Incidental Mutation 'R0024:Gstt4'
ID |
177910 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gstt4
|
Ensembl Gene |
ENSMUSG00000009093 |
Gene Name |
glutathione S-transferase, theta 4 |
Synonyms |
4930583C14Rik |
MMRRC Submission |
038319-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.342)
|
Stock # |
R0024 (G1)
|
Quality Score |
32 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
75650777-75658377 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 75653038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 175
(M175L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125604
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159241]
[ENSMUST00000160211]
|
AlphaFold |
Q9D4P7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000159241
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160211
AA Change: M175L
PolyPhen 2
Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000125604 Gene: ENSMUSG00000009093 AA Change: M175L
Domain | Start | End | E-Value | Type |
Pfam:GST_N
|
1 |
76 |
1.9e-11 |
PFAM |
Pfam:GST_N_3
|
5 |
82 |
5.7e-12 |
PFAM |
Pfam:GST_C
|
104 |
197 |
8.1e-7 |
PFAM |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
98% (47/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
T |
7: 120,032,608 (GRCm39) |
D209V |
probably damaging |
Het |
Abtb3 |
A |
G |
10: 85,223,311 (GRCm39) |
D40G |
unknown |
Het |
Bbx |
T |
A |
16: 50,045,281 (GRCm39) |
M427L |
probably benign |
Het |
Camk2d |
A |
G |
3: 126,591,372 (GRCm39) |
M281V |
probably benign |
Het |
Chdh |
G |
A |
14: 29,753,553 (GRCm39) |
R154H |
possibly damaging |
Het |
Emid1 |
A |
T |
11: 5,093,869 (GRCm39) |
W93R |
probably damaging |
Het |
Grid2ip |
T |
A |
5: 143,376,796 (GRCm39) |
S947T |
probably damaging |
Het |
Hectd4 |
C |
T |
5: 121,446,639 (GRCm39) |
T242I |
possibly damaging |
Het |
Hfm1 |
T |
C |
5: 107,004,790 (GRCm39) |
K1179E |
probably benign |
Het |
Kif13b |
A |
G |
14: 64,987,722 (GRCm39) |
I750V |
probably benign |
Het |
Krt34 |
A |
T |
11: 99,931,863 (GRCm39) |
C119S |
probably benign |
Het |
Krt6a |
A |
G |
15: 101,599,150 (GRCm39) |
|
probably benign |
Het |
Myof |
G |
T |
19: 37,904,188 (GRCm39) |
T4N |
probably damaging |
Het |
Or2r3 |
A |
G |
6: 42,448,194 (GRCm39) |
M306T |
probably benign |
Het |
P3h3 |
T |
C |
6: 124,834,421 (GRCm39) |
Q77R |
probably benign |
Het |
Picalm |
T |
C |
7: 89,779,912 (GRCm39) |
|
probably null |
Het |
Plcb1 |
A |
G |
2: 135,204,345 (GRCm39) |
S900G |
probably benign |
Het |
Prkd2 |
T |
C |
7: 16,581,568 (GRCm39) |
L141P |
probably damaging |
Het |
Prpf31 |
C |
A |
7: 3,639,658 (GRCm39) |
|
probably null |
Het |
Rgs5 |
T |
A |
1: 169,504,461 (GRCm39) |
V37D |
probably damaging |
Het |
Slc24a2 |
T |
C |
4: 86,946,477 (GRCm39) |
|
probably benign |
Het |
Ssh2 |
A |
T |
11: 77,345,792 (GRCm39) |
Q1259L |
possibly damaging |
Het |
Sugct |
G |
A |
13: 17,032,454 (GRCm39) |
H433Y |
probably benign |
Het |
Sycp2l |
A |
G |
13: 41,295,264 (GRCm39) |
I310M |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,281,755 (GRCm39) |
V3301A |
probably benign |
Het |
|
Other mutations in Gstt4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02380:Gstt4
|
APN |
10 |
75,653,073 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02833:Gstt4
|
APN |
10 |
75,658,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R0732:Gstt4
|
UTSW |
10 |
75,653,155 (GRCm39) |
missense |
probably benign |
0.00 |
R0733:Gstt4
|
UTSW |
10 |
75,653,148 (GRCm39) |
missense |
probably benign |
|
R1297:Gstt4
|
UTSW |
10 |
75,653,133 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2198:Gstt4
|
UTSW |
10 |
75,658,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R2511:Gstt4
|
UTSW |
10 |
75,650,959 (GRCm39) |
missense |
probably benign |
0.05 |
R6572:Gstt4
|
UTSW |
10 |
75,650,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R8101:Gstt4
|
UTSW |
10 |
75,654,348 (GRCm39) |
missense |
probably benign |
0.03 |
R9224:Gstt4
|
UTSW |
10 |
75,651,046 (GRCm39) |
missense |
probably damaging |
0.99 |
R9457:Gstt4
|
UTSW |
10 |
75,650,959 (GRCm39) |
missense |
probably benign |
0.05 |
R9695:Gstt4
|
UTSW |
10 |
75,657,072 (GRCm39) |
missense |
probably benign |
0.06 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCCAGAAACTATGATAGCCTTTCAAGA -3'
(R):5'- GTGAGGAGGTTCCCACTGAGAGAT -3'
Sequencing Primer
(F):5'- gggaagcagaggcaagaag -3'
(R):5'- GGTTCCCACTGAGAGATTAGAG -3'
|
Posted On |
2014-04-30 |