Incidental Mutation 'R0319:Mgst1'
| ID |
25549 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mgst1
|
| Ensembl Gene |
ENSMUSG00000008540 |
| Gene Name |
microsomal glutathione S-transferase 1 |
| Synonyms |
1500002K10Rik |
| MMRRC Submission |
038529-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R0319 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
138117525-138133753 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138133155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 157
(I157V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008684]
[ENSMUST00000118091]
[ENSMUST00000120230]
[ENSMUST00000120302]
[ENSMUST00000120939]
[ENSMUST00000140932]
[ENSMUST00000204628]
|
| AlphaFold |
Q91VS7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000008684
AA Change: I83V
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000008684
Gene: ENSMUSG00000008540
AA Change: I83V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAPEG
|
16 |
150 |
9.2e-27 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118091
AA Change: I157V
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112923
Gene: ENSMUSG00000008540
AA Change: I157V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAPEG
|
90 |
224 |
1.9e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120230
AA Change: I83V
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113859
Gene: ENSMUSG00000008540
AA Change: I83V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAPEG
|
16 |
150 |
9.2e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120302
AA Change: I83V
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113257
Gene: ENSMUSG00000008540
AA Change: I83V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAPEG
|
16 |
150 |
9.2e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120939
|
| SMART Domains |
Protein: ENSMUSP00000112646
Gene: ENSMUSG00000008540
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2H8A|A
|
2 |
74 |
1e-45 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140932
|
| SMART Domains |
Protein: ENSMUSP00000145306
Gene: ENSMUSG00000008540
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAPEG
|
1 |
46 |
2.9e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204628
|
| Meta Mutation Damage Score |
0.2843 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 95.0%
- 20x: 89.1%
|
| Validation Efficiency |
100% (58/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, two of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. Other family members, demonstrating glutathione S-transferase and peroxidase activities, are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. This gene encodes a protein that catalyzes the conjugation of glutathione to electrophiles and the reduction of lipid hydroperoxides. This protein is localized to the endoplasmic reticulum and outer mitochondrial membrane where it is thought to protect these membranes from oxidative stress. Several transcript variants, some non-protein coding and some protein coding, have been found for this gene. [provided by RefSeq, May 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130023H24Rik |
A |
C |
7: 127,836,362 (GRCm39) |
V77G |
probably benign |
Het |
| Abcb1b |
A |
G |
5: 8,877,428 (GRCm39) |
R663G |
probably benign |
Het |
| Acly |
A |
G |
11: 100,395,808 (GRCm39) |
V404A |
probably damaging |
Het |
| Actg2 |
T |
A |
6: 83,497,725 (GRCm39) |
I103F |
probably damaging |
Het |
| Anapc5 |
A |
G |
5: 122,956,919 (GRCm39) |
V120A |
probably damaging |
Het |
| Ankk1 |
T |
G |
9: 49,327,371 (GRCm39) |
T603P |
probably damaging |
Het |
| Ankmy2 |
T |
C |
12: 36,215,898 (GRCm39) |
S33P |
possibly damaging |
Het |
| Arhgef19 |
A |
T |
4: 140,983,710 (GRCm39) |
T748S |
possibly damaging |
Het |
| Atad5 |
T |
A |
11: 80,011,616 (GRCm39) |
|
probably benign |
Het |
| Atxn10 |
T |
C |
15: 85,249,483 (GRCm39) |
L105P |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 135,998,455 (GRCm39) |
V161A |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,735,426 (GRCm39) |
E741G |
possibly damaging |
Het |
| Cpne9 |
G |
A |
6: 113,271,654 (GRCm39) |
G338E |
probably damaging |
Het |
| Cyp3a13 |
G |
A |
5: 137,897,124 (GRCm39) |
P397S |
probably damaging |
Het |
| Dbn1 |
C |
T |
13: 55,622,729 (GRCm39) |
E585K |
probably damaging |
Het |
| Draxin |
A |
G |
4: 148,200,429 (GRCm39) |
L7P |
probably benign |
Het |
| Exosc7 |
T |
A |
9: 122,960,025 (GRCm39) |
|
probably benign |
Het |
| Far2 |
A |
G |
6: 148,058,968 (GRCm39) |
E218G |
probably damaging |
Het |
| Ggps1 |
A |
C |
13: 14,228,462 (GRCm39) |
N240K |
possibly damaging |
Het |
| Kcnip1 |
T |
C |
11: 33,601,529 (GRCm39) |
|
probably benign |
Het |
| Kcnv2 |
A |
T |
19: 27,301,424 (GRCm39) |
Y425F |
probably benign |
Het |
| Kdelr2 |
T |
A |
5: 143,398,272 (GRCm39) |
F40I |
probably damaging |
Het |
| Kdm1b |
C |
T |
13: 47,207,195 (GRCm39) |
P173L |
probably benign |
Het |
| Kif20b |
G |
A |
19: 34,925,132 (GRCm39) |
|
probably benign |
Het |
| Klhl9 |
A |
T |
4: 88,638,691 (GRCm39) |
Y517N |
possibly damaging |
Het |
| Lgals3bp |
A |
G |
11: 118,284,347 (GRCm39) |
S411P |
probably damaging |
Het |
| Lmo3 |
G |
A |
6: 138,354,309 (GRCm39) |
T85M |
probably damaging |
Het |
| Lvrn |
C |
A |
18: 46,997,820 (GRCm39) |
T256N |
probably damaging |
Het |
| Malt1 |
T |
C |
18: 65,595,986 (GRCm39) |
|
probably null |
Het |
| Mob3a |
A |
T |
10: 80,525,819 (GRCm39) |
V164E |
possibly damaging |
Het |
| Mprip |
T |
A |
11: 59,587,864 (GRCm39) |
|
probably benign |
Het |
| Mst1 |
A |
G |
9: 107,959,712 (GRCm39) |
N276S |
probably benign |
Het |
| Or5an1b |
A |
T |
19: 12,299,680 (GRCm39) |
C170* |
probably null |
Het |
| P3h2 |
T |
A |
16: 25,789,681 (GRCm39) |
I529F |
possibly damaging |
Het |
| Pikfyve |
T |
A |
1: 65,285,490 (GRCm39) |
S865T |
probably benign |
Het |
| Rcbtb2 |
G |
A |
14: 73,415,909 (GRCm39) |
R474Q |
probably benign |
Het |
| Rpl27 |
G |
A |
11: 101,334,321 (GRCm39) |
|
probably benign |
Het |
| Rtp1 |
G |
A |
16: 23,250,210 (GRCm39) |
E192K |
probably damaging |
Het |
| Sgk2 |
T |
C |
2: 162,837,592 (GRCm39) |
|
probably benign |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc49a4 |
T |
C |
16: 35,570,884 (GRCm39) |
D140G |
probably benign |
Het |
| Spdl1 |
T |
C |
11: 34,714,347 (GRCm39) |
N114S |
possibly damaging |
Het |
| Syne2 |
C |
T |
12: 76,110,936 (GRCm39) |
R5756W |
probably damaging |
Het |
| Tor1aip1 |
T |
C |
1: 155,882,927 (GRCm39) |
E307G |
probably damaging |
Het |
| Tpd52 |
T |
C |
3: 9,018,749 (GRCm39) |
T44A |
probably benign |
Het |
| Trim67 |
A |
T |
8: 125,549,966 (GRCm39) |
Y532F |
probably damaging |
Het |
| Ttll9 |
C |
A |
2: 152,842,018 (GRCm39) |
|
probably null |
Het |
| Ush2a |
T |
C |
1: 188,680,571 (GRCm39) |
|
probably benign |
Het |
| Vcam1 |
T |
C |
3: 115,909,709 (GRCm39) |
I539M |
probably benign |
Het |
| Vmn1r19 |
T |
A |
6: 57,381,600 (GRCm39) |
M51K |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,949,941 (GRCm39) |
M787K |
probably damaging |
Het |
| Xdh |
T |
A |
17: 74,213,096 (GRCm39) |
|
probably benign |
Het |
| Zfp109 |
A |
T |
7: 23,933,895 (GRCm39) |
V8E |
probably damaging |
Het |
| Zfp595 |
G |
A |
13: 67,464,577 (GRCm39) |
A562V |
possibly damaging |
Het |
| Zfp759 |
A |
G |
13: 67,288,356 (GRCm39) |
T636A |
probably benign |
Het |
|
| Other mutations in Mgst1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02135:Mgst1
|
APN |
6 |
138,124,766 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0613:Mgst1
|
UTSW |
6 |
138,133,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0634:Mgst1
|
UTSW |
6 |
138,133,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0730:Mgst1
|
UTSW |
6 |
138,124,667 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0862:Mgst1
|
UTSW |
6 |
138,124,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4447:Mgst1
|
UTSW |
6 |
138,118,662 (GRCm39) |
intron |
probably benign |
|
|
R4569:Mgst1
|
UTSW |
6 |
138,133,213 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4644:Mgst1
|
UTSW |
6 |
138,133,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4701:Mgst1
|
UTSW |
6 |
138,127,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4930:Mgst1
|
UTSW |
6 |
138,130,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5688:Mgst1
|
UTSW |
6 |
138,118,798 (GRCm39) |
intron |
probably benign |
|
|
R6307:Mgst1
|
UTSW |
6 |
138,127,827 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6468:Mgst1
|
UTSW |
6 |
138,118,585 (GRCm39) |
splice site |
probably null |
|
|
R6697:Mgst1
|
UTSW |
6 |
138,124,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6741:Mgst1
|
UTSW |
6 |
138,127,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6755:Mgst1
|
UTSW |
6 |
138,124,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6791:Mgst1
|
UTSW |
6 |
138,118,805 (GRCm39) |
intron |
probably benign |
|
|
R7295:Mgst1
|
UTSW |
6 |
138,124,754 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7440:Mgst1
|
UTSW |
6 |
138,127,842 (GRCm39) |
missense |
probably benign |
|
|
R7532:Mgst1
|
UTSW |
6 |
138,130,504 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8486:Mgst1
|
UTSW |
6 |
138,120,026 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8954:Mgst1
|
UTSW |
6 |
138,119,967 (GRCm39) |
intron |
probably benign |
|
|
R9326:Mgst1
|
UTSW |
6 |
138,120,023 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9784:Mgst1
|
UTSW |
6 |
138,124,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGGATTCACACCTGAAATCAGAGC -3'
(R):5'- GCAGCCTGTAAGCCATTGACAAAG -3'
Sequencing Primer
(F):5'- ttgtaggcagcaaaggagag -3'
(R):5'- TGTAAGCCATTGACAAAGTAACTCC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation