Incidental Mutation 'R9783:Noxa1'
| ID |
734148 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Noxa1
|
| Ensembl Gene |
ENSMUSG00000036805 |
| Gene Name |
NADPH oxidase activator 1 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9783 (G1)
|
| Quality Score |
155.008 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
24975679-24985161 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
C to A
at 24985053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110014
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044018]
[ENSMUST00000114373]
|
| AlphaFold |
Q8CJ00 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044018
|
| SMART Domains |
Protein: ENSMUSP00000037423
Gene: ENSMUSG00000036805
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
38 |
71 |
8.17e-1 |
SMART |
|
TPR
|
72 |
105 |
1.47e-2 |
SMART |
|
TPR
|
122 |
155 |
1.97e1 |
SMART |
|
low complexity region
|
166 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
274 |
N/A |
INTRINSIC |
|
PB1
|
285 |
365 |
6.76e-9 |
SMART |
|
SH3
|
372 |
427 |
1.81e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114373
|
| SMART Domains |
Protein: ENSMUSP00000110014
Gene: ENSMUSG00000036805
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
38 |
71 |
8.17e-1 |
SMART |
|
TPR
|
72 |
105 |
1.47e-2 |
SMART |
|
TPR
|
122 |
155 |
1.97e1 |
SMART |
|
low complexity region
|
166 |
180 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
266 |
N/A |
INTRINSIC |
|
PB1
|
277 |
357 |
6.76e-9 |
SMART |
|
SH3
|
364 |
419 |
1.81e-14 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which activates NADPH oxidases, enzymes which catalyze a reaction generating reactive oxygen species. The encoded protein contains four N-terminal tetratricopeptide domains and a C-terminal Src homology 3 domain. Interaction between the encoded protein and proteins in the oxidase regulatory complex occur via the tetratricopeptide domains. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a targeted allele removing exons 3 through 6 exhibit no overt phenotypic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdkn2aip |
A |
G |
8: 48,164,090 (GRCm39) |
V541A |
possibly damaging |
Het |
| Cep170b |
C |
A |
12: 112,711,118 (GRCm39) |
D1499E |
probably damaging |
Het |
| Cers2 |
T |
C |
3: 95,229,438 (GRCm39) |
S248P |
probably benign |
Het |
| Chd5 |
T |
A |
4: 152,458,865 (GRCm39) |
I1076N |
probably damaging |
Het |
| Col6a2 |
T |
C |
10: 76,440,720 (GRCm39) |
|
probably null |
Het |
| D6Ertd527e |
G |
A |
6: 87,088,602 (GRCm39) |
G255D |
unknown |
Het |
| Dennd5b |
T |
C |
6: 148,911,342 (GRCm39) |
T954A |
probably damaging |
Het |
| Dmc1 |
A |
G |
15: 79,484,296 (GRCm39) |
L65P |
probably damaging |
Het |
| Dock2 |
A |
G |
11: 34,208,128 (GRCm39) |
Y1307H |
possibly damaging |
Het |
| Gckr |
G |
A |
5: 31,466,399 (GRCm39) |
S458N |
probably benign |
Het |
| Gpx4 |
T |
C |
10: 79,890,851 (GRCm39) |
V181A |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,598,380 (GRCm39) |
E1641K |
probably benign |
Het |
| Htr7 |
A |
G |
19: 35,946,787 (GRCm39) |
I409T |
probably damaging |
Het |
| Ighv8-9 |
C |
T |
12: 115,431,994 (GRCm39) |
V106M |
probably benign |
Het |
| Kri1 |
T |
C |
9: 21,190,709 (GRCm39) |
E384G |
|
Het |
| Lyz3 |
T |
C |
10: 117,073,653 (GRCm39) |
N60S |
possibly damaging |
Het |
| Mfhas1 |
T |
C |
8: 36,057,934 (GRCm39) |
L803P |
probably damaging |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Or1j16 |
A |
G |
2: 36,530,161 (GRCm39) |
T37A |
probably benign |
Het |
| Or5d38 |
A |
T |
2: 87,954,610 (GRCm39) |
F240I |
probably benign |
Het |
| Otof |
T |
C |
5: 30,536,576 (GRCm39) |
K1302E |
probably benign |
Het |
| Pdcl |
A |
G |
2: 37,242,174 (GRCm39) |
V192A |
probably benign |
Het |
| Plxdc2 |
C |
T |
2: 16,674,349 (GRCm39) |
Q310* |
probably null |
Het |
| Pola2 |
C |
T |
19: 5,990,904 (GRCm39) |
V597M |
probably damaging |
Het |
| Prkcd |
T |
A |
14: 30,321,444 (GRCm39) |
Y549F |
probably damaging |
Het |
| Rho |
T |
C |
6: 115,910,920 (GRCm39) |
M155T |
probably benign |
Het |
| Scap |
C |
T |
9: 110,202,132 (GRCm39) |
H167Y |
probably benign |
Het |
| Sfn |
T |
C |
4: 133,329,128 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Slc13a2 |
T |
A |
11: 78,294,177 (GRCm39) |
T235S |
probably damaging |
Het |
| Slc40a1 |
A |
G |
1: 45,951,513 (GRCm39) |
S215P |
probably damaging |
Het |
| Spam1 |
G |
A |
6: 24,796,226 (GRCm39) |
R59H |
probably benign |
Het |
| Tmeff1 |
T |
C |
4: 48,662,005 (GRCm39) |
C347R |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,887,890 (GRCm39) |
|
probably benign |
Het |
| Ugt2b37 |
G |
T |
5: 87,388,840 (GRCm39) |
L458M |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,392,227 (GRCm39) |
I2042F |
probably benign |
Het |
| Zfp12 |
C |
A |
5: 143,230,513 (GRCm39) |
T312K |
probably damaging |
Het |
|
| Other mutations in Noxa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Noxa1
|
APN |
2 |
24,984,914 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01316:Noxa1
|
APN |
2 |
24,976,023 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02274:Noxa1
|
APN |
2 |
24,975,767 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02528:Noxa1
|
APN |
2 |
24,980,645 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02952:Noxa1
|
APN |
2 |
24,981,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03286:Noxa1
|
APN |
2 |
24,975,732 (GRCm39) |
splice site |
probably null |
|
|
IGL03330:Noxa1
|
APN |
2 |
24,980,526 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0322:Noxa1
|
UTSW |
2 |
24,982,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0357:Noxa1
|
UTSW |
2 |
24,975,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0636:Noxa1
|
UTSW |
2 |
24,976,106 (GRCm39) |
unclassified |
probably benign |
|
|
R0909:Noxa1
|
UTSW |
2 |
24,981,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1459:Noxa1
|
UTSW |
2 |
24,982,558 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1702:Noxa1
|
UTSW |
2 |
24,982,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1958:Noxa1
|
UTSW |
2 |
24,980,620 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4618:Noxa1
|
UTSW |
2 |
24,981,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5104:Noxa1
|
UTSW |
2 |
24,976,246 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5606:Noxa1
|
UTSW |
2 |
24,976,292 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5619:Noxa1
|
UTSW |
2 |
24,975,988 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5826:Noxa1
|
UTSW |
2 |
24,976,253 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6076:Noxa1
|
UTSW |
2 |
24,975,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6920:Noxa1
|
UTSW |
2 |
24,981,844 (GRCm39) |
splice site |
probably null |
|
|
R8112:Noxa1
|
UTSW |
2 |
24,982,553 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8794:Noxa1
|
UTSW |
2 |
24,984,852 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0021:Noxa1
|
UTSW |
2 |
24,980,226 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0025:Noxa1
|
UTSW |
2 |
24,980,503 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Noxa1
|
UTSW |
2 |
24,980,285 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGAGAAGAAGCACAGCGC -3'
(R):5'- ACAGATAGGCCTGACGAATGC -3'
Sequencing Primer
(F):5'- AGAGTCCCAGTCTTCGCGTG -3'
(R):5'- CCTGACGAATGCAGGGGTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation