Incidental Mutation 'IGL01509:Enox1'
ID |
89148 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Enox1
|
Ensembl Gene |
ENSMUSG00000022012 |
Gene Name |
ecto-NOX disulfide-thiol exchanger 1 |
Synonyms |
D230005D02Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01509
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
77394203-77959200 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 77936713 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 583
(S583P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154512
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022589]
[ENSMUST00000227662]
[ENSMUST00000227831]
|
AlphaFold |
Q8BHR2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022589
AA Change: S564P
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000022589 Gene: ENSMUSG00000022012 AA Change: S564P
Domain | Start | End | E-Value | Type |
low complexity region
|
95 |
105 |
N/A |
INTRINSIC |
RRM
|
143 |
209 |
2.41e-8 |
SMART |
low complexity region
|
233 |
251 |
N/A |
INTRINSIC |
coiled coil region
|
307 |
342 |
N/A |
INTRINSIC |
low complexity region
|
395 |
406 |
N/A |
INTRINSIC |
coiled coil region
|
425 |
527 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227662
AA Change: S583P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227831
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in plasma membrane electron transport pathways. The encoded protein has both a hydroquinone (NADH) oxidase activity and a protein disulfide-thiol interchange activity. The two activities cycle with a periodicity of 24 minutes, with one activity being at its peak when the other is at its lowest. [provided by RefSeq, Dec 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4gnt |
T |
A |
9: 99,495,819 (GRCm39) |
I85N |
probably benign |
Het |
Bbof1 |
T |
A |
12: 84,457,859 (GRCm39) |
N41K |
possibly damaging |
Het |
Cdh10 |
A |
G |
15: 18,986,884 (GRCm39) |
K372E |
possibly damaging |
Het |
Clmn |
T |
A |
12: 104,747,162 (GRCm39) |
Q795L |
probably benign |
Het |
Dnai4 |
G |
A |
4: 102,929,884 (GRCm39) |
P369L |
possibly damaging |
Het |
Hmcn1 |
C |
T |
1: 150,485,382 (GRCm39) |
G4407S |
probably damaging |
Het |
Ifi206 |
T |
A |
1: 173,313,142 (GRCm39) |
M109L |
probably benign |
Het |
Ighmbp2 |
A |
G |
19: 3,318,711 (GRCm39) |
M455T |
possibly damaging |
Het |
Inpp4b |
T |
C |
8: 82,617,332 (GRCm39) |
|
probably benign |
Het |
Mctp2 |
A |
G |
7: 71,909,017 (GRCm39) |
S99P |
probably benign |
Het |
Mrgprb2 |
G |
A |
7: 48,202,674 (GRCm39) |
T17M |
possibly damaging |
Het |
Ogdhl |
T |
A |
14: 32,059,716 (GRCm39) |
M410K |
probably damaging |
Het |
Pard3b |
A |
T |
1: 62,200,407 (GRCm39) |
R315S |
possibly damaging |
Het |
Pde3b |
A |
G |
7: 114,117,645 (GRCm39) |
Q625R |
probably benign |
Het |
Plxna3 |
A |
G |
X: 73,376,039 (GRCm39) |
Q355R |
probably benign |
Het |
Ptprm |
A |
T |
17: 67,069,208 (GRCm39) |
F907I |
possibly damaging |
Het |
Slc16a4 |
A |
C |
3: 107,218,750 (GRCm39) |
|
probably null |
Het |
Tasor |
T |
C |
14: 27,181,731 (GRCm39) |
|
probably benign |
Het |
Vmn1r82 |
A |
T |
7: 12,039,096 (GRCm39) |
H123L |
probably damaging |
Het |
Vmn2r1 |
T |
C |
3: 64,010,466 (GRCm39) |
I568T |
probably benign |
Het |
Zfp7 |
G |
A |
15: 76,765,333 (GRCm39) |
V9M |
probably damaging |
Het |
Zfp759 |
A |
G |
13: 67,287,658 (GRCm39) |
N403S |
probably benign |
Het |
|
Other mutations in Enox1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00902:Enox1
|
APN |
14 |
77,819,844 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL01376:Enox1
|
APN |
14 |
77,489,283 (GRCm39) |
intron |
probably benign |
|
IGL01684:Enox1
|
APN |
14 |
77,816,533 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01874:Enox1
|
APN |
14 |
77,816,602 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03324:Enox1
|
APN |
14 |
77,852,925 (GRCm39) |
missense |
probably damaging |
1.00 |
Soft
|
UTSW |
14 |
77,723,457 (GRCm39) |
intron |
probably benign |
|
R0037:Enox1
|
UTSW |
14 |
77,936,750 (GRCm39) |
splice site |
probably benign |
|
R0112:Enox1
|
UTSW |
14 |
77,936,638 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0543:Enox1
|
UTSW |
14 |
77,744,399 (GRCm39) |
splice site |
probably benign |
|
R0569:Enox1
|
UTSW |
14 |
77,875,117 (GRCm39) |
missense |
probably damaging |
0.99 |
R0708:Enox1
|
UTSW |
14 |
77,830,352 (GRCm39) |
missense |
probably benign |
0.28 |
R0811:Enox1
|
UTSW |
14 |
77,819,876 (GRCm39) |
missense |
probably damaging |
0.99 |
R0812:Enox1
|
UTSW |
14 |
77,819,876 (GRCm39) |
missense |
probably damaging |
0.99 |
R1417:Enox1
|
UTSW |
14 |
77,723,445 (GRCm39) |
intron |
probably benign |
|
R1654:Enox1
|
UTSW |
14 |
77,848,814 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1678:Enox1
|
UTSW |
14 |
77,815,096 (GRCm39) |
missense |
probably benign |
0.00 |
R1817:Enox1
|
UTSW |
14 |
77,852,915 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1976:Enox1
|
UTSW |
14 |
77,906,233 (GRCm39) |
missense |
probably benign |
|
R2520:Enox1
|
UTSW |
14 |
77,819,839 (GRCm39) |
missense |
probably damaging |
0.99 |
R3880:Enox1
|
UTSW |
14 |
77,848,826 (GRCm39) |
missense |
possibly damaging |
0.49 |
R4096:Enox1
|
UTSW |
14 |
77,815,160 (GRCm39) |
missense |
probably damaging |
0.99 |
R4885:Enox1
|
UTSW |
14 |
77,958,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R4998:Enox1
|
UTSW |
14 |
77,738,875 (GRCm39) |
intron |
probably benign |
|
R5110:Enox1
|
UTSW |
14 |
77,945,127 (GRCm39) |
critical splice donor site |
probably null |
|
R5341:Enox1
|
UTSW |
14 |
77,815,096 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5469:Enox1
|
UTSW |
14 |
77,830,414 (GRCm39) |
missense |
probably benign |
0.00 |
R5596:Enox1
|
UTSW |
14 |
77,816,493 (GRCm39) |
missense |
probably benign |
0.42 |
R5833:Enox1
|
UTSW |
14 |
77,744,379 (GRCm39) |
missense |
probably benign |
0.01 |
R5892:Enox1
|
UTSW |
14 |
77,723,457 (GRCm39) |
intron |
probably benign |
|
R6174:Enox1
|
UTSW |
14 |
77,745,627 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6267:Enox1
|
UTSW |
14 |
77,815,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R6867:Enox1
|
UTSW |
14 |
77,936,739 (GRCm39) |
critical splice donor site |
probably null |
|
R7069:Enox1
|
UTSW |
14 |
77,848,764 (GRCm39) |
missense |
probably damaging |
0.99 |
R7219:Enox1
|
UTSW |
14 |
77,958,284 (GRCm39) |
missense |
probably benign |
0.15 |
R7316:Enox1
|
UTSW |
14 |
77,958,298 (GRCm39) |
missense |
probably benign |
0.01 |
R7738:Enox1
|
UTSW |
14 |
77,815,220 (GRCm39) |
missense |
probably damaging |
0.99 |
R8495:Enox1
|
UTSW |
14 |
77,870,012 (GRCm39) |
missense |
probably benign |
0.00 |
R8838:Enox1
|
UTSW |
14 |
77,819,950 (GRCm39) |
missense |
probably benign |
|
R9251:Enox1
|
UTSW |
14 |
77,852,997 (GRCm39) |
critical splice donor site |
probably null |
|
Z1177:Enox1
|
UTSW |
14 |
77,906,187 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2013-12-03 |