Incidental Mutation 'R1350:Nox3'
| ID |
159547 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nox3
|
| Ensembl Gene |
ENSMUSG00000023802 |
| Gene Name |
NADPH oxidase 3 |
| Synonyms |
het, nmf250 |
| MMRRC Submission |
039415-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.327)
|
| Stock # |
R1350 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
3685515-3746536 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3700396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 439
(F439S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115800]
|
| AlphaFold |
Q672J9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024565
AA Change: F459S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000024565
Gene: ENSMUSG00000023802
AA Change: F459S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
|
Pfam:Ferric_reduct
|
75 |
238 |
8.6e-28 |
PFAM |
|
Pfam:FAD_binding_8
|
311 |
413 |
4.1e-26 |
PFAM |
|
Pfam:NAD_binding_6
|
419 |
569 |
1e-33 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115800
AA Change: F439S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111466
Gene: ENSMUSG00000023802
AA Change: F439S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Ferric_reduct
|
55 |
218 |
5.4e-23 |
PFAM |
|
Pfam:FAD_binding_6
|
290 |
379 |
1.8e-8 |
PFAM |
|
Pfam:FAD_binding_8
|
291 |
393 |
1.5e-27 |
PFAM |
|
Pfam:NAD_binding_6
|
399 |
549 |
1e-34 |
PFAM |
|
| Meta Mutation Damage Score |
0.7939 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.1%
|
| Validation Efficiency |
95% (57/60) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the NOX family of NADPH oxidases. These enzymes catalyze the transfer of electrons from NADPH to molecular oxygen to produce superoxide and other reactive oxygen species (ROS). The ROS generated by family members have been implicated in numerous biological functions including host defense, posttranlational processing of proteins, cellular signaling, regulation of gene expression, and cell differentiation. The protein encoded by this gene is expressed predominantly in the inner ear and is involved in the biogenesis of otoconia, which are crystalline structures of the inner ear involved in the perception of gravity and linear acceleration. In mouse mutations of this gene lead to the absence of otoconia and vestibular dysfunction. [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygous mutants bilaterally lack otoliths in otherwise normal ears and display impaired swimming ability, motor capabilities, and vestibular responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago4 |
A |
G |
4: 126,400,925 (GRCm39) |
V640A |
probably benign |
Het |
| AI661453 |
C |
T |
17: 47,778,853 (GRCm39) |
Q860* |
probably null |
Het |
| Atp10d |
A |
G |
5: 72,418,469 (GRCm39) |
|
probably benign |
Het |
| Axdnd1 |
A |
G |
1: 156,205,950 (GRCm39) |
|
probably null |
Het |
| Bivm |
T |
A |
1: 44,165,863 (GRCm39) |
N104K |
possibly damaging |
Het |
| Capn15 |
A |
G |
17: 26,183,666 (GRCm39) |
S338P |
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Ccn6 |
C |
T |
10: 39,034,302 (GRCm39) |
C100Y |
probably damaging |
Het |
| Col13a1 |
G |
A |
10: 61,729,848 (GRCm39) |
|
probably benign |
Het |
| Crb2 |
A |
G |
2: 37,682,081 (GRCm39) |
N821D |
probably damaging |
Het |
| D5Ertd579e |
T |
A |
5: 36,771,081 (GRCm39) |
I1105F |
probably damaging |
Het |
| Dnaja2 |
A |
T |
8: 86,266,717 (GRCm39) |
F337I |
probably damaging |
Het |
| Dntt |
C |
T |
19: 41,025,578 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
C |
T |
9: 106,791,831 (GRCm39) |
E1381K |
possibly damaging |
Het |
| Fibp |
T |
C |
19: 5,511,419 (GRCm39) |
Y96H |
probably damaging |
Het |
| Garnl3 |
A |
G |
2: 32,942,226 (GRCm39) |
V85A |
probably damaging |
Het |
| Gsdme |
A |
T |
6: 50,223,108 (GRCm39) |
|
probably null |
Het |
| Gucy2c |
A |
T |
6: 136,720,912 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
A |
G |
12: 51,809,217 (GRCm39) |
V1748A |
probably benign |
Het |
| Hepacam2 |
G |
A |
6: 3,467,530 (GRCm39) |
Q384* |
probably null |
Het |
| Itga10 |
T |
A |
3: 96,564,793 (GRCm39) |
M961K |
probably benign |
Het |
| Kcnk1 |
C |
T |
8: 126,751,967 (GRCm39) |
T191I |
probably benign |
Het |
| Khdrbs1 |
G |
A |
4: 129,614,545 (GRCm39) |
P336L |
probably benign |
Het |
| Klhdc2 |
T |
A |
12: 69,352,484 (GRCm39) |
|
probably null |
Het |
| Lipc |
T |
C |
9: 70,705,649 (GRCm39) |
H478R |
probably benign |
Het |
| Lrp12 |
A |
T |
15: 39,741,646 (GRCm39) |
C356* |
probably null |
Het |
| Nf1 |
T |
A |
11: 79,303,513 (GRCm39) |
C397S |
probably damaging |
Het |
| Or12e9 |
T |
A |
2: 87,202,701 (GRCm39) |
V275E |
probably benign |
Het |
| Or13a18 |
T |
C |
7: 140,190,622 (GRCm39) |
V181A |
probably damaging |
Het |
| Or3a1b |
T |
C |
11: 74,013,039 (GRCm39) |
L308P |
possibly damaging |
Het |
| Or4b12 |
A |
T |
2: 90,096,690 (GRCm39) |
L28Q |
probably damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,937 (GRCm39) |
W2R |
probably benign |
Het |
| Or7g29 |
T |
G |
9: 19,286,710 (GRCm39) |
S156R |
possibly damaging |
Het |
| Or8b37 |
G |
A |
9: 37,959,111 (GRCm39) |
V198I |
probably benign |
Het |
| Pcif1 |
T |
C |
2: 164,728,687 (GRCm39) |
F288L |
probably damaging |
Het |
| Prxl2b |
C |
A |
4: 154,982,585 (GRCm39) |
R107L |
probably damaging |
Het |
| Skint7 |
G |
T |
4: 111,837,521 (GRCm39) |
A100S |
possibly damaging |
Het |
| Ssu2 |
A |
T |
6: 112,351,807 (GRCm39) |
L306* |
probably null |
Het |
| Tasp1 |
T |
C |
2: 139,899,341 (GRCm39) |
E4G |
probably damaging |
Het |
| Tfb1m |
A |
T |
17: 3,595,955 (GRCm39) |
D99E |
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,544,198 (GRCm39) |
|
probably null |
Het |
| Uox |
A |
G |
3: 146,330,330 (GRCm39) |
D162G |
probably damaging |
Het |
| Usp18 |
A |
G |
6: 121,239,651 (GRCm39) |
T249A |
possibly damaging |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,886 (GRCm39) |
N177S |
probably benign |
Het |
| Vwa2 |
T |
A |
19: 56,897,558 (GRCm39) |
M621K |
probably damaging |
Het |
| Wdfy3 |
C |
A |
5: 102,046,418 (GRCm39) |
D1797Y |
probably damaging |
Het |
| Ylpm1 |
A |
T |
12: 85,060,856 (GRCm39) |
|
probably benign |
Het |
| Zbtb9 |
G |
A |
17: 27,193,380 (GRCm39) |
V262I |
probably benign |
Het |
|
| Other mutations in Nox3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01024:Nox3
|
APN |
17 |
3,733,290 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01135:Nox3
|
APN |
17 |
3,746,527 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01791:Nox3
|
APN |
17 |
3,733,218 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02423:Nox3
|
APN |
17 |
3,733,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03091:Nox3
|
APN |
17 |
3,716,119 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0046:Nox3
|
UTSW |
17 |
3,733,236 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0046:Nox3
|
UTSW |
17 |
3,733,236 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0085:Nox3
|
UTSW |
17 |
3,685,556 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0426:Nox3
|
UTSW |
17 |
3,745,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0690:Nox3
|
UTSW |
17 |
3,745,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1281:Nox3
|
UTSW |
17 |
3,746,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1843:Nox3
|
UTSW |
17 |
3,720,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Nox3
|
UTSW |
17 |
3,720,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2023:Nox3
|
UTSW |
17 |
3,744,296 (GRCm39) |
splice site |
probably benign |
|
|
R2762:Nox3
|
UTSW |
17 |
3,746,433 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2872:Nox3
|
UTSW |
17 |
3,733,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Nox3
|
UTSW |
17 |
3,733,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4429:Nox3
|
UTSW |
17 |
3,733,233 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4630:Nox3
|
UTSW |
17 |
3,744,257 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4926:Nox3
|
UTSW |
17 |
3,720,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Nox3
|
UTSW |
17 |
3,685,550 (GRCm39) |
missense |
probably null |
1.00 |
|
R5181:Nox3
|
UTSW |
17 |
3,685,561 (GRCm39) |
nonsense |
probably null |
|
|
R6911:Nox3
|
UTSW |
17 |
3,736,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6912:Nox3
|
UTSW |
17 |
3,736,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7486:Nox3
|
UTSW |
17 |
3,720,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7529:Nox3
|
UTSW |
17 |
3,722,050 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8355:Nox3
|
UTSW |
17 |
3,736,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8357:Nox3
|
UTSW |
17 |
3,736,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8455:Nox3
|
UTSW |
17 |
3,736,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8457:Nox3
|
UTSW |
17 |
3,736,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9028:Nox3
|
UTSW |
17 |
3,716,185 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9128:Nox3
|
UTSW |
17 |
3,720,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9581:Nox3
|
UTSW |
17 |
3,700,328 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9780:Nox3
|
UTSW |
17 |
3,736,260 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAAGCAGTAATGGAGATCCTCGG -3'
(R):5'- GCTTGTCCAGAAGCTCGGAAAGTTG -3'
Sequencing Primer
(F):5'- ATGGAGATCCTCGGTTTTTCTGATAC -3'
(R):5'- CAGAAGCTCGGAAAGTTGATTCTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation