Incidental Mutation 'R6593:Gstm3'
| ID |
523457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gstm3
|
| Ensembl Gene |
ENSMUSG00000004038 |
| Gene Name |
glutathione S-transferase, mu 3 |
| Synonyms |
mGSTM5, Fsc2 |
| MMRRC Submission |
044717-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R6593 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
107871019-107876484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107875511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 40
(N40Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004136]
|
| AlphaFold |
P19639 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004136
AA Change: N40Y
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000004136
Gene: ENSMUSG00000004038
AA Change: N40Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GST_N
|
3 |
82 |
6.6e-22 |
PFAM |
|
Pfam:GST_C_3
|
41 |
190 |
7.7e-11 |
PFAM |
|
Pfam:GST_C
|
104 |
191 |
1.6e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 96.6%
- 20x: 89.6%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
C |
A |
5: 8,903,491 (GRCm39) |
N1047K |
probably benign |
Het |
| AI597479 |
C |
A |
1: 43,150,408 (GRCm39) |
Q173K |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,012,522 (GRCm39) |
L282P |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,012,564 (GRCm39) |
I296T |
possibly damaging |
Het |
| Atg2b |
A |
G |
12: 105,611,107 (GRCm39) |
S1275P |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,344,638 (GRCm39) |
M485T |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,514,338 (GRCm39) |
|
probably null |
Het |
| Clcn6 |
C |
T |
4: 148,095,226 (GRCm39) |
S731N |
probably benign |
Het |
| Clic6 |
A |
G |
16: 92,325,005 (GRCm39) |
I388V |
possibly damaging |
Het |
| Cpsf4l |
G |
T |
11: 113,600,192 (GRCm39) |
|
probably benign |
Het |
| Dlg5 |
G |
A |
14: 24,200,720 (GRCm39) |
H1350Y |
probably benign |
Het |
| Dnase2b |
T |
C |
3: 146,292,666 (GRCm39) |
Y169C |
probably damaging |
Het |
| Elavl3 |
C |
T |
9: 21,929,843 (GRCm39) |
V354M |
possibly damaging |
Het |
| Farp2 |
A |
C |
1: 93,497,662 (GRCm39) |
I231L |
possibly damaging |
Het |
| Gcc2 |
T |
A |
10: 58,107,329 (GRCm39) |
M755K |
probably damaging |
Het |
| Gpr88 |
T |
C |
3: 116,046,273 (GRCm39) |
T13A |
unknown |
Het |
| Krtap5-2 |
A |
T |
7: 141,728,697 (GRCm39) |
C328S |
unknown |
Het |
| Lpar1 |
A |
T |
4: 58,486,605 (GRCm39) |
V222E |
probably damaging |
Het |
| Neto2 |
A |
G |
8: 86,396,175 (GRCm39) |
S192P |
probably damaging |
Het |
| Odad1 |
T |
A |
7: 45,596,808 (GRCm39) |
D378E |
probably damaging |
Het |
| Or52n3 |
C |
T |
7: 104,530,640 (GRCm39) |
T242I |
probably damaging |
Het |
| Pcdhgb1 |
G |
T |
18: 37,815,134 (GRCm39) |
D542Y |
probably damaging |
Het |
| Phldb2 |
G |
A |
16: 45,645,790 (GRCm39) |
Q264* |
probably null |
Het |
| Ptgs2 |
G |
A |
1: 149,976,784 (GRCm39) |
D6N |
possibly damaging |
Het |
| Rasef |
G |
T |
4: 73,663,327 (GRCm39) |
H167N |
probably damaging |
Het |
| Rbbp4 |
A |
G |
4: 129,216,168 (GRCm39) |
L193S |
probably damaging |
Het |
| Rigi |
T |
C |
4: 40,226,651 (GRCm39) |
I169V |
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,147,061 (GRCm39) |
F673S |
probably damaging |
Het |
| Slc9b1 |
T |
C |
3: 135,063,219 (GRCm39) |
M1T |
probably null |
Het |
| Stra6 |
A |
G |
9: 58,059,262 (GRCm39) |
T542A |
probably benign |
Het |
| Stt3b |
T |
C |
9: 115,081,579 (GRCm39) |
Y569C |
probably damaging |
Het |
| Traf3ip1 |
A |
G |
1: 91,455,417 (GRCm39) |
K626R |
possibly damaging |
Het |
| Washc2 |
T |
A |
6: 116,236,210 (GRCm39) |
I1227N |
probably damaging |
Het |
| Xpo7 |
G |
A |
14: 70,919,802 (GRCm39) |
A671V |
probably damaging |
Het |
| Zfp799 |
A |
G |
17: 33,038,764 (GRCm39) |
Y501H |
probably damaging |
Het |
|
| Other mutations in Gstm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01585:Gstm3
|
APN |
3 |
107,873,474 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL01637:Gstm3
|
APN |
3 |
107,874,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01937:Gstm3
|
APN |
3 |
107,874,973 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01945:Gstm3
|
APN |
3 |
107,874,973 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02307:Gstm3
|
APN |
3 |
107,874,929 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02820:Gstm3
|
APN |
3 |
107,876,074 (GRCm39) |
splice site |
probably benign |
|
|
IGL03038:Gstm3
|
APN |
3 |
107,873,485 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL03108:Gstm3
|
APN |
3 |
107,875,080 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03271:Gstm3
|
APN |
3 |
107,873,513 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL03097:Gstm3
|
UTSW |
3 |
107,876,117 (GRCm39) |
missense |
probably benign |
|
|
R0009:Gstm3
|
UTSW |
3 |
107,875,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Gstm3
|
UTSW |
3 |
107,873,586 (GRCm39) |
splice site |
probably benign |
|
|
R1623:Gstm3
|
UTSW |
3 |
107,875,151 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2108:Gstm3
|
UTSW |
3 |
107,873,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3005:Gstm3
|
UTSW |
3 |
107,874,923 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3802:Gstm3
|
UTSW |
3 |
107,871,551 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3803:Gstm3
|
UTSW |
3 |
107,871,551 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3804:Gstm3
|
UTSW |
3 |
107,871,551 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4604:Gstm3
|
UTSW |
3 |
107,875,513 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4837:Gstm3
|
UTSW |
3 |
107,871,531 (GRCm39) |
missense |
probably benign |
|
|
R6963:Gstm3
|
UTSW |
3 |
107,874,940 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7790:Gstm3
|
UTSW |
3 |
107,876,555 (GRCm39) |
start gained |
probably benign |
|
|
R9245:Gstm3
|
UTSW |
3 |
107,874,956 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9465:Gstm3
|
UTSW |
3 |
107,873,431 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9753:Gstm3
|
UTSW |
3 |
107,875,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACACTGTGCAGCCAACAGG -3'
(R):5'- TAATGAGACTGGAGTTCCGGG -3'
Sequencing Primer
(F):5'- GCCAACAGGGATGGAGC -3'
(R):5'- CGGGCCCACCTGTATTTATAATTGAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation