Incidental Mutation 'R5487:Noxo1'
| ID |
430432 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Noxo1
|
| Ensembl Gene |
ENSMUSG00000019320 |
| Gene Name |
NADPH oxidase organizer 1 |
| Synonyms |
2310034C04Rik |
| MMRRC Submission |
043048-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R5487 (G1)
|
| Quality Score |
210 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
24915208-24919503 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 24917291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019464]
[ENSMUST00000046839]
[ENSMUST00000126319]
|
| AlphaFold |
Q8VCM2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019464
|
| SMART Domains |
Protein: ENSMUSP00000019464
Gene: ENSMUSG00000019320
| Domain | Start | End | E-Value | Type |
|---|
|
PX
|
6 |
122 |
1.36e-2 |
SMART |
|
SH3
|
160 |
218 |
1.55e0 |
SMART |
|
SH3
|
234 |
289 |
1.8e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000046534
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046839
|
| SMART Domains |
Protein: ENSMUSP00000049186
Gene: ENSMUSG00000040888
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
54 |
N/A |
INTRINSIC |
|
Pfam:Evr1_Alr
|
97 |
189 |
2.6e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123026
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124864
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126319
|
| SMART Domains |
Protein: ENSMUSP00000120911
Gene: ENSMUSG00000040688
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
54 |
94 |
3.08e0 |
SMART |
|
WD40
|
97 |
137 |
2.38e-6 |
SMART |
|
WD40
|
140 |
181 |
3.85e-1 |
SMART |
|
WD40
|
184 |
223 |
6.94e-8 |
SMART |
|
WD40
|
237 |
275 |
7.36e1 |
SMART |
|
WD40
|
278 |
320 |
3.07e1 |
SMART |
|
WD40
|
323 |
363 |
1.78e0 |
SMART |
|
WD40
|
365 |
404 |
1.17e-5 |
SMART |
|
WD40
|
410 |
450 |
8.16e-5 |
SMART |
|
WD40
|
468 |
507 |
5.18e-7 |
SMART |
|
WD40
|
510 |
549 |
8.1e-9 |
SMART |
|
WD40
|
552 |
591 |
8.55e-8 |
SMART |
|
WD40
|
594 |
633 |
2.93e-6 |
SMART |
|
low complexity region
|
637 |
650 |
N/A |
INTRINSIC |
|
Pfam:Utp13
|
654 |
788 |
3.7e-43 |
PFAM |
|
low complexity region
|
792 |
800 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126342
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152527
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141095
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141522
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150313
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149326
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150132
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130633
|
| SMART Domains |
Protein: ENSMUSP00000117818
Gene: ENSMUSG00000040688
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
2 |
38 |
8.75e-5 |
SMART |
|
WD40
|
41 |
80 |
8.1e-9 |
SMART |
|
WD40
|
90 |
129 |
9.52e-6 |
SMART |
|
WD40
|
132 |
171 |
2.93e-6 |
SMART |
|
low complexity region
|
175 |
188 |
N/A |
INTRINSIC |
|
Pfam:Utp13
|
192 |
299 |
1e-30 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.6%
- 20x: 89.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an NADPH oxidase (NOX) organizer, which positively regulates NOX1 and NOX3. The protein contains a PX domain and two SH3 domains. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mutations at this locus affect the inner ear and result in vestibular related movement anomalies. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
G |
11: 109,844,340 (GRCm39) |
V959A |
probably damaging |
Het |
| Alg3 |
A |
T |
16: 20,426,530 (GRCm39) |
I115N |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,888,733 (GRCm39) |
D204G |
probably benign |
Het |
| Camta1 |
C |
A |
4: 151,229,211 (GRCm39) |
E540D |
possibly damaging |
Het |
| Cblc |
T |
C |
7: 19,518,733 (GRCm39) |
T413A |
probably benign |
Het |
| Ccdc122 |
T |
A |
14: 77,329,119 (GRCm39) |
H57Q |
probably benign |
Het |
| Ccdc85a |
A |
T |
11: 28,526,768 (GRCm39) |
L280* |
probably null |
Het |
| Cd46 |
T |
G |
1: 194,750,478 (GRCm39) |
|
probably null |
Het |
| Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
| Dnaaf3 |
T |
C |
7: 4,526,864 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Ecpas |
T |
C |
4: 58,809,421 (GRCm39) |
D1651G |
probably benign |
Het |
| Eif2ak1 |
A |
G |
5: 143,833,981 (GRCm39) |
|
probably null |
Het |
| Erich4 |
A |
G |
7: 25,314,664 (GRCm39) |
M83T |
probably benign |
Het |
| Fbxo24 |
C |
T |
5: 137,617,094 (GRCm39) |
G331E |
possibly damaging |
Het |
| Fzd4 |
A |
G |
7: 89,056,615 (GRCm39) |
I221V |
probably benign |
Het |
| G6pc2 |
T |
C |
2: 69,056,921 (GRCm39) |
V189A |
probably damaging |
Het |
| Gm10663 |
A |
C |
8: 65,527,686 (GRCm39) |
E1A |
probably null |
Het |
| Gm4871 |
C |
A |
5: 144,967,199 (GRCm39) |
E178D |
probably damaging |
Het |
| Igdcc3 |
A |
G |
9: 65,088,866 (GRCm39) |
E415G |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,733,272 (GRCm39) |
|
probably benign |
Het |
| Krba1 |
T |
C |
6: 48,380,973 (GRCm39) |
V103A |
probably damaging |
Het |
| Lcat |
T |
C |
8: 106,666,296 (GRCm39) |
K409E |
probably benign |
Het |
| Lrriq4 |
C |
A |
3: 30,714,144 (GRCm39) |
N497K |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,919,842 (GRCm39) |
T451A |
probably damaging |
Het |
| Oas1a |
A |
G |
5: 121,045,490 (GRCm39) |
I17T |
probably damaging |
Het |
| Otog |
A |
T |
7: 45,938,192 (GRCm39) |
Y1967F |
probably benign |
Het |
| Pcdha9 |
A |
T |
18: 37,132,703 (GRCm39) |
N591Y |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,494,218 (GRCm39) |
Y133H |
probably damaging |
Het |
| Pou5f2 |
T |
C |
13: 78,173,118 (GRCm39) |
L20P |
probably benign |
Het |
| Prkcb |
T |
A |
7: 122,199,948 (GRCm39) |
C586* |
probably null |
Het |
| Sema3b |
A |
T |
9: 107,478,161 (GRCm39) |
M408K |
probably damaging |
Het |
| Serpinf2 |
G |
A |
11: 75,324,031 (GRCm39) |
T332I |
probably damaging |
Het |
| Tmbim1 |
A |
G |
1: 74,332,164 (GRCm39) |
V121A |
probably benign |
Het |
| Tph2 |
C |
T |
10: 114,955,779 (GRCm39) |
G338D |
probably damaging |
Het |
| Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,642,896 (GRCm39) |
V13247M |
probably damaging |
Het |
| Uty |
C |
T |
Y: 1,174,825 (GRCm39) |
G192R |
probably damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,595,529 (GRCm39) |
P385Q |
possibly damaging |
Het |
| Wdfy3 |
G |
A |
5: 101,984,140 (GRCm39) |
R3489W |
probably damaging |
Het |
| Zfp750 |
A |
G |
11: 121,404,558 (GRCm39) |
S106P |
probably benign |
Het |
|
| Other mutations in Noxo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Noxo1
|
APN |
17 |
24,917,910 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02441:Noxo1
|
APN |
17 |
24,918,030 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02549:Noxo1
|
APN |
17 |
24,919,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02881:Noxo1
|
APN |
17 |
24,918,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02881:Noxo1
|
APN |
17 |
24,918,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
fabregas
|
UTSW |
17 |
24,918,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0276:Noxo1
|
UTSW |
17 |
24,919,136 (GRCm39) |
splice site |
probably null |
|
|
R4326:Noxo1
|
UTSW |
17 |
24,917,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5080:Noxo1
|
UTSW |
17 |
24,918,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5854:Noxo1
|
UTSW |
17 |
24,917,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6119:Noxo1
|
UTSW |
17 |
24,915,545 (GRCm39) |
unclassified |
probably benign |
|
|
R7889:Noxo1
|
UTSW |
17 |
24,918,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9224:Noxo1
|
UTSW |
17 |
24,919,305 (GRCm39) |
missense |
probably benign |
|
|
R9765:Noxo1
|
UTSW |
17 |
24,915,386 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTCTTGTACAAAGGGCC -3'
(R):5'- AGGCAAATGTCTGTGTGAGG -3'
Sequencing Primer
(F):5'- ACAGTCTTGTACAAAGGGCCTTTTC -3'
(R):5'- AAGGTAGAGGCGACATCTCCTTC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation