Incidental Mutation 'R6174:Enox1'
| ID |
488217 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6174 (G1)
|
| Quality Score |
221.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
77394203-77959200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77745627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 41
(S41P)
|
| 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: S41P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022589
Gene: ENSMUSG00000022012
AA Change: S41P
| 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 |
noncoding transcript
Transcript: ENSMUST00000088880
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227662
AA Change: S41P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227831
AA Change: S41P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228102
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228148
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
T |
A |
6: 91,919,517 (GRCm39) |
D725E |
probably damaging |
Het |
| Bco1 |
T |
A |
8: 117,840,273 (GRCm39) |
Y264N |
probably damaging |
Het |
| Cd109 |
G |
A |
9: 78,572,828 (GRCm39) |
|
probably null |
Het |
| Cdc45 |
T |
C |
16: 18,613,454 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
A |
G |
2: 91,398,564 (GRCm39) |
E578G |
probably benign |
Het |
| Cracr2b |
T |
A |
7: 141,044,749 (GRCm39) |
L193Q |
probably damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,301,011 (GRCm39) |
L2367F |
probably damaging |
Het |
| Dop1b |
T |
G |
16: 93,563,110 (GRCm39) |
D871E |
probably damaging |
Het |
| Emc1 |
T |
C |
4: 139,093,842 (GRCm39) |
Y651H |
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,839,384 (GRCm39) |
Y399C |
probably damaging |
Het |
| Foxa1 |
A |
G |
12: 57,589,686 (GRCm39) |
L178P |
probably damaging |
Het |
| Gm57859 |
C |
A |
11: 113,579,801 (GRCm39) |
H399N |
possibly damaging |
Het |
| Grm7 |
T |
A |
6: 111,223,258 (GRCm39) |
Y433N |
probably benign |
Het |
| Gsta5 |
T |
A |
9: 78,211,737 (GRCm39) |
Y166* |
probably null |
Het |
| Gtf3c2 |
G |
A |
5: 31,315,555 (GRCm39) |
R813C |
probably damaging |
Het |
| H4c9 |
T |
A |
13: 22,225,247 (GRCm39) |
T83S |
probably benign |
Het |
| Hacd3 |
T |
C |
9: 64,912,909 (GRCm39) |
E117G |
probably damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,522,535 (GRCm39) |
T3455M |
probably benign |
Het |
| Itga6 |
A |
G |
2: 71,664,053 (GRCm39) |
I61V |
possibly damaging |
Het |
| Jaml |
T |
C |
9: 45,000,071 (GRCm39) |
L81P |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,499,874 (GRCm39) |
F782S |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,339,275 (GRCm39) |
H742R |
probably benign |
Het |
| Macrod2 |
G |
T |
2: 140,242,895 (GRCm39) |
M1I |
probably null |
Het |
| Mcf2l |
G |
A |
8: 13,063,849 (GRCm39) |
W1020* |
probably null |
Het |
| Msgn1 |
A |
G |
12: 11,258,924 (GRCm39) |
L9P |
probably damaging |
Het |
| Ngdn |
C |
A |
14: 55,259,556 (GRCm39) |
S202R |
probably benign |
Het |
| Notch1 |
C |
T |
2: 26,375,454 (GRCm39) |
G50R |
possibly damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,009 (GRCm39) |
D329E |
probably benign |
Het |
| Or1a1b |
A |
T |
11: 74,097,466 (GRCm39) |
I192N |
probably damaging |
Het |
| Or2d2b |
A |
T |
7: 106,705,714 (GRCm39) |
M118K |
probably damaging |
Het |
| Or5d14 |
A |
T |
2: 87,880,646 (GRCm39) |
C107* |
probably null |
Het |
| Osbpl10 |
A |
G |
9: 114,938,555 (GRCm39) |
S211G |
probably benign |
Het |
| Pabpc6 |
G |
A |
17: 9,887,084 (GRCm39) |
A489V |
probably benign |
Het |
| Pcdhb13 |
A |
T |
18: 37,576,474 (GRCm39) |
D284V |
possibly damaging |
Het |
| Pde6c |
T |
C |
19: 38,128,677 (GRCm39) |
S214P |
possibly damaging |
Het |
| Pofut1 |
C |
T |
2: 153,101,536 (GRCm39) |
H192Y |
probably damaging |
Het |
| Pou3f2 |
T |
C |
4: 22,486,960 (GRCm39) |
D391G |
possibly damaging |
Het |
| Prc1 |
G |
A |
7: 79,954,544 (GRCm39) |
S165N |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,414,883 (GRCm39) |
V304A |
probably benign |
Het |
| Ptpru |
T |
C |
4: 131,513,065 (GRCm39) |
I881V |
probably benign |
Het |
| Radil |
A |
G |
5: 142,472,870 (GRCm39) |
S847P |
probably benign |
Het |
| Rimklb |
A |
G |
6: 122,433,371 (GRCm39) |
S317P |
probably damaging |
Het |
| Sdhc |
A |
T |
1: 170,966,271 (GRCm39) |
L78* |
probably null |
Het |
| Skint6 |
T |
A |
4: 112,696,510 (GRCm39) |
I1042F |
possibly damaging |
Het |
| Slc1a6 |
T |
A |
10: 78,637,741 (GRCm39) |
D422E |
probably damaging |
Het |
| Slc29a1 |
A |
T |
17: 45,900,854 (GRCm39) |
H71Q |
probably damaging |
Het |
| Slfn14 |
A |
T |
11: 83,167,429 (GRCm39) |
D695E |
probably damaging |
Het |
| Spg11 |
A |
T |
2: 121,917,286 (GRCm39) |
|
probably null |
Het |
| Srgap2 |
A |
G |
1: 131,217,354 (GRCm39) |
V986A |
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,884,476 (GRCm39) |
C172* |
probably null |
Het |
| Tigd4 |
A |
G |
3: 84,502,574 (GRCm39) |
H497R |
probably benign |
Het |
| Ubn2 |
G |
A |
6: 38,438,471 (GRCm39) |
G60D |
probably damaging |
Het |
| Uckl1 |
C |
T |
2: 181,214,866 (GRCm39) |
|
probably null |
Het |
| Vmn2r24 |
A |
T |
6: 123,793,236 (GRCm39) |
K854N |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,701,763 (GRCm39) |
Q3193* |
probably null |
Het |
| Wdr26 |
G |
A |
1: 181,019,433 (GRCm39) |
L315F |
probably damaging |
Het |
| Zc3h8 |
C |
A |
2: 128,785,775 (GRCm39) |
E24* |
probably null |
Het |
| Zfp39 |
A |
G |
11: 58,782,213 (GRCm39) |
V183A |
probably benign |
Het |
| Zfp608 |
C |
A |
18: 55,121,616 (GRCm39) |
|
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCTGGAGAAATGATTGGCG -3'
(R):5'- CCATATTCAACACCGGCATGG -3'
Sequencing Primer
(F):5'- AATGATTGGCGTAGTATAGATTACGG -3'
(R):5'- CCGGCATGGAGGGAGATTACC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation