Incidental Mutation 'IGL00161:Gsto2'
| ID |
688 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gsto2
|
| Ensembl Gene |
ENSMUSG00000025069 |
| Gene Name |
glutathione S-transferase omega 2 |
| Synonyms |
4930425C18Rik, 1700020F09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00161
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
47853973-47874763 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47863406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 94
(D94G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056159]
[ENSMUST00000120645]
[ENSMUST00000135016]
|
| AlphaFold |
Q8K2Q2 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000026048
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056159
AA Change: D94G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052592
Gene: ENSMUSG00000025069
AA Change: D94G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
23 |
95 |
1.7e-9 |
PFAM |
|
Pfam:Glutaredoxin
|
24 |
75 |
1.1e-7 |
PFAM |
|
Pfam:GST_N_3
|
26 |
101 |
1.9e-21 |
PFAM |
|
Pfam:GST_N_2
|
31 |
96 |
3.2e-14 |
PFAM |
|
SCOP:d1eema1
|
104 |
242 |
3e-25 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120645
AA Change: D94G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113409
Gene: ENSMUSG00000025069
AA Change: D94G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
22 |
95 |
3.8e-14 |
PFAM |
|
Pfam:Glutaredoxin
|
24 |
75 |
9e-8 |
PFAM |
|
Pfam:GST_N_3
|
26 |
101 |
6.9e-22 |
PFAM |
|
Pfam:GST_N_2
|
31 |
96 |
1.7e-14 |
PFAM |
|
SCOP:d1eema1
|
104 |
242 |
3e-25 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135016
AA Change: D94G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119680
Gene: ENSMUSG00000025069
AA Change: D94G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
23 |
95 |
3.4e-10 |
PFAM |
|
Pfam:Glutaredoxin
|
24 |
75 |
4.4e-8 |
PFAM |
|
Pfam:GST_N_3
|
26 |
101 |
4.2e-22 |
PFAM |
|
Pfam:GST_N_2
|
31 |
96 |
6e-15 |
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 protein encoded by this gene is an omega class glutathione S-transferase (GST). GSTs are involved in the metabolism of xenobiotics and carcinogens. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
A |
7: 75,375,719 (GRCm39) |
V1932E |
probably damaging |
Het |
| Alg3 |
A |
G |
16: 20,426,608 (GRCm39) |
V211A |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,992,309 (GRCm39) |
T1148A |
probably benign |
Het |
| Dmbt1 |
G |
T |
7: 130,711,357 (GRCm39) |
D1538Y |
probably damaging |
Het |
| Fbxl20 |
C |
T |
11: 97,981,500 (GRCm39) |
G396D |
possibly damaging |
Het |
| Igf2r |
T |
C |
17: 12,932,877 (GRCm39) |
I882V |
probably benign |
Het |
| Ltbp1 |
C |
T |
17: 75,617,147 (GRCm39) |
|
probably benign |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
A |
C |
11: 71,072,007 (GRCm39) |
|
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,377,088 (GRCm39) |
C272* |
probably null |
Het |
| Or4c123 |
A |
G |
2: 89,126,799 (GRCm39) |
C272R |
probably benign |
Het |
| Or8g26 |
A |
G |
9: 39,096,388 (GRCm39) |
K305E |
possibly damaging |
Het |
| Pard3 |
A |
G |
8: 128,086,299 (GRCm39) |
|
probably benign |
Het |
| Pcsk4 |
A |
G |
10: 80,158,657 (GRCm39) |
Y532H |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,879,353 (GRCm39) |
|
probably null |
Het |
| Potefam3e |
T |
C |
8: 19,799,499 (GRCm39) |
|
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,480,321 (GRCm39) |
Y140H |
probably damaging |
Het |
| Ptpdc1 |
C |
T |
13: 48,740,534 (GRCm39) |
R238Q |
possibly damaging |
Het |
| Rdx |
A |
G |
9: 51,997,646 (GRCm39) |
D540G |
probably damaging |
Het |
| Rnase10 |
T |
G |
14: 51,247,238 (GRCm39) |
D168E |
possibly damaging |
Het |
| Slc30a5 |
A |
C |
13: 100,943,174 (GRCm39) |
D561E |
probably damaging |
Het |
| Spag1 |
C |
T |
15: 36,195,562 (GRCm39) |
R252* |
probably null |
Het |
| Spata31g1 |
A |
T |
4: 42,973,982 (GRCm39) |
H1105L |
probably benign |
Het |
| Stox1 |
T |
C |
10: 62,503,692 (GRCm39) |
E121G |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,384,663 (GRCm39) |
M558V |
probably benign |
Het |
| Tenm2 |
C |
T |
11: 36,097,726 (GRCm39) |
|
probably benign |
Het |
| Vmn1r64 |
T |
C |
7: 5,886,827 (GRCm39) |
T239A |
probably damaging |
Het |
|
| Other mutations in Gsto2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02561:Gsto2
|
APN |
19 |
47,874,629 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02820:Gsto2
|
APN |
19 |
47,863,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03141:Gsto2
|
APN |
19 |
47,863,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1343:Gsto2
|
UTSW |
19 |
47,873,146 (GRCm39) |
splice site |
probably null |
|
|
R4297:Gsto2
|
UTSW |
19 |
47,864,935 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4427:Gsto2
|
UTSW |
19 |
47,860,212 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4701:Gsto2
|
UTSW |
19 |
47,873,095 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4762:Gsto2
|
UTSW |
19 |
47,863,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6765:Gsto2
|
UTSW |
19 |
47,860,227 (GRCm39) |
nonsense |
probably null |
|
|
R7903:Gsto2
|
UTSW |
19 |
47,873,096 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8877:Gsto2
|
UTSW |
19 |
47,873,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8939:Gsto2
|
UTSW |
19 |
47,873,203 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9344:Gsto2
|
UTSW |
19 |
47,864,884 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9351:Gsto2
|
UTSW |
19 |
47,874,608 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9477:Gsto2
|
UTSW |
19 |
47,864,911 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0018:Gsto2
|
UTSW |
19 |
47,863,340 (GRCm39) |
missense |
probably benign |
0.12 |
|
X0067:Gsto2
|
UTSW |
19 |
47,874,461 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2011-07-12 |
Incidental Mutation