Incidental Mutation 'R1180:Gstm1'
| ID |
101460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gstm1
|
| Ensembl Gene |
ENSMUSG00000058135 |
| Gene Name |
glutathione S-transferase, mu 1 |
| Synonyms |
Gstb1, Gstb-1 |
| MMRRC Submission |
039252-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R1180 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107919571-107925289 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107922127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 170
(F170S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004140]
[ENSMUST00000126593]
[ENSMUST00000153314]
|
| AlphaFold |
P10649 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004140
AA Change: F170S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004140
Gene: ENSMUSG00000058135
AA Change: F170S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
3 |
82 |
1.3e-20 |
PFAM |
|
Pfam:GST_C_3
|
40 |
190 |
5.2e-11 |
PFAM |
|
Pfam:GST_C
|
104 |
192 |
3.7e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126593
AA Change: F196S
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118874
Gene: ENSMUSG00000058135
AA Change: F196S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
3 |
82 |
8.3e-24 |
PFAM |
|
Pfam:GST_C
|
104 |
201 |
6.7e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138374
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153314
AA Change: F146S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123481
Gene: ENSMUSG00000058135
AA Change: F146S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
1 |
23 |
1.7e-7 |
PFAM |
|
Pfam:GST_C
|
45 |
168 |
1.2e-18 |
PFAM |
|
Pfam:GST_C_3
|
92 |
166 |
8.3e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198532
|
| Meta Mutation Damage Score |
0.8794 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.5%
- 20x: 87.5%
|
| Validation Efficiency |
98% (55/56) |
| 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. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for the deletion of this gene display a reduced ability to metabolize 1,2-dichloro-4-nitrobenzene. Mice homozygous for a different knock-out allele exhibit abnormal behavior, altered response to valproic acid, and increased serotonin and dopamine levels in the cerebellum. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
A |
7: 41,275,141 (GRCm39) |
D281E |
probably benign |
Het |
| Adam24 |
T |
G |
8: 41,134,467 (GRCm39) |
V645G |
probably damaging |
Het |
| Apcdd1 |
A |
T |
18: 63,070,168 (GRCm39) |
Y145F |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,457,836 (GRCm38) |
|
probably benign |
Het |
| Camk1d |
A |
T |
2: 5,366,836 (GRCm39) |
Y126* |
probably null |
Het |
| Chd8 |
A |
C |
14: 52,458,565 (GRCm39) |
S848A |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,709,577 (GRCm39) |
K1873R |
unknown |
Het |
| Cpd |
T |
C |
11: 76,692,579 (GRCm39) |
T753A |
possibly damaging |
Het |
| Cxcr2 |
A |
T |
1: 74,197,527 (GRCm39) |
D7V |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,690,413 (GRCm39) |
E173G |
possibly damaging |
Het |
| EU599041 |
G |
A |
7: 42,875,731 (GRCm39) |
|
noncoding transcript |
Het |
| Fer1l6 |
G |
A |
15: 58,474,160 (GRCm39) |
|
probably benign |
Het |
| Flt3 |
T |
C |
5: 147,278,048 (GRCm39) |
D842G |
probably damaging |
Het |
| Foxp4 |
G |
C |
17: 48,191,278 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,805,570 (GRCm39) |
Y630H |
probably damaging |
Het |
| Gprin3 |
C |
A |
6: 59,331,921 (GRCm39) |
V129F |
possibly damaging |
Het |
| Hoxa3 |
A |
C |
6: 52,147,382 (GRCm39) |
Y290* |
probably null |
Het |
| Htra4 |
G |
T |
8: 25,523,735 (GRCm39) |
L277I |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,259,899 (GRCm39) |
Y266C |
probably damaging |
Het |
| Kif6 |
T |
A |
17: 50,139,284 (GRCm39) |
|
probably benign |
Het |
| Kiz |
C |
T |
2: 146,811,927 (GRCm39) |
R679C |
unknown |
Het |
| Kyat3 |
A |
C |
3: 142,443,531 (GRCm39) |
|
probably null |
Het |
| Mipep |
G |
A |
14: 61,071,505 (GRCm39) |
V537I |
probably damaging |
Het |
| Mrpl44 |
T |
A |
1: 79,755,677 (GRCm39) |
N94K |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,103,167 (GRCm39) |
T168S |
possibly damaging |
Het |
| Mx2 |
G |
A |
16: 97,357,209 (GRCm39) |
R434H |
probably damaging |
Het |
| Myh6 |
A |
G |
14: 55,181,925 (GRCm39) |
I1792T |
possibly damaging |
Het |
| Myo16 |
T |
C |
8: 10,446,908 (GRCm39) |
S450P |
probably damaging |
Het |
| Nherf4 |
T |
A |
9: 44,160,543 (GRCm39) |
D284V |
probably benign |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Or3a1b |
A |
G |
11: 74,012,406 (GRCm39) |
Y97C |
probably benign |
Het |
| Or5d16 |
G |
A |
2: 87,773,490 (GRCm39) |
L161F |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Pkhd1 |
C |
T |
1: 20,655,381 (GRCm39) |
|
probably null |
Het |
| Psmd8 |
A |
T |
7: 28,874,825 (GRCm39) |
V248E |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,301,285 (GRCm39) |
Y646C |
probably damaging |
Het |
| Samsn1 |
C |
T |
16: 75,670,536 (GRCm39) |
G189E |
probably damaging |
Het |
| Sec61g |
A |
C |
11: 16,454,722 (GRCm39) |
|
probably benign |
Het |
| Sfmbt2 |
C |
T |
2: 10,406,877 (GRCm39) |
H59Y |
probably damaging |
Het |
| Shb |
T |
C |
4: 45,423,996 (GRCm39) |
I486V |
possibly damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Spag16 |
G |
A |
1: 69,962,817 (GRCm39) |
|
probably benign |
Het |
| Spink13 |
A |
G |
18: 62,741,241 (GRCm39) |
|
probably benign |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tk1 |
A |
G |
11: 117,712,921 (GRCm39) |
|
probably null |
Het |
| Tnni3k |
A |
T |
3: 154,581,150 (GRCm39) |
H600Q |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,800,047 (GRCm39) |
I387N |
probably damaging |
Het |
| Ube2q2 |
T |
C |
9: 55,102,700 (GRCm39) |
|
probably benign |
Het |
| Utp14b |
C |
A |
1: 78,643,162 (GRCm39) |
N353K |
probably damaging |
Het |
| Zfp474 |
C |
T |
18: 52,771,814 (GRCm39) |
Q156* |
probably null |
Het |
|
| Other mutations in Gstm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0335:Gstm1
|
UTSW |
3 |
107,920,012 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0458:Gstm1
|
UTSW |
3 |
107,924,679 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0907:Gstm1
|
UTSW |
3 |
107,924,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1069:Gstm1
|
UTSW |
3 |
107,920,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1181:Gstm1
|
UTSW |
3 |
107,922,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1998:Gstm1
|
UTSW |
3 |
107,922,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2000:Gstm1
|
UTSW |
3 |
107,922,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4483:Gstm1
|
UTSW |
3 |
107,923,834 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4857:Gstm1
|
UTSW |
3 |
107,923,724 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5192:Gstm1
|
UTSW |
3 |
107,922,259 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5262:Gstm1
|
UTSW |
3 |
107,923,679 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5356:Gstm1
|
UTSW |
3 |
107,920,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5485:Gstm1
|
UTSW |
3 |
107,924,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6323:Gstm1
|
UTSW |
3 |
107,925,063 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7165:Gstm1
|
UTSW |
3 |
107,923,693 (GRCm39) |
missense |
probably benign |
|
|
R7250:Gstm1
|
UTSW |
3 |
107,923,709 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7638:Gstm1
|
UTSW |
3 |
107,921,866 (GRCm39) |
splice site |
probably null |
|
|
R9656:Gstm1
|
UTSW |
3 |
107,925,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9797:Gstm1
|
UTSW |
3 |
107,925,080 (GRCm39) |
missense |
probably benign |
0.10 |
|
X0023:Gstm1
|
UTSW |
3 |
107,920,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAAACAGGAGAATGAGGTTGTGC -3'
(R):5'- TTGCTGGGGAGCCTGAGTCTAAAG -3'
Sequencing Primer
(F):5'- ggactcagaatcgcatcaatc -3'
(R):5'- GAGTTCTTGAAGACCATCCCTGAG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation