Incidental Mutation 'R1343:Gsto2'
| ID |
156445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsto2
|
| Ensembl Gene |
ENSMUSG00000025069 |
| Gene Name |
glutathione S-transferase omega 2 |
| Synonyms |
4930425C18Rik, 1700020F09Rik |
| MMRRC Submission |
039408-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1343 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
47853973-47874763 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 47873146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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: I174F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052592
Gene: ENSMUSG00000025069
AA Change: I174F
| 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: I174F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113409
Gene: ENSMUSG00000025069
AA Change: I174F
| 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 null
Transcript: ENSMUST00000135016
|
| SMART Domains |
Protein: ENSMUSP00000119680
Gene: ENSMUSG00000025069
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankle2 |
T |
C |
5: 110,385,832 (GRCm39) |
V361A |
probably damaging |
Het |
| Art1 |
A |
G |
7: 101,756,160 (GRCm39) |
Y117C |
probably damaging |
Het |
| Cecr2 |
T |
C |
6: 120,731,672 (GRCm39) |
Y215H |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,696,069 (GRCm39) |
E2666G |
unknown |
Het |
| Cps1 |
T |
A |
1: 67,248,768 (GRCm39) |
V1165E |
probably damaging |
Het |
| Gpr65 |
A |
T |
12: 98,241,888 (GRCm39) |
K180N |
probably benign |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Kif19a |
A |
G |
11: 114,676,653 (GRCm39) |
D494G |
probably benign |
Het |
| Lnx1 |
T |
C |
5: 74,758,040 (GRCm39) |
R695G |
probably damaging |
Het |
| Lonp1 |
A |
G |
17: 56,927,272 (GRCm39) |
L327P |
probably damaging |
Het |
| Nat8 |
T |
C |
6: 85,807,603 (GRCm39) |
T177A |
probably damaging |
Het |
| Nek1 |
T |
A |
8: 61,481,709 (GRCm39) |
M208K |
probably damaging |
Het |
| Obsl1 |
G |
T |
1: 75,469,223 (GRCm39) |
H1239Q |
probably damaging |
Het |
| Or52n2b |
A |
G |
7: 104,565,834 (GRCm39) |
I223T |
probably damaging |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Prmt3 |
C |
T |
7: 49,467,856 (GRCm39) |
S354L |
probably benign |
Het |
| Ralgapa1 |
T |
A |
12: 55,754,763 (GRCm39) |
H1176L |
probably damaging |
Het |
| Serpinb9h |
G |
A |
13: 33,588,468 (GRCm39) |
C351Y |
possibly damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Strc |
T |
C |
2: 121,195,596 (GRCm39) |
S1618G |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,080,417 (GRCm39) |
S4784P |
probably damaging |
Het |
| Usp14 |
T |
C |
18: 10,016,623 (GRCm39) |
T73A |
probably benign |
Het |
| Vmn2r53 |
G |
A |
7: 12,318,701 (GRCm39) |
P458L |
probably benign |
Het |
| Zfp292 |
T |
C |
4: 34,805,238 (GRCm39) |
D2602G |
probably damaging |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCCGTGTCAGGCTAAGGGAAG -3'
(R):5'- ACAGTGGTCTCTGAAGCATGGTGG -3'
Sequencing Primer
(F):5'- GCCAtgtttttttttgttttgttttg -3'
(R):5'- TATTTGGACACGGAACCATGC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation