Incidental Mutation 'IGL02190:Gpx8'
| ID |
283851 |
| 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 # |
IGL02190
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
113179287-113182944 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 113179843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022282]
[ENSMUST00000099162]
[ENSMUST00000109244]
[ENSMUST00000180543]
[ENSMUST00000181117]
[ENSMUST00000181568]
[ENSMUST00000231962]
|
| AlphaFold |
Q9D7B7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022282
|
| SMART Domains |
Protein: ENSMUSP00000022282
Gene: ENSMUSG00000021760
| 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 |
|---|
| Adgrd1 |
T |
C |
5: 129,217,788 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
T |
C |
7: 144,172,620 (GRCm39) |
E521G |
probably benign |
Het |
| As3mt |
A |
T |
19: 46,708,384 (GRCm39) |
I224F |
probably benign |
Het |
| Atp5mf |
C |
A |
5: 145,120,642 (GRCm39) |
|
probably benign |
Het |
| Cacna1h |
A |
G |
17: 25,652,000 (GRCm39) |
V48A |
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,208,397 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,800,190 (GRCm39) |
S1838R |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,012,140 (GRCm39) |
R841G |
probably benign |
Het |
| Erbb3 |
A |
T |
10: 128,406,879 (GRCm39) |
|
probably null |
Het |
| Fkbp15 |
G |
T |
4: 62,223,059 (GRCm39) |
P947T |
possibly damaging |
Het |
| Gabpb1 |
A |
G |
2: 126,495,469 (GRCm39) |
|
probably benign |
Het |
| Gcn1 |
G |
T |
5: 115,752,183 (GRCm39) |
V2100L |
probably damaging |
Het |
| Gemin5 |
A |
C |
11: 58,025,668 (GRCm39) |
V977G |
probably damaging |
Het |
| Gpr107 |
T |
A |
2: 31,068,332 (GRCm39) |
Y265N |
probably damaging |
Het |
| H2-Eb2 |
A |
T |
17: 34,553,348 (GRCm39) |
N178I |
probably damaging |
Het |
| Ift172 |
C |
T |
5: 31,411,802 (GRCm39) |
V1587I |
possibly damaging |
Het |
| Lrrc45 |
A |
G |
11: 120,609,334 (GRCm39) |
T398A |
probably damaging |
Het |
| Mmrn1 |
G |
T |
6: 60,964,177 (GRCm39) |
V1059L |
probably benign |
Het |
| Morn5 |
A |
G |
2: 35,969,527 (GRCm39) |
D147G |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,403,488 (GRCm39) |
R847G |
possibly damaging |
Het |
| Nutm1 |
C |
T |
2: 112,079,751 (GRCm39) |
W721* |
probably null |
Het |
| Or1j18 |
T |
C |
2: 36,624,591 (GRCm39) |
L86P |
probably benign |
Het |
| Or2j6 |
T |
C |
7: 139,980,033 (GRCm39) |
|
probably benign |
Het |
| Or5w13 |
A |
G |
2: 87,523,407 (GRCm39) |
M273T |
probably benign |
Het |
| Rgl3 |
A |
G |
9: 21,893,004 (GRCm39) |
F227L |
probably benign |
Het |
| Ropn1l |
G |
T |
15: 31,443,487 (GRCm39) |
L182I |
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Scgb1a1 |
A |
T |
19: 9,065,231 (GRCm39) |
L12Q |
probably damaging |
Het |
| Scp2 |
A |
G |
4: 107,944,325 (GRCm39) |
S237P |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,797,962 (GRCm39) |
Q207R |
possibly damaging |
Het |
| Slc16a5 |
A |
G |
11: 115,353,435 (GRCm39) |
M1V |
probably null |
Het |
| Tox2 |
G |
A |
2: 163,164,926 (GRCm39) |
R522H |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,743,791 (GRCm39) |
N505K |
probably damaging |
Het |
| Tuba1c |
G |
A |
15: 98,935,870 (GRCm39) |
D444N |
unknown |
Het |
| Vmn1r174 |
A |
G |
7: 23,454,252 (GRCm39) |
E306G |
unknown |
Het |
| Vmn2r111 |
A |
T |
17: 22,789,754 (GRCm39) |
F417L |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,441,240 (GRCm39) |
M206K |
probably damaging |
Het |
| Vmn2r95 |
G |
T |
17: 18,672,038 (GRCm39) |
A592S |
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
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 |
|
IGL03085:Gpx8
|
APN |
13 |
113,179,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03369:Gpx8
|
APN |
13 |
113,179,696 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
2015-04-16 |
Incidental Mutation