Incidental Mutation 'R8838:Enox1'
ID |
674289 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Enox1
|
Ensembl Gene |
ENSMUSG00000022012 |
Gene Name |
ecto-NOX disulfide-thiol exchanger 1 |
Synonyms |
D230005D02Rik |
MMRRC Submission |
068666-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8838 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
77394203-77959200 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 77819950 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 235
(R235L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022589
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022589]
[ENSMUST00000227662]
[ENSMUST00000227831]
|
AlphaFold |
Q8BHR2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022589
AA Change: R235L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000022589 Gene: ENSMUSG00000022012 AA Change: R235L
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
AA Change: R235L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227831
AA Change: R235L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (52/52) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
A |
11: 109,920,881 (GRCm39) |
I1498F |
probably damaging |
Het |
Aco2 |
T |
A |
15: 81,796,128 (GRCm39) |
N508K |
probably damaging |
Het |
Aff4 |
T |
C |
11: 53,297,465 (GRCm39) |
S896P |
possibly damaging |
Het |
Anapc2 |
T |
G |
2: 25,163,546 (GRCm39) |
V261G |
probably benign |
Het |
Atm |
A |
G |
9: 53,427,851 (GRCm39) |
S420P |
probably damaging |
Het |
Bag6 |
C |
T |
17: 35,363,367 (GRCm39) |
R736C |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,465,005 (GRCm39) |
T1590A |
possibly damaging |
Het |
Cacna2d3 |
C |
T |
14: 28,691,220 (GRCm39) |
C35Y |
probably benign |
Het |
Cep170b |
G |
A |
12: 112,710,159 (GRCm39) |
R1433H |
probably damaging |
Het |
Cmtm2a |
A |
G |
8: 105,008,036 (GRCm39) |
C138R |
probably damaging |
Het |
Cntnap5c |
T |
A |
17: 58,198,964 (GRCm39) |
V86E |
|
Het |
Cog7 |
A |
G |
7: 121,549,106 (GRCm39) |
I385T |
probably damaging |
Het |
Col28a1 |
A |
T |
6: 8,091,839 (GRCm39) |
|
probably null |
Het |
Dkk3 |
T |
C |
7: 111,717,542 (GRCm39) |
E309G |
probably benign |
Het |
Dnah10 |
T |
C |
5: 124,842,614 (GRCm39) |
V1411A |
probably benign |
Het |
Foxn1 |
T |
C |
11: 78,252,438 (GRCm39) |
N317D |
possibly damaging |
Het |
Grip2 |
G |
A |
6: 91,762,721 (GRCm39) |
|
probably benign |
Het |
Hmmr |
T |
C |
11: 40,604,854 (GRCm39) |
T406A |
probably benign |
Het |
Hpcal1 |
G |
A |
12: 17,836,197 (GRCm39) |
R9H |
probably benign |
Het |
Iglv3 |
A |
T |
16: 19,060,132 (GRCm39) |
Y65* |
probably null |
Het |
Itgal |
A |
G |
7: 126,910,433 (GRCm39) |
Y514C |
probably damaging |
Het |
Kcnk9 |
T |
C |
15: 72,418,019 (GRCm39) |
E37G |
possibly damaging |
Het |
Klhl40 |
A |
G |
9: 121,609,107 (GRCm39) |
D424G |
probably benign |
Het |
Lbr |
A |
G |
1: 181,648,294 (GRCm39) |
L389P |
possibly damaging |
Het |
Ly9 |
A |
G |
1: 171,421,569 (GRCm39) |
Y561H |
probably damaging |
Het |
Mcoln3 |
T |
C |
3: 145,845,126 (GRCm39) |
F441L |
probably damaging |
Het |
Muc20 |
G |
T |
16: 32,613,829 (GRCm39) |
T516K |
possibly damaging |
Het |
Naa35 |
T |
C |
13: 59,775,775 (GRCm39) |
M551T |
probably benign |
Het |
Nkx6-2 |
T |
A |
7: 139,161,868 (GRCm39) |
T170S |
probably damaging |
Het |
Nlrp4c |
T |
A |
7: 6,069,337 (GRCm39) |
F413I |
|
Het |
Or10w1 |
G |
A |
19: 13,632,371 (GRCm39) |
V193M |
probably damaging |
Het |
Or1s2 |
C |
A |
19: 13,758,381 (GRCm39) |
T133K |
probably benign |
Het |
Or6c1b |
T |
G |
10: 129,273,065 (GRCm39) |
L128R |
probably damaging |
Het |
Or8k22 |
T |
C |
2: 86,163,317 (GRCm39) |
K128E |
possibly damaging |
Het |
Pcdhga10 |
C |
T |
18: 37,881,952 (GRCm39) |
T571I |
possibly damaging |
Het |
Pla2g4a |
A |
T |
1: 149,747,256 (GRCm39) |
M310K |
probably benign |
Het |
Plaa |
T |
C |
4: 94,471,791 (GRCm39) |
T353A |
probably benign |
Het |
Rapgef1 |
T |
C |
2: 29,627,458 (GRCm39) |
F1172S |
possibly damaging |
Het |
Rfx2 |
T |
C |
17: 57,087,877 (GRCm39) |
T505A |
possibly damaging |
Het |
Rfx4 |
T |
C |
10: 84,676,758 (GRCm39) |
V216A |
probably damaging |
Het |
Rps6kb2 |
G |
T |
19: 4,211,183 (GRCm39) |
A114D |
probably damaging |
Het |
Sdc2 |
T |
A |
15: 33,023,897 (GRCm39) |
L92* |
probably null |
Het |
Slc18b1 |
A |
G |
10: 23,696,764 (GRCm39) |
Y319C |
probably benign |
Het |
Slc22a15 |
A |
T |
3: 101,790,849 (GRCm39) |
Y219N |
probably damaging |
Het |
Tarbp1 |
A |
T |
8: 127,177,569 (GRCm39) |
|
probably benign |
Het |
Tfap2d |
T |
C |
1: 19,175,036 (GRCm39) |
L163P |
possibly damaging |
Het |
Trank1 |
A |
G |
9: 111,193,973 (GRCm39) |
I666V |
probably benign |
Het |
Trav14-1 |
G |
T |
14: 53,792,009 (GRCm39) |
A120S |
probably damaging |
Het |
Trps1 |
T |
A |
15: 50,753,007 (GRCm39) |
N20I |
probably benign |
Het |
Txndc16 |
A |
G |
14: 45,378,028 (GRCm39) |
Y682H |
probably damaging |
Het |
Ube4a |
A |
T |
9: 44,837,261 (GRCm39) |
D991E |
probably damaging |
Het |
Zswim4 |
C |
T |
8: 84,940,699 (GRCm39) |
R800Q |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTCTCCTGAGGCACAGTTG -3'
(R):5'- AGCCTGACTAAGCAATGGC -3'
Sequencing Primer
(F):5'- ACAGTTGCTTAGCTTGTGGGAAATG -3'
(R):5'- TCCCTAGCCCGATGATGGAAC -3'
|
Posted On |
2021-07-15 |