Incidental Mutation 'R4297:Gsto2'
| ID |
371090 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsto2
|
| Ensembl Gene |
ENSMUSG00000025069 |
| Gene Name |
glutathione S-transferase omega 2 |
| Synonyms |
4930425C18Rik, 1700020F09Rik |
| MMRRC Submission |
041085-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4297 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
47853973-47874763 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 47864935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 156
(E156A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113409
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056159]
[ENSMUST00000120645]
[ENSMUST00000135016]
|
| AlphaFold |
Q8K2Q2 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000026048
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056159
AA Change: E156A
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000052592
Gene: ENSMUSG00000025069
AA Change: E156A
| 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 |
possibly damaging
Transcript: ENSMUST00000120645
AA Change: E156A
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113409
Gene: ENSMUSG00000025069
AA Change: E156A
| 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 benign
Transcript: ENSMUST00000135016
AA Change: E156A
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000119680
Gene: ENSMUSG00000025069
AA Change: E156A
| 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 |
|
| Meta Mutation Damage Score |
0.2184 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
85% (33/39) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,258,154 (GRCm39) |
|
probably null |
Het |
| Alkbh3 |
C |
T |
2: 93,838,469 (GRCm39) |
R34H |
probably benign |
Het |
| Cacna1e |
T |
G |
1: 154,274,477 (GRCm39) |
S2143R |
probably benign |
Het |
| Camkk2 |
A |
G |
5: 122,883,769 (GRCm39) |
|
probably null |
Het |
| Cep295 |
A |
G |
9: 15,233,950 (GRCm39) |
V2282A |
probably benign |
Het |
| Cfap46 |
A |
C |
7: 139,232,589 (GRCm39) |
D827E |
probably benign |
Het |
| Col5a1 |
T |
C |
2: 27,907,216 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
T |
A |
1: 90,739,100 (GRCm39) |
E376V |
probably damaging |
Het |
| Creld2 |
T |
C |
15: 88,707,956 (GRCm39) |
C232R |
probably damaging |
Het |
| Ctdp1 |
A |
T |
18: 80,493,172 (GRCm39) |
V441E |
probably benign |
Het |
| Cyp2a4 |
A |
G |
7: 26,006,793 (GRCm39) |
T51A |
probably damaging |
Het |
| Dgke |
A |
T |
11: 88,941,556 (GRCm39) |
V273D |
probably damaging |
Het |
| Epcam |
T |
C |
17: 87,947,962 (GRCm39) |
|
probably null |
Het |
| Fpr-rs3 |
A |
T |
17: 20,845,008 (GRCm39) |
N44K |
probably damaging |
Het |
| Glipr1l1 |
A |
T |
10: 111,898,252 (GRCm39) |
D119V |
probably benign |
Het |
| Gm6818 |
A |
T |
7: 38,101,877 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
| Hbb-bs |
T |
C |
7: 103,475,951 (GRCm39) |
D122G |
probably benign |
Het |
| Mc5r |
T |
C |
18: 68,472,378 (GRCm39) |
F246L |
probably benign |
Het |
| Ncapd3 |
A |
G |
9: 26,963,623 (GRCm39) |
N492S |
probably benign |
Het |
| Reln |
A |
C |
5: 22,125,485 (GRCm39) |
C2733G |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc6a21 |
G |
A |
7: 44,937,186 (GRCm39) |
V239M |
possibly damaging |
Het |
| St3gal2 |
T |
C |
8: 111,688,991 (GRCm39) |
M177T |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,556,607 (GRCm39) |
G30133C |
probably damaging |
Het |
| Ugt1a8 |
T |
C |
1: 88,015,826 (GRCm39) |
S80P |
probably benign |
Het |
| Vax1 |
G |
T |
19: 59,154,683 (GRCm39) |
S318* |
probably null |
Het |
| Vcam1 |
A |
T |
3: 115,910,892 (GRCm39) |
V502E |
probably benign |
Het |
| Vmn2r12 |
C |
A |
5: 109,239,830 (GRCm39) |
M244I |
probably benign |
Het |
| Vps18 |
T |
A |
2: 119,127,812 (GRCm39) |
C878* |
probably null |
Het |
| Wdr11 |
A |
G |
7: 129,226,910 (GRCm39) |
R791G |
probably benign |
Het |
|
| Other mutations in Gsto2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00161:Gsto2
|
APN |
19 |
47,863,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACTTCAGTCAGAGTGG -3'
(R):5'- TGCCACCATACCAGGAAAGG -3'
Sequencing Primer
(F):5'- CTTCAGTCAGAGTGGGAACAGTTCTC -3'
(R):5'- GGAAAGGACAAATTCACTGCTTGTCC -3'
|
| Posted On |
2016-02-16 |
Incidental Mutation