Incidental Mutation 'R7738:Enox1'
| ID |
596388 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Enox1
|
| Ensembl Gene |
ENSMUSG00000022012 |
| Gene Name |
ecto-NOX disulfide-thiol exchanger 1 |
| Synonyms |
D230005D02Rik |
| MMRRC Submission |
045794-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7738 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
77394203-77959200 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 77815220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 126
(N126T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022589
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022589]
[ENSMUST00000227662]
[ENSMUST00000227831]
|
| AlphaFold |
Q8BHR2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022589
AA Change: N126T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022589
Gene: ENSMUSG00000022012
AA Change: N126T
| 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: N126T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227831
AA Change: N126T
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkal1 |
T |
A |
1: 6,459,728 (GRCm39) |
D101E |
probably benign |
Het |
| Ank2 |
C |
T |
3: 126,741,271 (GRCm39) |
A1538T |
|
Het |
| Arhgap21 |
A |
G |
2: 20,854,290 (GRCm39) |
S1701P |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,855,169 (GRCm39) |
Y1408H |
probably damaging |
Het |
| Armc3 |
A |
T |
2: 19,293,761 (GRCm39) |
L517F |
probably damaging |
Het |
| Cep57l1 |
T |
A |
10: 41,616,842 (GRCm39) |
E148D |
probably damaging |
Het |
| Clstn1 |
A |
C |
4: 149,719,811 (GRCm39) |
Q452P |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 16,151,004 (GRCm39) |
R1437L |
probably damaging |
Het |
| Dcbld1 |
C |
T |
10: 52,188,922 (GRCm39) |
T249I |
possibly damaging |
Het |
| Dsp |
A |
G |
13: 38,369,151 (GRCm39) |
E749G |
probably damaging |
Het |
| Fgfr1 |
T |
A |
8: 26,048,201 (GRCm39) |
L99Q |
probably damaging |
Het |
| Fscn3 |
G |
A |
6: 28,434,445 (GRCm39) |
R340Q |
probably benign |
Het |
| Glrb |
C |
T |
3: 80,767,491 (GRCm39) |
C243Y |
probably damaging |
Het |
| Gpld1 |
A |
T |
13: 25,146,305 (GRCm39) |
Y183F |
probably damaging |
Het |
| Has2 |
T |
C |
15: 56,531,108 (GRCm39) |
K536E |
possibly damaging |
Het |
| Igtp |
A |
G |
11: 58,097,906 (GRCm39) |
E359G |
probably benign |
Het |
| Kat14 |
A |
G |
2: 144,236,162 (GRCm39) |
D509G |
probably damaging |
Het |
| Kbtbd2 |
C |
A |
6: 56,756,722 (GRCm39) |
S338I |
possibly damaging |
Het |
| Mpdz |
A |
G |
4: 81,253,986 (GRCm39) |
S1049P |
probably benign |
Het |
| Ncoa3 |
C |
T |
2: 165,891,987 (GRCm39) |
A121V |
probably damaging |
Het |
| Nfatc4 |
A |
G |
14: 56,069,414 (GRCm39) |
T647A |
possibly damaging |
Het |
| Nip7 |
T |
C |
8: 107,783,997 (GRCm39) |
F79S |
probably damaging |
Het |
| Nrxn3 |
A |
C |
12: 88,817,074 (GRCm39) |
E251D |
possibly damaging |
Het |
| Olig2 |
T |
C |
16: 91,024,048 (GRCm39) |
I254T |
unknown |
Het |
| Or55b4 |
C |
A |
7: 102,133,818 (GRCm39) |
V170F |
probably damaging |
Het |
| Or5ac16 |
G |
A |
16: 59,022,318 (GRCm39) |
A157V |
probably benign |
Het |
| Ostf1 |
A |
T |
19: 18,562,065 (GRCm39) |
L177* |
probably null |
Het |
| Pabpc2 |
A |
T |
18: 39,907,319 (GRCm39) |
I195F |
possibly damaging |
Het |
| Pacs1 |
A |
T |
19: 5,202,378 (GRCm39) |
M404K |
probably benign |
Het |
| Pcdh1 |
A |
G |
18: 38,330,529 (GRCm39) |
S964P |
probably benign |
Het |
| Pcdhb3 |
T |
A |
18: 37,436,012 (GRCm39) |
N659K |
probably benign |
Het |
| Pla2g6 |
A |
T |
15: 79,181,633 (GRCm39) |
Y537* |
probably null |
Het |
| Plekhn1 |
G |
A |
4: 156,316,691 (GRCm39) |
T330M |
probably damaging |
Het |
| Proc |
G |
A |
18: 32,260,532 (GRCm39) |
R198* |
probably null |
Het |
| Rfx8 |
G |
T |
1: 39,722,091 (GRCm39) |
T298K |
probably damaging |
Het |
| S1pr4 |
A |
C |
10: 81,334,341 (GRCm39) |
S378A |
probably benign |
Het |
| Saxo5 |
T |
C |
8: 3,533,525 (GRCm39) |
F277S |
probably damaging |
Het |
| Slfn2 |
T |
A |
11: 82,960,799 (GRCm39) |
F259L |
probably damaging |
Het |
| Snx14 |
T |
C |
9: 88,289,527 (GRCm39) |
T242A |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,774,153 (GRCm39) |
N68S |
probably damaging |
Het |
| Tmem44 |
A |
T |
16: 30,362,228 (GRCm39) |
S201T |
probably benign |
Het |
| Ttc3 |
A |
T |
16: 94,188,241 (GRCm39) |
I177L |
probably benign |
Het |
| Vmn1r177 |
T |
C |
7: 23,565,559 (GRCm39) |
T106A |
probably damaging |
Het |
| Vmn1r28 |
T |
C |
6: 58,243,039 (GRCm39) |
M294T |
probably benign |
Het |
| Zfp518b |
G |
A |
5: 38,829,530 (GRCm39) |
T825I |
probably benign |
Het |
| Zfp729b |
A |
T |
13: 67,740,194 (GRCm39) |
N690K |
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 |
|
|
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 |
|
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'- AACCAACGTGTTGTCTTGTATGC -3'
(R):5'- ATAAACTCTCCGAGCTCACTG -3'
Sequencing Primer
(F):5'- GTTGTCTTGTATGCTTTCACAGAC -3'
(R):5'- GAGCTCACTGGCTTCATGGTAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation