Incidental Mutation 'R0095:Gstm7'
| ID |
17965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gstm7
|
| Ensembl Gene |
ENSMUSG00000004035 |
| Gene Name |
glutathione S-transferase, mu 7 |
| Synonyms |
Cd203c, 0610005A07Rik |
| MMRRC Submission |
038381-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
R0095 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107833650-107839133 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 107837879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004137]
[ENSMUST00000106687]
[ENSMUST00000106688]
[ENSMUST00000124215]
[ENSMUST00000133947]
|
| AlphaFold |
Q80W21 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004137
|
| SMART Domains |
Protein: ENSMUSP00000004137
Gene: ENSMUSG00000004035
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
3 |
82 |
2.2e-23 |
PFAM |
|
Pfam:GST_C_3
|
42 |
190 |
1.2e-9 |
PFAM |
|
Pfam:GST_C
|
104 |
191 |
5.3e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106687
|
| SMART Domains |
Protein: ENSMUSP00000102298
Gene: ENSMUSG00000004035
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
3 |
82 |
6.8e-24 |
PFAM |
|
Pfam:GST_N_3
|
11 |
93 |
1.1e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106688
|
| SMART Domains |
Protein: ENSMUSP00000102299
Gene: ENSMUSG00000004035
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N_3
|
4 |
89 |
8.8e-7 |
PFAM |
|
Pfam:GST_N
|
5 |
78 |
4.2e-19 |
PFAM |
|
Pfam:GST_C
|
100 |
188 |
5.6e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124215
|
| SMART Domains |
Protein: ENSMUSP00000118707
Gene: ENSMUSG00000004035
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
1 |
72 |
8.6e-20 |
PFAM |
|
Pfam:GST_N_3
|
3 |
83 |
4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133947
|
| SMART Domains |
Protein: ENSMUSP00000122567
Gene: ENSMUSG00000004035
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:GST_N
|
45 |
123 |
2.6e-19 |
PFAM |
|
Pfam:GST_N_3
|
54 |
134 |
1.4e-6 |
PFAM |
|
| Coding Region Coverage |
- 1x: 88.6%
- 3x: 85.1%
- 10x: 74.3%
- 20x: 56.3%
|
| Validation Efficiency |
88% (50/57) |
| 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. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adhfe1 |
T |
C |
1: 9,630,402 (GRCm39) |
I317T |
possibly damaging |
Het |
| Aldh3a2 |
C |
T |
11: 61,141,774 (GRCm39) |
G21D |
probably damaging |
Het |
| Alms1 |
C |
A |
6: 85,597,235 (GRCm39) |
T1156N |
possibly damaging |
Het |
| Anxa8 |
G |
A |
14: 33,808,028 (GRCm39) |
A6T |
probably benign |
Het |
| Arhgef4 |
C |
T |
1: 34,771,451 (GRCm39) |
Q86* |
probably null |
Het |
| Atp4a |
T |
A |
7: 30,420,160 (GRCm39) |
I769N |
probably damaging |
Het |
| Cacnb2 |
G |
T |
2: 14,963,586 (GRCm39) |
V61F |
probably damaging |
Het |
| Clcf1 |
T |
G |
19: 4,265,842 (GRCm39) |
|
probably benign |
Het |
| Cmah |
G |
T |
13: 24,620,668 (GRCm39) |
A301S |
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,952,555 (GRCm39) |
W448R |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,283,065 (GRCm39) |
D630E |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,501,788 (GRCm39) |
Y1434N |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,748,679 (GRCm39) |
D137G |
probably damaging |
Het |
| Fer |
A |
T |
17: 64,248,321 (GRCm39) |
E361V |
possibly damaging |
Het |
| Foxp2 |
C |
A |
6: 15,196,976 (GRCm39) |
A6E |
probably damaging |
Het |
| Gpr3 |
T |
A |
4: 132,938,597 (GRCm39) |
D25V |
probably benign |
Het |
| Gys1 |
T |
C |
7: 45,094,073 (GRCm39) |
V332A |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,238,617 (GRCm39) |
Y521* |
probably null |
Het |
| Itk |
T |
C |
11: 46,233,279 (GRCm39) |
D266G |
probably damaging |
Het |
| Kdm1a |
C |
T |
4: 136,278,205 (GRCm39) |
R839H |
probably benign |
Het |
| Lypla1 |
T |
C |
1: 4,900,550 (GRCm39) |
|
probably benign |
Het |
| Mmp1a |
G |
A |
9: 7,465,621 (GRCm39) |
G186D |
possibly damaging |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Necab1 |
T |
A |
4: 14,960,027 (GRCm39) |
N307Y |
possibly damaging |
Het |
| Or5p81 |
A |
C |
7: 108,267,252 (GRCm39) |
I210L |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,474,323 (GRCm39) |
F84L |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,049,534 (GRCm39) |
S562P |
probably benign |
Het |
| Rfx8 |
C |
T |
1: 39,724,696 (GRCm39) |
V222M |
possibly damaging |
Het |
| Rpap3 |
A |
G |
15: 97,578,417 (GRCm39) |
|
probably benign |
Het |
| Rpl6 |
T |
G |
5: 121,343,902 (GRCm39) |
V115G |
possibly damaging |
Het |
| Sec16a |
A |
T |
2: 26,315,772 (GRCm39) |
|
probably null |
Het |
| Sema3d |
T |
C |
5: 12,613,314 (GRCm39) |
Y464H |
probably damaging |
Het |
| Sgo2a |
T |
A |
1: 58,054,714 (GRCm39) |
N299K |
probably benign |
Het |
| Tecrl |
T |
C |
5: 83,442,417 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,320,969 (GRCm39) |
T1569A |
probably damaging |
Het |
| U2surp |
T |
C |
9: 95,382,737 (GRCm39) |
|
probably null |
Het |
| Unc45a |
T |
C |
7: 79,979,291 (GRCm39) |
D567G |
probably damaging |
Het |
| Zfp532 |
A |
G |
18: 65,757,855 (GRCm39) |
Y596C |
probably damaging |
Het |
|
| Other mutations in Gstm7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02215:Gstm7
|
APN |
3 |
107,837,594 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
PIT4142001:Gstm7
|
UTSW |
3 |
107,838,799 (GRCm39) |
frame shift |
probably null |
|
|
R0961:Gstm7
|
UTSW |
3 |
107,834,302 (GRCm39) |
unclassified |
probably benign |
|
|
R1052:Gstm7
|
UTSW |
3 |
107,834,266 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2121:Gstm7
|
UTSW |
3 |
107,834,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4610:Gstm7
|
UTSW |
3 |
107,834,235 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5966:Gstm7
|
UTSW |
3 |
107,838,747 (GRCm39) |
intron |
probably benign |
|
|
R6393:Gstm7
|
UTSW |
3 |
107,838,142 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7014:Gstm7
|
UTSW |
3 |
107,834,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7052:Gstm7
|
UTSW |
3 |
107,838,633 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7741:Gstm7
|
UTSW |
3 |
107,838,963 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7848:Gstm7
|
UTSW |
3 |
107,835,902 (GRCm39) |
splice site |
probably null |
|
|
R7988:Gstm7
|
UTSW |
3 |
107,834,271 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7998:Gstm7
|
UTSW |
3 |
107,837,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8952:Gstm7
|
UTSW |
3 |
107,838,757 (GRCm39) |
intron |
probably benign |
|
|
| Posted On |
2013-03-25 |
Incidental Mutation