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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |