Incidental Mutation 'R1270:Glrx3'
ID |
151276 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Glrx3
|
Ensembl Gene |
ENSMUSG00000031068 |
Gene Name |
glutaredoxin 3 |
Synonyms |
PICOT, Txnl2, PKC interacting cousin of thioredoxin |
MMRRC Submission |
039336-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1270 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
137039343-137070323 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 137055143 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 95
(N95S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147803
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064404]
[ENSMUST00000209696]
[ENSMUST00000211496]
[ENSMUST00000211769]
|
AlphaFold |
Q9CQM9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064404
AA Change: N95S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000066621 Gene: ENSMUSG00000031068 AA Change: N95S
Domain | Start | End | E-Value | Type |
Pfam:Phosducin
|
6 |
102 |
6.3e-10 |
PFAM |
Pfam:DIM1
|
13 |
112 |
4.5e-9 |
PFAM |
Pfam:Thioredoxin
|
15 |
117 |
1.2e-21 |
PFAM |
Pfam:Glutaredoxin
|
148 |
212 |
2.9e-19 |
PFAM |
Pfam:Glutaredoxin
|
250 |
314 |
1.5e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209696
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211496
AA Change: N95S
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211769
|
Meta Mutation Damage Score |
0.0641 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
Validation Efficiency |
97% (36/37) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glutaredoxin family. Glutaredoxins are oxidoreductase enzymes that reduce a variety of substrates using glutathione as a cofactor. The encoded protein binds to and modulates the function of protein kinase C theta. The encoded protein may also inhibit apoptosis and play a role in cellular growth, and the expression of this gene may be a marker for cancer. Pseudogenes of this gene are located on the short arm of chromosomes 6 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010] PHENOTYPE: Mice homozygous for a gene trapped allele exhibit lethality during late organogenesis and early fetal development. Mice heterozygous for this gene trapped allele exhibit increased response to cardiac injury and decreased cardiac muscle contractility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
C |
T |
11: 94,248,210 (GRCm39) |
R1129Q |
probably damaging |
Het |
Adam7 |
T |
A |
14: 68,765,118 (GRCm39) |
K93M |
probably damaging |
Het |
Aldh1a2 |
T |
G |
9: 71,188,988 (GRCm39) |
L301V |
probably benign |
Het |
Alg9 |
A |
G |
9: 50,698,872 (GRCm39) |
|
probably benign |
Het |
Aspg |
C |
T |
12: 112,082,881 (GRCm39) |
T187I |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 37,006,333 (GRCm39) |
H1662Q |
probably damaging |
Het |
C4a |
A |
G |
17: 35,033,505 (GRCm39) |
|
noncoding transcript |
Het |
Cdh2 |
T |
G |
18: 16,760,614 (GRCm39) |
|
probably benign |
Het |
Ceacam1 |
T |
C |
7: 25,165,739 (GRCm39) |
|
probably null |
Het |
Cep250 |
G |
A |
2: 155,832,601 (GRCm39) |
V1509I |
probably benign |
Het |
D130043K22Rik |
T |
C |
13: 25,041,321 (GRCm39) |
S248P |
probably benign |
Het |
Dgkd |
A |
T |
1: 87,861,847 (GRCm39) |
M801L |
probably damaging |
Het |
Edc4 |
A |
G |
8: 106,617,896 (GRCm39) |
E1152G |
possibly damaging |
Het |
Enkd1 |
A |
G |
8: 106,430,533 (GRCm39) |
I334T |
probably damaging |
Het |
Gli3 |
C |
T |
13: 15,898,329 (GRCm39) |
A803V |
probably benign |
Het |
Ints2 |
C |
T |
11: 86,123,911 (GRCm39) |
G626R |
probably damaging |
Het |
Kank2 |
A |
T |
9: 21,684,056 (GRCm39) |
N724K |
probably damaging |
Het |
Kctd20 |
A |
G |
17: 29,185,905 (GRCm39) |
D416G |
possibly damaging |
Het |
Lmtk3 |
A |
G |
7: 45,443,252 (GRCm39) |
E645G |
probably damaging |
Het |
Mrgpra9 |
A |
T |
7: 46,902,531 (GRCm39) |
|
probably null |
Het |
Muc1 |
T |
A |
3: 89,139,414 (GRCm39) |
Y605N |
probably damaging |
Het |
Or4a47 |
C |
T |
2: 89,665,666 (GRCm39) |
V208M |
possibly damaging |
Het |
Or8g17 |
A |
C |
9: 38,930,543 (GRCm39) |
I98R |
possibly damaging |
Het |
Prx |
T |
A |
7: 27,218,355 (GRCm39) |
I952N |
probably damaging |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,799,856 (GRCm39) |
Y90* |
probably null |
Het |
Swt1 |
A |
T |
1: 151,260,142 (GRCm39) |
N752K |
probably benign |
Het |
Taar1 |
T |
C |
10: 23,796,431 (GRCm39) |
V43A |
probably damaging |
Het |
Tenm2 |
T |
C |
11: 35,932,486 (GRCm39) |
N1702D |
probably damaging |
Het |
Tff2 |
C |
T |
17: 31,363,143 (GRCm39) |
|
probably null |
Het |
Trim2 |
G |
A |
3: 84,074,984 (GRCm39) |
A686V |
probably damaging |
Het |
Ube2q2l |
A |
T |
6: 136,378,785 (GRCm39) |
I15N |
probably damaging |
Het |
|
Other mutations in Glrx3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00678:Glrx3
|
APN |
7 |
137,054,442 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02435:Glrx3
|
APN |
7 |
137,063,125 (GRCm39) |
missense |
possibly damaging |
0.61 |
F5770:Glrx3
|
UTSW |
7 |
137,060,882 (GRCm39) |
missense |
probably benign |
|
R0347:Glrx3
|
UTSW |
7 |
137,039,430 (GRCm39) |
missense |
unknown |
|
R0359:Glrx3
|
UTSW |
7 |
137,055,214 (GRCm39) |
missense |
possibly damaging |
0.80 |
R3692:Glrx3
|
UTSW |
7 |
137,060,846 (GRCm39) |
splice site |
probably benign |
|
R4909:Glrx3
|
UTSW |
7 |
137,046,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R4920:Glrx3
|
UTSW |
7 |
137,065,859 (GRCm39) |
missense |
probably null |
1.00 |
R5509:Glrx3
|
UTSW |
7 |
137,046,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R6831:Glrx3
|
UTSW |
7 |
137,060,951 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7200:Glrx3
|
UTSW |
7 |
137,066,165 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7347:Glrx3
|
UTSW |
7 |
137,061,015 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7356:Glrx3
|
UTSW |
7 |
137,054,453 (GRCm39) |
missense |
probably damaging |
0.98 |
R7481:Glrx3
|
UTSW |
7 |
137,046,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R7660:Glrx3
|
UTSW |
7 |
137,060,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R7685:Glrx3
|
UTSW |
7 |
137,060,920 (GRCm39) |
missense |
probably damaging |
0.98 |
R8147:Glrx3
|
UTSW |
7 |
137,064,736 (GRCm39) |
missense |
probably benign |
0.00 |
R9627:Glrx3
|
UTSW |
7 |
137,046,755 (GRCm39) |
missense |
probably benign |
0.00 |
V7581:Glrx3
|
UTSW |
7 |
137,060,882 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGCACCCACGGGTATTATTACCAC -3'
(R):5'- CATCAGGATCGGCTTCTTACCACAG -3'
Sequencing Primer
(F):5'- GGTCTATTCAAGCTGCGATTAC -3'
(R):5'- ACCACAGCGTGGTTCTTG -3'
|
Posted On |
2014-01-29 |