Incidental Mutation 'R5791:Gstm2'
| ID |
501516 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gstm2
|
| Ensembl Gene |
ENSMUSG00000040562 |
| Gene Name |
glutathione S-transferase, mu 2 |
| Synonyms |
Gstb-2, Gstb2 |
| MMRRC Submission |
043207-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R5791 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
107889018-107893736 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 107891444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066675
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012348]
[ENSMUST00000012348]
[ENSMUST00000066530]
|
| AlphaFold |
P15626 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000012348
|
| SMART Domains |
Protein: ENSMUSP00000012348
Gene: ENSMUSG00000040562
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
3 |
82 |
2.9e-24 |
PFAM |
|
Pfam:GST_C_3
|
41 |
190 |
1.2e-10 |
PFAM |
|
Pfam:GST_C
|
104 |
191 |
5.7e-20 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000012348
|
| SMART Domains |
Protein: ENSMUSP00000012348
Gene: ENSMUSG00000040562
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
3 |
82 |
2.9e-24 |
PFAM |
|
Pfam:GST_C_3
|
41 |
190 |
1.2e-10 |
PFAM |
|
Pfam:GST_C
|
104 |
191 |
5.7e-20 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000066530
|
| SMART Domains |
Protein: ENSMUSP00000066675
Gene: ENSMUSG00000040562
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
1 |
48 |
6.8e-12 |
PFAM |
|
Pfam:GST_C
|
70 |
158 |
8.4e-20 |
PFAM |
|
Pfam:GST_C_3
|
84 |
156 |
1.7e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138778
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140420
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150808
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Null mutations of this class mu gene have been linked with an increase in a number of cancers, likely due to an increased susceptibility to environmental toxins and carcinogens. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
G |
C |
8: 41,207,257 (GRCm39) |
Q174H |
probably benign |
Het |
| Adipor2 |
A |
T |
6: 119,338,866 (GRCm39) |
M129K |
possibly damaging |
Het |
| Arhgap29 |
T |
A |
3: 121,807,894 (GRCm39) |
M616K |
probably damaging |
Het |
| Calcrl |
A |
T |
2: 84,181,609 (GRCm39) |
F180I |
probably damaging |
Het |
| Cdh4 |
T |
C |
2: 179,537,560 (GRCm39) |
V864A |
probably damaging |
Het |
| Cep78 |
A |
G |
19: 15,938,436 (GRCm39) |
F504S |
probably benign |
Het |
| Coasy |
A |
G |
11: 100,975,211 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,530,696 (GRCm39) |
N751S |
probably benign |
Het |
| Ecpas |
C |
T |
4: 58,814,027 (GRCm39) |
E1360K |
possibly damaging |
Het |
| Ecpas |
T |
A |
4: 58,822,111 (GRCm39) |
D1152V |
probably damaging |
Het |
| Eea1 |
T |
A |
10: 95,855,857 (GRCm39) |
N631K |
probably benign |
Het |
| Fam149b |
A |
G |
14: 20,401,394 (GRCm39) |
K27R |
probably damaging |
Het |
| Fbxw26 |
A |
G |
9: 109,574,221 (GRCm39) |
W42R |
probably damaging |
Het |
| Gas6 |
A |
G |
8: 13,520,217 (GRCm39) |
|
probably null |
Het |
| Gfral |
C |
T |
9: 76,104,328 (GRCm39) |
R228Q |
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gmppa |
T |
C |
1: 75,418,899 (GRCm39) |
V324A |
possibly damaging |
Het |
| Kcng3 |
A |
G |
17: 83,895,639 (GRCm39) |
S276P |
probably benign |
Het |
| Lrrd1 |
T |
C |
5: 3,901,254 (GRCm39) |
S520P |
probably benign |
Het |
| Lrrn2 |
A |
G |
1: 132,865,505 (GRCm39) |
N190S |
probably benign |
Het |
| Lrwd1 |
G |
C |
5: 136,159,887 (GRCm39) |
A392G |
probably benign |
Het |
| Mab21l2 |
A |
G |
3: 86,454,044 (GRCm39) |
Y319H |
probably damaging |
Het |
| Ndufv3 |
A |
G |
17: 31,746,382 (GRCm39) |
N91D |
probably benign |
Het |
| Nfatc2 |
T |
A |
2: 168,378,313 (GRCm39) |
M451L |
probably benign |
Het |
| Or10g9b |
A |
T |
9: 39,918,030 (GRCm39) |
S72T |
probably damaging |
Het |
| Pcdhgb2 |
G |
T |
18: 37,825,393 (GRCm39) |
V795F |
possibly damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,099,430 (GRCm39) |
M843K |
possibly damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,073,617 (GRCm39) |
N221K |
probably benign |
Het |
| Ppox |
T |
C |
1: 171,104,885 (GRCm39) |
Y422C |
probably damaging |
Het |
| Retreg3 |
A |
G |
11: 100,991,769 (GRCm39) |
S55P |
probably damaging |
Het |
| Rnf103 |
C |
A |
6: 71,485,909 (GRCm39) |
T180K |
probably damaging |
Het |
| Tbl3 |
A |
T |
17: 24,923,408 (GRCm39) |
L307H |
probably damaging |
Het |
| Tex26 |
A |
T |
5: 149,363,240 (GRCm39) |
|
probably null |
Het |
| Tln2 |
A |
T |
9: 67,293,887 (GRCm39) |
I247K |
probably damaging |
Het |
| Txlnb |
T |
C |
10: 17,674,876 (GRCm39) |
S10P |
probably benign |
Het |
| Vwde |
C |
A |
6: 13,195,985 (GRCm39) |
E347* |
probably null |
Het |
| Wasf1 |
G |
A |
10: 40,802,570 (GRCm39) |
R75Q |
probably damaging |
Het |
| Zfp14 |
A |
G |
7: 29,737,687 (GRCm39) |
S433P |
probably damaging |
Het |
| Zfp647 |
G |
T |
15: 76,802,206 (GRCm39) |
A2E |
unknown |
Het |
|
| Other mutations in Gstm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01506:Gstm2
|
APN |
3 |
107,892,559 (GRCm39) |
splice site |
probably null |
|
|
IGL01821:Gstm2
|
APN |
3 |
107,892,369 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02662:Gstm2
|
APN |
3 |
107,892,378 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02667:Gstm2
|
APN |
3 |
107,893,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03088:Gstm2
|
APN |
3 |
107,893,362 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03341:Gstm2
|
APN |
3 |
107,891,521 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0415:Gstm2
|
UTSW |
3 |
107,891,322 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1239:Gstm2
|
UTSW |
3 |
107,891,344 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2213:Gstm2
|
UTSW |
3 |
107,893,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2437:Gstm2
|
UTSW |
3 |
107,891,369 (GRCm39) |
splice site |
probably benign |
|
|
R3765:Gstm2
|
UTSW |
3 |
107,891,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4402:Gstm2
|
UTSW |
3 |
107,893,370 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4805:Gstm2
|
UTSW |
3 |
107,892,411 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6918:Gstm2
|
UTSW |
3 |
107,892,557 (GRCm39) |
splice site |
probably null |
|
|
R7669:Gstm2
|
UTSW |
3 |
107,892,992 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8224:Gstm2
|
UTSW |
3 |
107,891,314 (GRCm39) |
missense |
probably benign |
|
|
R8463:Gstm2
|
UTSW |
3 |
107,893,672 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8918:Gstm2
|
UTSW |
3 |
107,892,382 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCGACCCATGAAGTCCTTC -3'
(R):5'- CCCTGACTGAATCTCATGTAGGTG -3'
Sequencing Primer
(F):5'- CTTCAGGTTTGGGAAGGCATC -3'
(R):5'- GACTGAATCTCATGTAGGTGACTTC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation