Incidental Mutation 'R0037:Enox1'
ID |
15484 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Enox1
|
Ensembl Gene |
ENSMUSG00000022012 |
Gene Name |
ecto-NOX disulfide-thiol exchanger 1 |
Synonyms |
D230005D02Rik |
MMRRC Submission |
038331-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0037 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
77394203-77959200 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 77936750 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154296
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022589]
[ENSMUST00000227662]
[ENSMUST00000227831]
|
AlphaFold |
Q8BHR2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022589
|
SMART Domains |
Protein: ENSMUSP00000022589 Gene: ENSMUSG00000022012
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 benign
Transcript: ENSMUST00000227662
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227831
|
Coding Region Coverage |
- 1x: 81.5%
- 3x: 73.9%
- 10x: 52.8%
- 20x: 32.9%
|
Validation Efficiency |
94% (83/88) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
G |
A |
8: 111,769,891 (GRCm39) |
R330Q |
possibly damaging |
Het |
Amph |
A |
T |
13: 19,284,823 (GRCm39) |
S250C |
possibly damaging |
Het |
Ankrd61 |
T |
C |
5: 143,831,795 (GRCm39) |
N3S |
probably damaging |
Het |
Camsap2 |
C |
T |
1: 136,209,630 (GRCm39) |
E621K |
probably damaging |
Het |
Cpt2 |
A |
G |
4: 107,765,171 (GRCm39) |
S152P |
probably damaging |
Het |
Csmd1 |
T |
A |
8: 15,967,248 (GRCm39) |
Q3205L |
probably damaging |
Het |
Dag1 |
G |
T |
9: 108,084,552 (GRCm39) |
P863Q |
probably damaging |
Het |
Dclk1 |
A |
G |
3: 55,163,480 (GRCm39) |
I191V |
probably benign |
Het |
Ddhd1 |
A |
G |
14: 45,847,967 (GRCm39) |
L567P |
probably damaging |
Het |
Exoc3 |
T |
C |
13: 74,347,658 (GRCm39) |
E104G |
probably damaging |
Het |
Foxp1 |
T |
A |
6: 99,139,930 (GRCm39) |
Q17L |
probably damaging |
Het |
Fscn1 |
A |
G |
5: 142,956,449 (GRCm39) |
|
probably benign |
Het |
Fut8 |
T |
C |
12: 77,411,811 (GRCm39) |
V91A |
probably benign |
Het |
Gm5475 |
T |
A |
15: 100,322,083 (GRCm39) |
Y77* |
probably null |
Het |
Gm5800 |
T |
C |
14: 51,953,605 (GRCm39) |
|
probably benign |
Het |
Hs2st1 |
T |
A |
3: 144,143,405 (GRCm39) |
K213* |
probably null |
Het |
Il5ra |
T |
A |
6: 106,719,647 (GRCm39) |
Y62F |
probably damaging |
Het |
Inpp5d |
A |
G |
1: 87,635,851 (GRCm39) |
E734G |
probably damaging |
Het |
Insig2 |
A |
T |
1: 121,234,649 (GRCm39) |
C194S |
probably damaging |
Het |
Lemd3 |
A |
C |
10: 120,761,361 (GRCm39) |
H898Q |
possibly damaging |
Het |
Lrp4 |
A |
G |
2: 91,301,548 (GRCm39) |
T43A |
probably benign |
Het |
Mast3 |
C |
T |
8: 71,236,343 (GRCm39) |
|
probably null |
Het |
Melk |
T |
C |
4: 44,360,864 (GRCm39) |
|
probably benign |
Het |
Myo10 |
C |
T |
15: 25,666,618 (GRCm39) |
|
probably benign |
Het |
Nlrc5 |
G |
A |
8: 95,216,163 (GRCm39) |
V967M |
probably benign |
Het |
Nlrp9b |
T |
A |
7: 19,757,647 (GRCm39) |
F295I |
probably damaging |
Het |
Phf3 |
A |
T |
1: 30,843,999 (GRCm39) |
D1653E |
probably benign |
Het |
Ppfia4 |
A |
T |
1: 134,251,827 (GRCm39) |
L449Q |
probably damaging |
Het |
Ppp1r16b |
T |
A |
2: 158,599,129 (GRCm39) |
I367N |
probably damaging |
Het |
Ralgapb |
T |
C |
2: 158,279,331 (GRCm39) |
L139S |
probably damaging |
Het |
Slc20a1 |
T |
C |
2: 129,052,692 (GRCm39) |
V658A |
probably damaging |
Het |
Son |
C |
A |
16: 91,461,616 (GRCm39) |
A347E |
probably damaging |
Het |
Tprg1l |
C |
A |
4: 154,244,594 (GRCm39) |
V134L |
possibly damaging |
Het |
Trim24 |
A |
T |
6: 37,934,484 (GRCm39) |
N733I |
probably damaging |
Het |
Uggt1 |
A |
T |
1: 36,225,013 (GRCm39) |
D540E |
probably benign |
Het |
Urb2 |
T |
A |
8: 124,773,934 (GRCm39) |
F1488L |
probably damaging |
Het |
Utp20 |
T |
C |
10: 88,634,266 (GRCm39) |
D810G |
probably benign |
Het |
Zfp473 |
T |
A |
7: 44,383,324 (GRCm39) |
K335N |
probably damaging |
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 |
|
IGL01509:Enox1
|
APN |
14 |
77,936,713 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
2012-12-21 |