Incidental Mutation 'R4427:Gsto2'
| ID |
328255 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gsto2
|
| Ensembl Gene |
ENSMUSG00000025069 |
| Gene Name |
glutathione S-transferase omega 2 |
| Synonyms |
4930425C18Rik, 1700020F09Rik |
| MMRRC Submission |
041145-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4427 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
47853973-47874763 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47860212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 2
(S2P)
|
| 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: S2P
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000052592
Gene: ENSMUSG00000025069
AA Change: S2P
| 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: S2P
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113409
Gene: ENSMUSG00000025069
AA Change: S2P
| 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 |
possibly damaging
Transcript: ENSMUST00000135016
AA Change: S2P
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119680
Gene: ENSMUSG00000025069
AA Change: S2P
| 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 |
0.1070 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
96% (48/50) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
T |
7: 29,278,678 (GRCm39) |
|
noncoding transcript |
Het |
| A2ml1 |
T |
C |
6: 128,522,009 (GRCm39) |
E1271G |
probably benign |
Het |
| Ccdc88b |
C |
T |
19: 6,827,940 (GRCm39) |
E878K |
probably damaging |
Het |
| Cfap119 |
A |
G |
7: 127,187,288 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,363,562 (GRCm39) |
K2441E |
probably damaging |
Het |
| Cryga |
A |
T |
1: 65,139,775 (GRCm39) |
I121N |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,220,541 (GRCm39) |
Q2115L |
probably benign |
Het |
| Evi2 |
T |
A |
11: 79,407,182 (GRCm39) |
Q131L |
possibly damaging |
Het |
| Exoc1 |
A |
G |
5: 76,711,110 (GRCm39) |
I61V |
probably benign |
Het |
| Firrm |
A |
G |
1: 163,781,853 (GRCm39) |
V858A |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,446,583 (GRCm39) |
|
probably null |
Het |
| Gas2l1 |
A |
G |
11: 5,013,908 (GRCm39) |
V184A |
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,403,287 (GRCm39) |
L4402P |
probably damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,216,896 (GRCm39) |
I200N |
probably damaging |
Het |
| Klhl30 |
A |
G |
1: 91,281,426 (GRCm39) |
D9G |
probably damaging |
Het |
| Ltf |
C |
A |
9: 110,852,672 (GRCm39) |
T178K |
probably damaging |
Het |
| Memo1 |
T |
A |
17: 74,509,302 (GRCm39) |
Y239F |
probably benign |
Het |
| Ogdh |
C |
T |
11: 6,305,421 (GRCm39) |
T972I |
probably benign |
Het |
| Phactr4 |
T |
C |
4: 132,114,352 (GRCm39) |
D24G |
possibly damaging |
Het |
| Pi4ka |
C |
T |
16: 17,098,908 (GRCm39) |
R1992H |
probably damaging |
Het |
| Poc1b |
T |
C |
10: 98,991,001 (GRCm39) |
|
probably null |
Het |
| Ppp1r9b |
A |
T |
11: 94,892,150 (GRCm39) |
R188S |
possibly damaging |
Het |
| Pwwp2a |
T |
C |
11: 43,573,344 (GRCm39) |
V142A |
possibly damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Rcsd1 |
C |
A |
1: 165,483,464 (GRCm39) |
V206L |
probably damaging |
Het |
| Rps6ka2 |
T |
A |
17: 7,566,804 (GRCm39) |
D687E |
possibly damaging |
Het |
| Sgce |
G |
A |
6: 4,691,459 (GRCm39) |
A295V |
probably damaging |
Het |
| Siglec15 |
T |
G |
18: 78,086,836 (GRCm39) |
E341A |
possibly damaging |
Het |
| Tcaim |
T |
C |
9: 122,643,561 (GRCm39) |
F87S |
probably benign |
Het |
| Thbs2 |
C |
A |
17: 14,900,597 (GRCm39) |
V537L |
probably benign |
Het |
| Timd6 |
T |
A |
11: 46,475,247 (GRCm39) |
F147L |
probably benign |
Het |
| Tmx3 |
T |
A |
18: 90,541,725 (GRCm39) |
V158D |
probably damaging |
Het |
| Tpm1 |
A |
G |
9: 66,939,847 (GRCm39) |
|
probably benign |
Het |
| Trmt2a |
A |
G |
16: 18,067,093 (GRCm39) |
|
probably benign |
Het |
| Ugcg |
T |
A |
4: 59,219,555 (GRCm39) |
F297L |
probably benign |
Het |
| Utp18 |
T |
C |
11: 93,757,264 (GRCm39) |
N467D |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,506,981 (GRCm39) |
F777S |
probably damaging |
Het |
| Vwc2 |
A |
G |
11: 11,104,235 (GRCm39) |
T256A |
probably damaging |
Het |
| Zfp300 |
C |
T |
X: 20,949,405 (GRCm39) |
V120I |
possibly damaging |
Het |
| Zfp982 |
A |
T |
4: 147,597,080 (GRCm39) |
R146* |
probably null |
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 |
|
|
R4297:Gsto2
|
UTSW |
19 |
47,864,935 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
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'- CATATCTGGGGCGGTATCTG -3'
(R):5'- GAGAGTCTGGTTAGCCCATTGG -3'
Sequencing Primer
(F):5'- ATCTGTGAGGGGCTAGGTTATACAG -3'
(R):5'- TGTTCTCCTCAAGGACATTCAAGGAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation