Incidental Mutation 'R6867:Enox1'
ID |
535992 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Enox1
|
Ensembl Gene |
ENSMUSG00000022012 |
Gene Name |
ecto-NOX disulfide-thiol exchanger 1 |
Synonyms |
D230005D02Rik |
MMRRC Submission |
045028-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6867 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
77394203-77959200 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 77936739 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154512
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022589]
[ENSMUST00000227662]
[ENSMUST00000227831]
|
AlphaFold |
Q8BHR2 |
Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000227662
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227831
|
Meta Mutation Damage Score |
0.9486 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (43/43) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apold1 |
T |
C |
6: 134,961,019 (GRCm39) |
S158P |
possibly damaging |
Het |
Cep162 |
A |
T |
9: 87,099,134 (GRCm39) |
L788* |
probably null |
Het |
Cyp7b1 |
T |
C |
3: 18,151,394 (GRCm39) |
Y273C |
probably damaging |
Het |
Dlx1 |
C |
A |
2: 71,361,353 (GRCm39) |
N122K |
probably damaging |
Het |
Dock10 |
A |
T |
1: 80,508,976 (GRCm39) |
I1605K |
probably damaging |
Het |
F3 |
T |
C |
3: 121,523,020 (GRCm39) |
S77P |
possibly damaging |
Het |
Fam186a |
T |
A |
15: 99,843,731 (GRCm39) |
I838L |
unknown |
Het |
Flrt2 |
T |
C |
12: 95,746,156 (GRCm39) |
F165L |
probably damaging |
Het |
Gcgr |
T |
A |
11: 120,427,295 (GRCm39) |
V135E |
possibly damaging |
Het |
Gm6741 |
T |
C |
17: 91,544,339 (GRCm39) |
L34P |
probably benign |
Het |
Gna13 |
T |
C |
11: 109,286,948 (GRCm39) |
M257T |
possibly damaging |
Het |
Hsd11b2 |
G |
A |
8: 106,248,949 (GRCm39) |
R147H |
probably benign |
Het |
Hydin |
A |
G |
8: 111,266,434 (GRCm39) |
Y2865C |
probably benign |
Het |
Igdcc3 |
A |
G |
9: 65,090,320 (GRCm39) |
N610D |
probably damaging |
Het |
Ipp |
T |
A |
4: 116,367,606 (GRCm39) |
|
probably null |
Het |
Kdm5d |
A |
G |
Y: 927,425 (GRCm39) |
T682A |
probably benign |
Het |
Megf8 |
A |
G |
7: 25,030,460 (GRCm39) |
Y471C |
probably benign |
Het |
Mprip |
T |
C |
11: 59,640,456 (GRCm39) |
|
probably null |
Het |
Mtres1 |
ACTGCACCACCT |
ACT |
10: 43,408,721 (GRCm39) |
|
probably benign |
Het |
Myrfl |
T |
A |
10: 116,684,187 (GRCm39) |
R179* |
probably null |
Het |
Nek1 |
C |
A |
8: 61,525,364 (GRCm39) |
Q601K |
possibly damaging |
Het |
Neurod4 |
C |
G |
10: 130,106,583 (GRCm39) |
K230N |
probably damaging |
Het |
Or1ab2 |
C |
T |
8: 72,863,707 (GRCm39) |
T99I |
possibly damaging |
Het |
Or8u10 |
A |
G |
2: 85,916,082 (GRCm39) |
I13T |
possibly damaging |
Het |
Orc3 |
A |
G |
4: 34,605,539 (GRCm39) |
L114P |
probably damaging |
Het |
Rag1 |
T |
C |
2: 101,472,292 (GRCm39) |
D950G |
probably damaging |
Het |
Rasgrp2 |
G |
A |
19: 6,463,213 (GRCm39) |
S504N |
probably benign |
Het |
Rgl2 |
A |
G |
17: 34,151,661 (GRCm39) |
D235G |
probably benign |
Het |
Slc35e2 |
A |
G |
4: 155,703,157 (GRCm39) |
E390G |
probably benign |
Het |
Slc39a1 |
T |
A |
3: 90,156,759 (GRCm39) |
V105E |
probably damaging |
Het |
Tesk2 |
T |
A |
4: 116,658,995 (GRCm39) |
C291S |
probably damaging |
Het |
Tmco3 |
T |
A |
8: 13,363,927 (GRCm39) |
F83Y |
probably damaging |
Het |
Trim25 |
T |
C |
11: 88,901,713 (GRCm39) |
I336T |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,643,170 (GRCm39) |
I4177M |
probably damaging |
Het |
Veph1 |
T |
A |
3: 66,162,458 (GRCm39) |
T67S |
probably damaging |
Het |
Vmn2r43 |
A |
G |
7: 8,258,125 (GRCm39) |
F363L |
probably benign |
Het |
Vps28 |
A |
T |
15: 76,506,871 (GRCm39) |
I109N |
probably damaging |
Het |
Vps50 |
A |
G |
6: 3,517,835 (GRCm39) |
D91G |
probably benign |
Het |
Wdr20 |
T |
C |
12: 110,760,133 (GRCm39) |
F340L |
probably benign |
Het |
Wdr95 |
A |
G |
5: 149,504,388 (GRCm39) |
|
probably null |
Het |
Zfand6 |
A |
G |
7: 84,265,122 (GRCm39) |
V193A |
probably damaging |
Het |
Zfp703 |
C |
A |
8: 27,468,668 (GRCm39) |
P111T |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCCACTTCTAAGAGGGAACAATG -3'
(R):5'- CACGCACTTGAGATGTACATTGC -3'
Sequencing Primer
(F):5'- AGGGAACAATGGCCTGTTTTATAG -3'
(R):5'- GCACTTGAGATGTACATTGCATAATC -3'
|
Posted On |
2018-10-18 |