Incidental Mutation 'R2845:Gpx6'
| ID |
251536 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpx6
|
| Ensembl Gene |
ENSMUSG00000004341 |
| Gene Name |
glutathione peroxidase 6 |
| Synonyms |
1700020G18Rik, olfactory |
| MMRRC Submission |
040438-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2845 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
21496295-21503794 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 21503045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004453]
|
| AlphaFold |
Q91WR8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000004453
|
| SMART Domains |
Protein: ENSMUSP00000004453
Gene: ENSMUSG00000004341
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:GSHPx
|
40 |
153 |
1.2e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136668
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the glutathione peroxidase family. Glutathione peroxidases catalyze the reduction of a variety of hydroperoxides, using glutathione as a specific electron donor substrate. The mouse and the rat orthologs contain Cys, unlike their human counterpart, which is a selenoprotein containing Sec (selenocysteine) at its active site. Expression of this gene is restricted to embryos and adult olfactory epithelium. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap25 |
C |
T |
6: 87,436,949 (GRCm39) |
E634K |
possibly damaging |
Het |
| Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Cep152 |
A |
G |
2: 125,429,894 (GRCm39) |
I676T |
probably damaging |
Het |
| Cherp |
C |
A |
8: 73,220,247 (GRCm39) |
A449S |
probably damaging |
Het |
| Col19a1 |
C |
T |
1: 24,598,762 (GRCm39) |
G77E |
unknown |
Het |
| Cplane1 |
G |
A |
15: 8,245,864 (GRCm39) |
R1412H |
probably damaging |
Het |
| Csnk1g2 |
A |
G |
10: 80,474,438 (GRCm39) |
S220G |
probably damaging |
Het |
| Efcab7 |
T |
A |
4: 99,766,835 (GRCm39) |
V20D |
probably damaging |
Het |
| Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,339,849 (GRCm39) |
F714S |
probably damaging |
Het |
| Hsd3b1 |
T |
C |
3: 98,760,094 (GRCm39) |
E299G |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
| Mrgpra2a |
T |
A |
7: 47,076,878 (GRCm39) |
M127L |
probably benign |
Het |
| Or10al3 |
T |
C |
17: 38,011,714 (GRCm39) |
I51T |
probably damaging |
Het |
| Pign |
C |
A |
1: 105,585,521 (GRCm39) |
L9F |
possibly damaging |
Het |
| Plekha1 |
G |
T |
7: 130,510,095 (GRCm39) |
W280C |
probably damaging |
Het |
| Plekhh3 |
T |
C |
11: 101,061,056 (GRCm39) |
|
probably benign |
Het |
| Pramel22 |
G |
A |
4: 143,380,868 (GRCm39) |
S385F |
probably damaging |
Het |
| Psmd13 |
C |
A |
7: 140,477,653 (GRCm39) |
|
probably benign |
Het |
| Ptpru |
T |
A |
4: 131,546,972 (GRCm39) |
I168F |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,187,421 (GRCm39) |
|
probably null |
Het |
| Skint10 |
T |
C |
4: 112,573,023 (GRCm39) |
S258G |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Ssh3 |
T |
C |
19: 4,315,324 (GRCm39) |
Y338C |
probably damaging |
Het |
| Tas2r138 |
T |
C |
6: 40,589,701 (GRCm39) |
S182G |
probably benign |
Het |
| Tgfbr3l |
A |
G |
8: 4,299,280 (GRCm39) |
D49G |
probably damaging |
Het |
| Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
| Zfp24 |
G |
T |
18: 24,150,885 (GRCm39) |
T87K |
probably damaging |
Het |
| Zfp407 |
G |
T |
18: 84,576,522 (GRCm39) |
C1530* |
probably null |
Het |
|
| Other mutations in Gpx6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00674:Gpx6
|
APN |
13 |
21,497,978 (GRCm39) |
splice site |
probably benign |
|
|
Jaded
|
UTSW |
13 |
21,501,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0648:Gpx6
|
UTSW |
13 |
21,503,047 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0835:Gpx6
|
UTSW |
13 |
21,501,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1496:Gpx6
|
UTSW |
13 |
21,503,090 (GRCm39) |
missense |
probably benign |
|
|
R1538:Gpx6
|
UTSW |
13 |
21,497,822 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1839:Gpx6
|
UTSW |
13 |
21,496,497 (GRCm39) |
missense |
probably benign |
|
|
R2151:Gpx6
|
UTSW |
13 |
21,503,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3785:Gpx6
|
UTSW |
13 |
21,497,956 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3973:Gpx6
|
UTSW |
13 |
21,501,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3974:Gpx6
|
UTSW |
13 |
21,501,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3975:Gpx6
|
UTSW |
13 |
21,501,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4124:Gpx6
|
UTSW |
13 |
21,501,815 (GRCm39) |
nonsense |
probably null |
|
|
R4707:Gpx6
|
UTSW |
13 |
21,496,434 (GRCm39) |
nonsense |
probably null |
|
|
R4751:Gpx6
|
UTSW |
13 |
21,501,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4784:Gpx6
|
UTSW |
13 |
21,496,434 (GRCm39) |
nonsense |
probably null |
|
|
R4785:Gpx6
|
UTSW |
13 |
21,496,434 (GRCm39) |
nonsense |
probably null |
|
|
R5002:Gpx6
|
UTSW |
13 |
21,497,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5403:Gpx6
|
UTSW |
13 |
21,501,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6004:Gpx6
|
UTSW |
13 |
21,503,239 (GRCm39) |
missense |
probably benign |
|
|
R6030:Gpx6
|
UTSW |
13 |
21,496,510 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6030:Gpx6
|
UTSW |
13 |
21,496,510 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7223:Gpx6
|
UTSW |
13 |
21,501,840 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9701:Gpx6
|
UTSW |
13 |
21,501,777 (GRCm39) |
missense |
probably benign |
0.13 |
|
X0017:Gpx6
|
UTSW |
13 |
21,501,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTAACCTGGTTAGAGTGGCC -3'
(R):5'- AAAGCCTTTCTTACTGGGTACTGG -3'
Sequencing Primer
(F):5'- TGGCCTTGGAGTACTAGTAGCAATAC -3'
(R):5'- GTACTCCATGATGTCTGACTGGAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation