596419 bp
ZygosityHeterozygous
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]
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
4932438A13Rik A G 3: 36,942,382 D1081G possibly damaging Het
Aadat A T 8: 60,516,072 D117V probably damaging Het
Abca14 T C 7: 120,253,421 Y870H possibly damaging Het
Ankrd36 T C 11: 5,635,092 I301T probably benign Het
Atp10b T A 11: 43,259,845 S1457T probably benign Het
Ccdc175 G A 12: 72,131,142 probably benign Het
Ccdc93 A G 1: 121,461,899 K224E probably benign Het
Cep131 C T 11: 120,065,960 A886T probably damaging Het
Clip1 A C 5: 123,579,379 H1282Q probably damaging Het
Ctcfl T G 2: 173,117,384 D183A probably benign Het
Cyp17a1 C T 19: 46,671,056 V112I probably benign Het
D3Ertd254e T C 3: 36,164,580 Y251H possibly damaging Het
Fhod3 T C 18: 25,130,602 I1521T probably damaging Het
Gipc2 A G 3: 152,137,577 I141T probably damaging Het
Ipmk C A 10: 71,372,801 A140E probably damaging Het
Kynu A G 2: 43,671,382 D310G possibly damaging Het
Myo1f T A 17: 33,579,883 I174N probably damaging Het
Nat10 T A 2: 103,757,757 N8Y probably damaging Het
Nhlrc2 A G 19: 56,576,155 I304V probably benign Het
Pdk4 T C 6: 5,491,979 H31R probably damaging Het
Sema6d T C 2: 124,664,075 V644A possibly damaging Het
Slc30a4 T A 2: 122,702,388 K11N possibly damaging Het
Slc6a3 T C 13: 73,538,549 S12P probably benign Het
Spats2 C T 15: 99,212,246 A508V probably benign Het
Tinag A G 9: 77,045,538 Y55H probably damaging Het
Topbp1 T C 9: 103,311,645 I172T possibly damaging Het
Trim17 A G 11: 58,970,597 T279A probably damaging Het
Vmn1r216 C A 13: 23,099,349 N67K probably benign Het
Washc4 T C 10: 83,576,132 L709P probably benign Het
Xdh T C 17: 73,923,137 probably null Het
Zfhx4 C T 3: 5,243,976 P754L probably damaging Het
Zfp623 C A 15: 75,947,679 S161R probably benign Het
Zmat3 G A 3: 32,341,678 R227C possibly damaging Het
Other mutations in Glo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0067:Glo1 UTSW 17 30594271 intron probably null
R0963:Glo1 UTSW 17 30600111 missense probably benign
R1901:Glo1 UTSW 17 30596408 missense probably benign
R2113:Glo1 UTSW 17 30604040 nonsense probably null
R5283:Glo1 UTSW 17 30600073 missense probably benign
R6737:Glo1 UTSW 17 30597840 missense probably benign
R7201:Glo1 UTSW 17 30597854 missense probably benign
Posted On2013-12-03