Incidental Mutation 'IGL02952:Noxa1'
| ID |
364950 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Noxa1
|
| Ensembl Gene |
ENSMUSG00000036805 |
| Gene Name |
NADPH oxidase activator 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02952
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
24975679-24985161 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24981773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 110
(Y110C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110014
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044018]
[ENSMUST00000114373]
|
| AlphaFold |
Q8CJ00 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044018
AA Change: Y110C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037423
Gene: ENSMUSG00000036805
AA Change: Y110C
| 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 damaging
Transcript: ENSMUST00000114373
AA Change: Y110C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110014
Gene: ENSMUSG00000036805
AA Change: Y110C
| 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 |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,654,984 (GRCm39) |
D1436V |
probably damaging |
Het |
| Abca7 |
G |
T |
10: 79,843,242 (GRCm39) |
R1239L |
probably damaging |
Het |
| Acp2 |
T |
C |
2: 91,038,788 (GRCm39) |
|
probably benign |
Het |
| Adamts4 |
A |
G |
1: 171,078,917 (GRCm39) |
N179S |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,581,755 (GRCm39) |
D4763G |
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,882,844 (GRCm39) |
V633A |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,461,338 (GRCm39) |
I342K |
probably damaging |
Het |
| Capn10 |
T |
C |
1: 92,872,896 (GRCm39) |
S541P |
probably damaging |
Het |
| Ccnf |
A |
G |
17: 24,450,299 (GRCm39) |
L462P |
possibly damaging |
Het |
| Cdc27 |
T |
C |
11: 104,408,290 (GRCm39) |
Y546C |
probably damaging |
Het |
| Cep120 |
G |
T |
18: 53,816,300 (GRCm39) |
|
probably benign |
Het |
| Cetn2 |
T |
C |
X: 71,957,808 (GRCm39) |
|
probably null |
Het |
| Cyp1a1 |
C |
T |
9: 57,609,993 (GRCm39) |
S469L |
probably benign |
Het |
| Dnah17 |
G |
A |
11: 117,979,094 (GRCm39) |
T1766I |
probably benign |
Het |
| Doc2g |
G |
A |
19: 4,056,719 (GRCm39) |
G345D |
possibly damaging |
Het |
| Dock4 |
T |
C |
12: 40,760,902 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
A |
9: 86,414,975 (GRCm39) |
|
probably benign |
Het |
| Emilin2 |
C |
A |
17: 71,587,816 (GRCm39) |
V99F |
probably damaging |
Het |
| Exoc8 |
A |
G |
8: 125,624,275 (GRCm39) |
S31P |
probably benign |
Het |
| Gask1b |
T |
C |
3: 79,793,646 (GRCm39) |
L38P |
probably damaging |
Het |
| Gm3115 |
T |
C |
14: 4,084,302 (GRCm38) |
|
probably benign |
Het |
| Gm9742 |
T |
A |
13: 8,079,930 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr160 |
T |
C |
3: 30,950,443 (GRCm39) |
Y172H |
probably benign |
Het |
| Ifnk |
T |
A |
4: 35,152,495 (GRCm39) |
L141Q |
probably damaging |
Het |
| Klhl36 |
A |
G |
8: 120,597,223 (GRCm39) |
E308G |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,396,715 (GRCm39) |
I450M |
probably benign |
Het |
| Or10ad1 |
T |
C |
15: 98,105,470 (GRCm39) |
Y265C |
probably damaging |
Het |
| Pkd2 |
A |
T |
5: 104,628,026 (GRCm39) |
T367S |
possibly damaging |
Het |
| Polg2 |
T |
C |
11: 106,663,539 (GRCm39) |
I385V |
possibly damaging |
Het |
| Ppp1r14bl |
A |
T |
1: 23,141,071 (GRCm39) |
I81N |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,993,014 (GRCm39) |
S17P |
unknown |
Het |
| Prss22 |
C |
A |
17: 24,215,697 (GRCm39) |
C75F |
probably damaging |
Het |
| Ptgs1 |
A |
G |
2: 36,141,253 (GRCm39) |
K567E |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,036,925 (GRCm39) |
I1141M |
probably damaging |
Het |
| R3hcc1l |
A |
G |
19: 42,552,433 (GRCm39) |
K477E |
probably damaging |
Het |
| Riok1 |
A |
G |
13: 38,232,866 (GRCm39) |
Y194C |
probably damaging |
Het |
| Smr2 |
T |
A |
5: 88,236,095 (GRCm39) |
C16S |
possibly damaging |
Het |
| Stk25 |
A |
T |
1: 93,553,798 (GRCm39) |
I187N |
probably damaging |
Het |
| Trhde |
T |
C |
10: 114,636,478 (GRCm39) |
E243G |
probably damaging |
Het |
| Vmn2r3 |
T |
C |
3: 64,186,256 (GRCm39) |
E143G |
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 |
|
|
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 |
|
R9783:Noxa1
|
UTSW |
2 |
24,985,053 (GRCm39) |
start gained |
probably benign |
|
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation