Incidental Mutation 'R3005:Gstm3'
| ID |
257409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gstm3
|
| Ensembl Gene |
ENSMUSG00000004038 |
| Gene Name |
glutathione S-transferase, mu 3 |
| Synonyms |
mGSTM5, Fsc2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R3005 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
107871019-107876484 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 107874923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 110
(Q110K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004136]
|
| AlphaFold |
P19639 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004136
AA Change: Q110K
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000004136
Gene: ENSMUSG00000004038
AA Change: Q110K
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cep162 |
C |
A |
9: 87,114,113 (GRCm39) |
V320L |
probably benign |
Het |
| Cnga1 |
T |
A |
5: 72,762,450 (GRCm39) |
I355F |
probably damaging |
Het |
| Csnk1e |
T |
C |
15: 79,323,005 (GRCm39) |
I15V |
probably benign |
Het |
| Dele1 |
T |
A |
18: 38,393,012 (GRCm39) |
N405K |
possibly damaging |
Het |
| Exosc8 |
T |
C |
3: 54,639,568 (GRCm39) |
|
probably null |
Het |
| Garre1 |
T |
C |
7: 33,984,209 (GRCm39) |
E138G |
probably damaging |
Het |
| Hace1 |
G |
A |
10: 45,524,959 (GRCm39) |
G242R |
probably damaging |
Het |
| Lcn6 |
T |
A |
2: 25,567,261 (GRCm39) |
|
probably null |
Het |
| Msh6 |
A |
G |
17: 88,295,713 (GRCm39) |
E1088G |
probably benign |
Het |
| Nlrp4c |
G |
A |
7: 6,068,524 (GRCm39) |
V142M |
probably benign |
Het |
| Nup50 |
G |
A |
15: 84,813,661 (GRCm39) |
|
probably null |
Het |
| Or51g2 |
C |
T |
7: 102,622,465 (GRCm39) |
V245I |
possibly damaging |
Het |
| Ppp2r5a |
A |
T |
1: 191,091,173 (GRCm39) |
F218Y |
probably damaging |
Het |
| Ptov1 |
T |
C |
7: 44,513,886 (GRCm39) |
N52S |
probably damaging |
Het |
| Rif1 |
G |
A |
2: 51,972,776 (GRCm39) |
A303T |
probably damaging |
Het |
| Ror1 |
T |
A |
4: 100,298,961 (GRCm39) |
V778E |
probably damaging |
Het |
| Tcaf3 |
A |
T |
6: 42,570,978 (GRCm39) |
L258H |
probably damaging |
Het |
| Utp20 |
C |
A |
10: 88,613,317 (GRCm39) |
K1321N |
probably damaging |
Het |
| Vmn2r54 |
T |
A |
7: 12,349,221 (GRCm39) |
Q787L |
probably benign |
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 |
|
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 |
|
|
R6593:Gstm3
|
UTSW |
3 |
107,875,511 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- CGAAGGTCGTTCTGTTGGTAAGATC -3'
(R):5'- TTGATGGGTCACACAAGGTCAC -3'
Sequencing Primer
(F):5'- TCTGTTGGTAAGATCCGAAAGC -3'
(R):5'- AGAGCAATGCCATCCTGCG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation