Incidental Mutation 'R7546:Gstm5'
| ID |
584206 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gstm5
|
| Ensembl Gene |
ENSMUSG00000004032 |
| Gene Name |
glutathione S-transferase, mu 5 |
| Synonyms |
|
| MMRRC Submission |
045617-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7546 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107803240-107806002 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 107804610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 65
(Y65H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004134
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004134]
[ENSMUST00000037375]
[ENSMUST00000167387]
[ENSMUST00000167523]
[ENSMUST00000169365]
[ENSMUST00000170058]
[ENSMUST00000172247]
|
| AlphaFold |
P48774 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004134
AA Change: Y65H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004134
Gene: ENSMUSG00000004032
AA Change: Y65H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
6 |
85 |
4e-23 |
PFAM |
|
Pfam:GST_C
|
107 |
195 |
1.5e-19 |
PFAM |
|
Pfam:GST_C_3
|
113 |
193 |
2.9e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037375
|
| SMART Domains |
Protein: ENSMUSP00000042004
Gene: ENSMUSG00000040600
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PTB
|
28 |
155 |
3.7e-40 |
PFAM |
|
low complexity region
|
204 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
285 |
N/A |
INTRINSIC |
|
SH3
|
460 |
515 |
5.19e-15 |
SMART |
|
PDB:2E8M|A
|
516 |
582 |
3e-7 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167387
|
| SMART Domains |
Protein: ENSMUSP00000127020
Gene: ENSMUSG00000004032
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_C
|
41 |
129 |
2.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167523
|
| SMART Domains |
Protein: ENSMUSP00000127840
Gene: ENSMUSG00000004032
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
6 |
67 |
6.2e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169365
|
| SMART Domains |
Protein: ENSMUSP00000128306
Gene: ENSMUSG00000004032
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_C
|
41 |
129 |
2.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170058
|
| SMART Domains |
Protein: ENSMUSP00000125913
Gene: ENSMUSG00000004032
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
6 |
55 |
3.4e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172247
AA Change: Y65H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129426
Gene: ENSMUSG00000004032
AA Change: Y65H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
6 |
85 |
2.1e-21 |
PFAM |
|
Pfam:GST_C
|
107 |
193 |
2.2e-18 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (40/40) |
| 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. Mutations of this class mu gene have been linked with a slight increase in a number of cancers, likely due to exposure with environmental toxins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
A |
G |
17: 48,348,330 (GRCm39) |
S36P |
probably benign |
Het |
| A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
| Ampd1 |
A |
G |
3: 103,003,028 (GRCm39) |
T582A |
probably benign |
Het |
| Ank1 |
A |
C |
8: 23,555,011 (GRCm39) |
N57T |
probably damaging |
Het |
| Atxn3 |
A |
G |
12: 101,914,261 (GRCm39) |
|
probably null |
Het |
| Bace2 |
G |
A |
16: 97,200,882 (GRCm39) |
A117T |
probably benign |
Het |
| Bcl2l15 |
A |
G |
3: 103,740,203 (GRCm39) |
N19S |
probably benign |
Het |
| Bid |
C |
A |
6: 120,877,112 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
A |
T |
6: 23,626,607 (GRCm39) |
M227K |
probably benign |
Het |
| Clip4 |
G |
A |
17: 72,135,697 (GRCm39) |
C483Y |
possibly damaging |
Het |
| Dennd4a |
A |
G |
9: 64,780,326 (GRCm39) |
T621A |
probably damaging |
Het |
| E2f3 |
G |
A |
13: 30,094,112 (GRCm39) |
S383L |
probably damaging |
Het |
| F2r |
C |
T |
13: 95,754,858 (GRCm39) |
V9I |
probably benign |
Het |
| Gm14226 |
T |
C |
2: 154,867,131 (GRCm39) |
S363P |
probably damaging |
Het |
| H2bc13 |
A |
G |
13: 21,900,040 (GRCm39) |
S92P |
probably benign |
Het |
| H60c |
A |
G |
10: 3,209,907 (GRCm39) |
W127R |
probably damaging |
Het |
| Itgav |
G |
T |
2: 83,606,894 (GRCm39) |
G448* |
probably null |
Het |
| Klrh1 |
T |
C |
6: 129,749,343 (GRCm39) |
H84R |
probably benign |
Het |
| Lhx6 |
C |
T |
2: 35,993,357 (GRCm39) |
|
probably null |
Het |
| Manba |
T |
A |
3: 135,276,007 (GRCm39) |
V816D |
probably benign |
Het |
| Marchf10 |
G |
A |
11: 105,280,906 (GRCm39) |
P460S |
not run |
Het |
| Mmp17 |
T |
A |
5: 129,673,653 (GRCm39) |
V244E |
probably damaging |
Het |
| Mtrr |
C |
T |
13: 68,730,268 (GRCm39) |
|
probably benign |
Het |
| Nup160 |
T |
C |
2: 90,515,402 (GRCm39) |
I170T |
probably damaging |
Het |
| Or4c12b |
A |
G |
2: 89,647,363 (GRCm39) |
N225S |
probably benign |
Het |
| Or4c12b |
A |
T |
2: 89,647,538 (GRCm39) |
L283F |
probably damaging |
Het |
| Or51e1 |
T |
C |
7: 102,358,996 (GRCm39) |
S177P |
probably damaging |
Het |
| Pappa |
G |
A |
4: 65,074,352 (GRCm39) |
S302N |
possibly damaging |
Het |
| Plekhj1 |
G |
A |
10: 80,633,748 (GRCm39) |
A53V |
possibly damaging |
Het |
| Pramel46 |
T |
A |
5: 95,418,171 (GRCm39) |
H275L |
possibly damaging |
Het |
| Pramel48 |
C |
T |
5: 95,630,539 (GRCm39) |
R139C |
probably benign |
Het |
| Prpf8 |
T |
C |
11: 75,399,200 (GRCm39) |
V2157A |
probably damaging |
Het |
| Rps8 |
G |
A |
4: 117,011,104 (GRCm39) |
R200W |
probably damaging |
Het |
| Sesn2 |
A |
G |
4: 132,227,154 (GRCm39) |
F93L |
probably damaging |
Het |
| Skic3 |
C |
A |
13: 76,282,954 (GRCm39) |
L759M |
probably damaging |
Het |
| Slf1 |
A |
G |
13: 77,197,311 (GRCm39) |
S768P |
probably benign |
Het |
| Stat4 |
A |
G |
1: 52,137,622 (GRCm39) |
N471S |
probably damaging |
Het |
| Trcg1 |
T |
C |
9: 57,155,621 (GRCm39) |
L758P |
probably benign |
Het |
| Trim35 |
A |
G |
14: 66,540,696 (GRCm39) |
T183A |
probably benign |
Het |
| Ttr |
C |
A |
18: 20,803,102 (GRCm39) |
Y89* |
probably null |
Het |
| Zfp90 |
C |
A |
8: 107,151,323 (GRCm39) |
H345Q |
probably benign |
Het |
| Zmym4 |
A |
G |
4: 126,757,961 (GRCm39) |
V1531A |
probably damaging |
Het |
|
| Other mutations in Gstm5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00838:Gstm5
|
APN |
3 |
107,804,874 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02219:Gstm5
|
APN |
3 |
107,805,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0685:Gstm5
|
UTSW |
3 |
107,804,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2364:Gstm5
|
UTSW |
3 |
107,803,687 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3836:Gstm5
|
UTSW |
3 |
107,803,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4600:Gstm5
|
UTSW |
3 |
107,805,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5097:Gstm5
|
UTSW |
3 |
107,803,258 (GRCm39) |
start gained |
probably benign |
|
|
R5369:Gstm5
|
UTSW |
3 |
107,805,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5415:Gstm5
|
UTSW |
3 |
107,804,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5689:Gstm5
|
UTSW |
3 |
107,803,981 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5832:Gstm5
|
UTSW |
3 |
107,804,853 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5988:Gstm5
|
UTSW |
3 |
107,803,270 (GRCm39) |
start codon destroyed |
probably benign |
|
|
R7329:Gstm5
|
UTSW |
3 |
107,803,647 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9222:Gstm5
|
UTSW |
3 |
107,804,634 (GRCm39) |
missense |
probably benign |
0.09 |
|
X0020:Gstm5
|
UTSW |
3 |
107,803,282 (GRCm39) |
missense |
probably benign |
0.27 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACAGGATTAAGCACCCTTGTC -3'
(R):5'- GTCCATGATCTGGTTCTCCATG -3'
Sequencing Primer
(F):5'- TAAGCACCCTTGTCTAGAGTCAGG -3'
(R):5'- TTCAGTGTCACCACCTGCAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation