Incidental Mutation 'R0969:Gpx3'
| ID |
83991 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpx3
|
| Ensembl Gene |
ENSMUSG00000018339 |
| Gene Name |
glutathione peroxidase 3 |
| Synonyms |
extracellular GPx, GPx, EGPx, plasma GPx |
| MMRRC Submission |
039098-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R0969 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
54793680-54801213 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 54799852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018482]
[ENSMUST00000082430]
[ENSMUST00000102730]
[ENSMUST00000102731]
[ENSMUST00000108885]
[ENSMUST00000108886]
[ENSMUST00000108889]
[ENSMUST00000125094]
[ENSMUST00000149324]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018482
|
| SMART Domains |
Protein: ENSMUSP00000018482
Gene: ENSMUSG00000020400
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
42 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
|
coiled coil region
|
215 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
296 |
N/A |
INTRINSIC |
|
SCOP:d1bg1a1
|
342 |
511 |
2e-4 |
SMART |
|
low complexity region
|
519 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
599 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082430
|
| SMART Domains |
Protein: ENSMUSP00000081011
Gene: ENSMUSG00000018339
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:GSHPx
|
40 |
153 |
4.8e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102730
|
| SMART Domains |
Protein: ENSMUSP00000099791
Gene: ENSMUSG00000020400
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
42 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
|
coiled coil region
|
215 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
296 |
N/A |
INTRINSIC |
|
SCOP:d1bg1a1
|
342 |
511 |
3e-4 |
SMART |
|
low complexity region
|
519 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
627 |
640 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102731
|
| SMART Domains |
Protein: ENSMUSP00000099792
Gene: ENSMUSG00000020400
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
42 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
|
coiled coil region
|
215 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
296 |
N/A |
INTRINSIC |
|
SCOP:d1bg1a1
|
342 |
511 |
2e-4 |
SMART |
|
low complexity region
|
519 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
599 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108885
|
| SMART Domains |
Protein: ENSMUSP00000104513
Gene: ENSMUSG00000020400
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
62 |
N/A |
INTRINSIC |
|
coiled coil region
|
162 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
243 |
N/A |
INTRINSIC |
|
SCOP:d1bg1a1
|
289 |
458 |
5e-4 |
SMART |
|
low complexity region
|
466 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
546 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108886
|
| SMART Domains |
Protein: ENSMUSP00000104514
Gene: ENSMUSG00000020400
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
62 |
N/A |
INTRINSIC |
|
coiled coil region
|
162 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
243 |
N/A |
INTRINSIC |
|
SCOP:d1bg1a1
|
289 |
458 |
5e-4 |
SMART |
|
low complexity region
|
466 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
524 |
N/A |
INTRINSIC |
|
low complexity region
|
533 |
546 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108889
|
| SMART Domains |
Protein: ENSMUSP00000104517
Gene: ENSMUSG00000020400
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
42 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
102 |
115 |
N/A |
INTRINSIC |
|
coiled coil region
|
215 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
296 |
N/A |
INTRINSIC |
|
SCOP:d1bg1a1
|
342 |
511 |
2e-4 |
SMART |
|
low complexity region
|
519 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
599 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125094
|
| SMART Domains |
Protein: ENSMUSP00000119165
Gene: ENSMUSG00000018339
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:GSHPx
|
40 |
153 |
1.6e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149324
|
| SMART Domains |
Protein: ENSMUSP00000119882
Gene: ENSMUSG00000018339
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:GSHPx
|
40 |
83 |
1e-13 |
PFAM |
|
Pfam:GSHPx
|
99 |
185 |
7.3e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124304
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (38/39) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is secreted and is highly expressed in mouse kidney, which appears to be the major source of the enzyme in plasma. It has a role in mouse organogenesis, and dysregulation of this isozyme has been associated with obesity-related metabolic complications, platelet-dependent thrombosis, colitis-associated carcinoma, and thermosensitive phenotype. This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced glutathione peroxidase activity, increase plasma selenium levels when mice are fed a selenium supplemented diet, and reduced kidney selenium levels regardless of selenium supplementation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
C |
T |
4: 106,617,277 (GRCm39) |
|
probably null |
Het |
| Afg1l |
T |
C |
10: 42,194,617 (GRCm39) |
T392A |
probably damaging |
Het |
| Ccdc66 |
A |
G |
14: 27,219,319 (GRCm39) |
S146P |
probably damaging |
Het |
| Ccl20 |
T |
A |
1: 83,095,638 (GRCm39) |
|
probably benign |
Het |
| Cd2 |
T |
A |
3: 101,183,371 (GRCm39) |
I313F |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,816,572 (GRCm39) |
D374E |
possibly damaging |
Het |
| Cep85l |
T |
C |
10: 53,157,592 (GRCm39) |
K602E |
probably benign |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dhx8 |
T |
C |
11: 101,630,526 (GRCm39) |
|
probably benign |
Het |
| Epha3 |
A |
T |
16: 63,386,999 (GRCm39) |
L878Q |
probably damaging |
Het |
| F2rl2 |
A |
T |
13: 95,837,461 (GRCm39) |
T169S |
probably damaging |
Het |
| Ipo5 |
T |
A |
14: 121,181,937 (GRCm39) |
V1010D |
possibly damaging |
Het |
| Nipbl |
A |
T |
15: 8,321,712 (GRCm39) |
L2647Q |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or5d18 |
T |
C |
2: 87,864,592 (GRCm39) |
D297G |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,263,785 (GRCm39) |
E393G |
probably damaging |
Het |
| Pibf1 |
C |
A |
14: 99,433,822 (GRCm39) |
Q590K |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,886,898 (GRCm39) |
D367G |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,940,965 (GRCm39) |
Y1106H |
probably damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Slco5a1 |
C |
T |
1: 13,060,116 (GRCm39) |
A202T |
probably damaging |
Het |
| Slco6c1 |
A |
C |
1: 97,047,685 (GRCm39) |
I206R |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Srek1 |
G |
A |
13: 103,889,011 (GRCm39) |
|
probably benign |
Het |
| St8sia6 |
T |
A |
2: 13,701,680 (GRCm39) |
R112S |
probably benign |
Het |
| Suclg1 |
T |
A |
6: 73,248,099 (GRCm39) |
H273Q |
probably benign |
Het |
| Taf2 |
T |
A |
15: 54,894,553 (GRCm39) |
|
probably null |
Het |
| Tctn1 |
A |
G |
5: 122,379,840 (GRCm39) |
V566A |
probably benign |
Het |
| Trpm4 |
A |
G |
7: 44,977,331 (GRCm39) |
|
probably benign |
Het |
| Trpv3 |
C |
T |
11: 73,169,764 (GRCm39) |
Q112* |
probably null |
Het |
| Ttll8 |
T |
C |
15: 88,818,138 (GRCm39) |
Y179C |
probably damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Upk1b |
A |
G |
16: 38,607,661 (GRCm39) |
|
probably benign |
Het |
| Zfp961 |
T |
G |
8: 72,722,139 (GRCm39) |
H217Q |
probably damaging |
Het |
|
| Other mutations in Gpx3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02125:Gpx3
|
APN |
11 |
54,798,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02600:Gpx3
|
APN |
11 |
54,800,433 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0589:Gpx3
|
UTSW |
11 |
54,800,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1344:Gpx3
|
UTSW |
11 |
54,800,422 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1418:Gpx3
|
UTSW |
11 |
54,800,422 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5105:Gpx3
|
UTSW |
11 |
54,797,980 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5390:Gpx3
|
UTSW |
11 |
54,800,375 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6476:Gpx3
|
UTSW |
11 |
54,798,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8494:Gpx3
|
UTSW |
11 |
54,793,846 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGGCAGCACATTGAAGGGTAG -3'
(R):5'- TCATGGGTTCCCAAAAGAGGCG -3'
Sequencing Primer
(F):5'- CACATTGAAGGGTAGAGATGTGG -3'
(R):5'- CCATCTCTATGCTGACTGGAAGG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation