Incidental Mutation 'R8256:Gstm4'
| ID |
640548 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gstm4
|
| Ensembl Gene |
ENSMUSG00000027890 |
| Gene Name |
glutathione S-transferase, mu 4 |
| Synonyms |
Gstb-4, Gstb4, 1110004G14Rik |
| MMRRC Submission |
067682-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8256 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107947724-107952210 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 107951667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029489
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029489]
[ENSMUST00000106670]
[ENSMUST00000178808]
|
| AlphaFold |
Q8R5I6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029489
|
| SMART Domains |
Protein: ENSMUSP00000029489
Gene: ENSMUSG00000027890
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
3 |
82 |
1.9e-25 |
PFAM |
|
Pfam:GST_N_3
|
13 |
93 |
1.4e-7 |
PFAM |
|
Pfam:GST_C_3
|
42 |
190 |
7.2e-10 |
PFAM |
|
Pfam:GST_C
|
104 |
192 |
1.9e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106670
|
| SMART Domains |
Protein: ENSMUSP00000102281
Gene: ENSMUSG00000027890
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
1 |
48 |
7e-12 |
PFAM |
|
Pfam:GST_C
|
70 |
158 |
1.3e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178808
|
| SMART Domains |
Protein: ENSMUSP00000136643
Gene: ENSMUSG00000027890
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
1 |
48 |
7e-12 |
PFAM |
|
Pfam:GST_C
|
70 |
158 |
1.3e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (41/41) |
| 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. Multiple transcript variants, each encoding a distinct protein isoform, have been identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
T |
16: 30,958,287 (GRCm39) |
|
probably null |
Het |
| Acsbg1 |
A |
T |
9: 54,525,345 (GRCm39) |
M402K |
probably damaging |
Het |
| Adamts2 |
T |
C |
11: 50,683,583 (GRCm39) |
V955A |
probably benign |
Het |
| Adcy2 |
C |
T |
13: 68,768,880 (GRCm39) |
E1083K |
probably damaging |
Het |
| Adgrb2 |
G |
A |
4: 129,901,921 (GRCm39) |
A484T |
probably damaging |
Het |
| Adgrv1 |
G |
T |
13: 81,727,679 (GRCm39) |
D320E |
probably damaging |
Het |
| Arf4 |
T |
C |
14: 26,377,126 (GRCm39) |
S178P |
probably benign |
Het |
| Atg9a |
G |
A |
1: 75,163,563 (GRCm39) |
T179I |
possibly damaging |
Het |
| Atp13a2 |
A |
C |
4: 140,722,922 (GRCm39) |
Q225P |
possibly damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,158,236 (GRCm39) |
T1105A |
unknown |
Het |
| Bltp2 |
T |
A |
11: 78,167,979 (GRCm39) |
D1471E |
probably benign |
Het |
| Ccdc68 |
G |
T |
18: 70,072,018 (GRCm39) |
E32* |
probably null |
Het |
| Chd9 |
T |
C |
8: 91,660,129 (GRCm39) |
V363A |
unknown |
Het |
| Cmya5 |
C |
T |
13: 93,229,986 (GRCm39) |
E1701K |
possibly damaging |
Het |
| Def8 |
T |
C |
8: 124,186,368 (GRCm39) |
F369S |
probably damaging |
Het |
| Dhx8 |
C |
T |
11: 101,631,588 (GRCm39) |
P394S |
possibly damaging |
Het |
| Fbxo3 |
A |
G |
2: 103,864,008 (GRCm39) |
R88G |
probably damaging |
Het |
| Hira |
A |
G |
16: 18,744,443 (GRCm39) |
T387A |
probably benign |
Het |
| Hspbap1 |
A |
G |
16: 35,590,879 (GRCm39) |
T12A |
probably benign |
Het |
| Lipi |
G |
A |
16: 75,370,950 (GRCm39) |
A89V |
probably benign |
Het |
| Lsamp |
A |
T |
16: 41,965,007 (GRCm39) |
Y305F |
probably damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,622,236 (GRCm39) |
|
probably benign |
Het |
| Mphosph9 |
C |
T |
5: 124,393,169 (GRCm39) |
D1116N |
probably damaging |
Het |
| Mylip |
T |
C |
13: 45,561,833 (GRCm39) |
C277R |
probably damaging |
Het |
| Mylk4 |
T |
C |
13: 32,904,522 (GRCm39) |
D204G |
probably damaging |
Het |
| Ncf2 |
G |
A |
1: 152,692,851 (GRCm39) |
|
probably null |
Het |
| Or2n1e |
T |
G |
17: 38,586,411 (GRCm39) |
L250V |
probably damaging |
Het |
| Plekhg3 |
T |
C |
12: 76,609,041 (GRCm39) |
L138P |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,578,255 (GRCm39) |
R172G |
probably benign |
Het |
| Ptk6 |
T |
A |
2: 180,837,633 (GRCm39) |
K429* |
probably null |
Het |
| Rasgrp4 |
T |
C |
7: 28,842,500 (GRCm39) |
V258A |
probably damaging |
Het |
| Rp1l1 |
T |
C |
14: 64,265,602 (GRCm39) |
L396S |
probably benign |
Het |
| Samd8 |
A |
T |
14: 21,833,745 (GRCm39) |
|
probably null |
Het |
| Spock1 |
T |
A |
13: 57,588,257 (GRCm39) |
I269F |
probably damaging |
Het |
| Tap2 |
A |
G |
17: 34,435,006 (GRCm39) |
D683G |
probably benign |
Het |
| Terb1 |
T |
C |
8: 105,199,579 (GRCm39) |
D455G |
possibly damaging |
Het |
| Tnfaip8l3 |
A |
G |
9: 53,934,528 (GRCm39) |
V149A |
probably benign |
Het |
| Ubr7 |
T |
A |
12: 102,736,170 (GRCm39) |
M364K |
probably damaging |
Het |
| Vmn1r121 |
T |
G |
7: 20,831,679 (GRCm39) |
N254H |
probably benign |
Het |
| Zfp804a |
A |
G |
2: 81,884,193 (GRCm39) |
N20S |
probably damaging |
Het |
| Zhx1 |
T |
C |
15: 57,916,359 (GRCm39) |
K629R |
probably benign |
Het |
|
| Other mutations in Gstm4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03032:Gstm4
|
APN |
3 |
107,951,263 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0533:Gstm4
|
UTSW |
3 |
107,950,841 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1799:Gstm4
|
UTSW |
3 |
107,950,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1907:Gstm4
|
UTSW |
3 |
107,948,593 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4413:Gstm4
|
UTSW |
3 |
107,950,644 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4451:Gstm4
|
UTSW |
3 |
107,951,291 (GRCm39) |
splice site |
probably null |
|
|
R6009:Gstm4
|
UTSW |
3 |
107,950,659 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6992:Gstm4
|
UTSW |
3 |
107,951,981 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7347:Gstm4
|
UTSW |
3 |
107,949,689 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7909:Gstm4
|
UTSW |
3 |
107,950,732 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7922:Gstm4
|
UTSW |
3 |
107,951,987 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R7968:Gstm4
|
UTSW |
3 |
107,951,677 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9186:Gstm4
|
UTSW |
3 |
107,952,049 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCAACAGGAGGGGTATCCACC -3'
(R):5'- AGGAATCCCTTGCTTGTCTGG -3'
Sequencing Primer
(F):5'- ACCCCTTCACTTCCAGGAGG -3'
(R):5'- TCAGGGTCTTGCACACATG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation