Incidental Mutation 'IGL03369:Gpx8'
| ID |
420213 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpx8
|
| Ensembl Gene |
ENSMUSG00000021760 |
| Gene Name |
glutathione peroxidase 8 (putative) |
| Synonyms |
2310016C16Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.513)
|
| Stock # |
IGL03369
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
113179287-113182944 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113179696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 202
(I202V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022282]
[ENSMUST00000099162]
[ENSMUST00000109244]
[ENSMUST00000180543]
[ENSMUST00000181117]
[ENSMUST00000181568]
[ENSMUST00000231962]
|
| AlphaFold |
Q9D7B7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022282
AA Change: I202V
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022282
Gene: ENSMUSG00000021760
AA Change: I202V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AhpC-TSA
|
44 |
143 |
1.3e-8 |
PFAM |
|
Pfam:GSHPx
|
47 |
155 |
5.3e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000099162
|
| SMART Domains |
Protein: ENSMUSP00000096766
Gene: ENSMUSG00000074650
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
12 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109244
|
| SMART Domains |
Protein: ENSMUSP00000104867
Gene: ENSMUSG00000078926
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
97 |
N/A |
INTRINSIC |
|
WD40
|
218 |
257 |
6.6e1 |
SMART |
|
WD40
|
266 |
301 |
5.75e-1 |
SMART |
|
WD40
|
304 |
341 |
9.24e-1 |
SMART |
|
WD40
|
345 |
383 |
9.02e-7 |
SMART |
|
WD40
|
391 |
432 |
3.55e1 |
SMART |
|
WD40
|
473 |
517 |
2.01e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180543
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181117
|
| SMART Domains |
Protein: ENSMUSP00000137915
Gene: ENSMUSG00000078926
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
97 |
N/A |
INTRINSIC |
|
WD40
|
218 |
257 |
6.6e1 |
SMART |
|
WD40
|
266 |
301 |
5.75e-1 |
SMART |
|
WD40
|
304 |
341 |
9.24e-1 |
SMART |
|
WD40
|
345 |
383 |
9.02e-7 |
SMART |
|
WD40
|
391 |
432 |
3.55e1 |
SMART |
|
WD40
|
473 |
513 |
1.78e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181568
|
| SMART Domains |
Protein: ENSMUSP00000137849
Gene: ENSMUSG00000078926
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
97 |
N/A |
INTRINSIC |
|
WD40
|
218 |
257 |
6.6e1 |
SMART |
|
WD40
|
266 |
301 |
5.75e-1 |
SMART |
|
WD40
|
304 |
341 |
9.24e-1 |
SMART |
|
WD40
|
345 |
383 |
9.02e-7 |
SMART |
|
WD40
|
431 |
475 |
2.01e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181741
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231962
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Male homozygous mice exhibit chronic active dermatitis, with epodermal hyperplasia and hyperkeratosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
T |
C |
6: 124,333,380 (GRCm39) |
N72S |
possibly damaging |
Het |
| A2m |
G |
A |
6: 121,653,862 (GRCm39) |
|
probably null |
Het |
| Angptl3 |
A |
T |
4: 98,923,057 (GRCm39) |
|
probably benign |
Het |
| Aox4 |
A |
G |
1: 58,301,746 (GRCm39) |
D1106G |
probably benign |
Het |
| Capn13 |
G |
A |
17: 73,648,149 (GRCm39) |
|
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,832,191 (GRCm39) |
H1371R |
probably benign |
Het |
| Chrna1 |
A |
T |
2: 73,400,789 (GRCm39) |
F247Y |
probably benign |
Het |
| Col2a1 |
T |
C |
15: 97,879,923 (GRCm39) |
T813A |
unknown |
Het |
| Dab2 |
T |
C |
15: 6,464,790 (GRCm39) |
V414A |
possibly damaging |
Het |
| Dach2 |
T |
C |
X: 112,465,937 (GRCm39) |
|
probably benign |
Het |
| Fap |
A |
G |
2: 62,333,699 (GRCm39) |
|
probably benign |
Het |
| Fgd5 |
T |
A |
6: 91,965,396 (GRCm39) |
V385D |
probably damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,088,008 (GRCm39) |
|
probably null |
Het |
| Gorasp2 |
G |
A |
2: 70,513,336 (GRCm39) |
G201D |
probably damaging |
Het |
| Gp2 |
T |
A |
7: 119,050,783 (GRCm39) |
Q316L |
probably damaging |
Het |
| Gsta3 |
A |
G |
1: 21,335,173 (GRCm39) |
K218R |
probably benign |
Het |
| Lama3 |
C |
T |
18: 12,686,340 (GRCm39) |
T1195I |
probably benign |
Het |
| Map3k12 |
T |
C |
15: 102,410,514 (GRCm39) |
R488G |
possibly damaging |
Het |
| Mapt |
A |
T |
11: 104,173,259 (GRCm39) |
Y18F |
probably damaging |
Het |
| Med21 |
T |
C |
6: 146,544,143 (GRCm39) |
V12A |
probably benign |
Het |
| Mgat4b |
A |
G |
11: 50,124,936 (GRCm39) |
E457G |
possibly damaging |
Het |
| Mybl1 |
T |
A |
1: 9,742,780 (GRCm39) |
K609N |
probably damaging |
Het |
| Ncaph2 |
T |
G |
15: 89,247,858 (GRCm39) |
V75G |
probably benign |
Het |
| Neb |
A |
G |
2: 52,068,049 (GRCm39) |
Y5795H |
probably benign |
Het |
| Nup153 |
A |
G |
13: 46,854,459 (GRCm39) |
|
probably null |
Het |
| Or6c215 |
T |
C |
10: 129,638,340 (GRCm39) |
D18G |
probably damaging |
Het |
| Or6y1 |
T |
A |
1: 174,276,435 (GRCm39) |
I82N |
probably damaging |
Het |
| Plekhf2 |
G |
T |
4: 10,990,703 (GRCm39) |
T213K |
probably benign |
Het |
| Plekho2 |
C |
A |
9: 65,466,776 (GRCm39) |
G105W |
probably damaging |
Het |
| Polr3b |
G |
A |
10: 84,512,816 (GRCm39) |
G566D |
probably damaging |
Het |
| Rasgrf1 |
T |
C |
9: 89,892,504 (GRCm39) |
I1068T |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,312,294 (GRCm39) |
E907V |
probably benign |
Het |
| Runx1t1 |
C |
T |
4: 13,881,107 (GRCm39) |
S469F |
probably damaging |
Het |
| Spata31e4 |
G |
T |
13: 50,857,200 (GRCm39) |
C946F |
possibly damaging |
Het |
| Top1 |
A |
T |
2: 160,535,647 (GRCm39) |
D182V |
unknown |
Het |
| Uckl1 |
T |
C |
2: 181,211,982 (GRCm39) |
T375A |
probably benign |
Het |
| Usp53 |
A |
T |
3: 122,727,370 (GRCm39) |
|
probably benign |
Het |
| Vmn2r61 |
T |
A |
7: 41,909,517 (GRCm39) |
I14N |
probably benign |
Het |
| Wbp4 |
A |
T |
14: 79,707,558 (GRCm39) |
N184K |
probably damaging |
Het |
|
| Other mutations in Gpx8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00703:Gpx8
|
APN |
13 |
113,182,047 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01110:Gpx8
|
APN |
13 |
113,182,218 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02190:Gpx8
|
APN |
13 |
113,179,843 (GRCm39) |
splice site |
probably benign |
|
|
IGL03085:Gpx8
|
APN |
13 |
113,179,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0597:Gpx8
|
UTSW |
13 |
113,182,035 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1494:Gpx8
|
UTSW |
13 |
113,182,149 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1906:Gpx8
|
UTSW |
13 |
113,182,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1941:Gpx8
|
UTSW |
13 |
113,182,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2174:Gpx8
|
UTSW |
13 |
113,182,140 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4414:Gpx8
|
UTSW |
13 |
113,179,682 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4860:Gpx8
|
UTSW |
13 |
113,182,042 (GRCm39) |
nonsense |
probably null |
|
|
R4860:Gpx8
|
UTSW |
13 |
113,182,042 (GRCm39) |
nonsense |
probably null |
|
|
R6920:Gpx8
|
UTSW |
13 |
113,179,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7689:Gpx8
|
UTSW |
13 |
113,179,711 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7904:Gpx8
|
UTSW |
13 |
113,182,035 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8849:Gpx8
|
UTSW |
13 |
113,179,704 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9569:Gpx8
|
UTSW |
13 |
113,182,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Gpx8
|
UTSW |
13 |
113,179,709 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2016-08-02 |
Incidental Mutation