Incidental Mutation 'IGL01316:Noxa1'
| ID |
73844 |
| 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 # |
IGL01316
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
24975679-24985161 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24976023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 389
(D389G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044018]
[ENSMUST00000044078]
[ENSMUST00000114373]
[ENSMUST00000114376]
[ENSMUST00000114380]
[ENSMUST00000150625]
|
| AlphaFold |
Q8CJ00 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044018
AA Change: D389G
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000037423
Gene: ENSMUSG00000036805
AA Change: D389G
| 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: ENSMUST00000044078
|
| SMART Domains |
Protein: ENSMUSP00000040628
Gene: ENSMUSG00000036813
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GDA1_CD39
|
34 |
463 |
1.8e-106 |
PFAM |
|
transmembrane domain
|
472 |
494 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114373
AA Change: D381G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000110014
Gene: ENSMUSG00000036805
AA Change: D381G
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114376
|
| SMART Domains |
Protein: ENSMUSP00000110017
Gene: ENSMUSG00000036813
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GDA1_CD39
|
34 |
355 |
1.4e-77 |
PFAM |
|
Pfam:GDA1_CD39
|
347 |
423 |
2.1e-11 |
PFAM |
|
transmembrane domain
|
432 |
454 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114380
|
| SMART Domains |
Protein: ENSMUSP00000110022
Gene: ENSMUSG00000036813
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GDA1_CD39
|
34 |
465 |
1.1e-100 |
PFAM |
|
transmembrane domain
|
472 |
494 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127384
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135004
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149470
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152326
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150625
|
| SMART Domains |
Protein: ENSMUSP00000142316
Gene: ENSMUSG00000036813
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GDA1_CD39
|
1 |
41 |
8.4e-8 |
PFAM |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,935,404 (GRCm39) |
V326A |
probably damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,575,362 (GRCm39) |
D883G |
probably damaging |
Het |
| Ankk1 |
A |
G |
9: 49,331,784 (GRCm39) |
|
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,046,702 (GRCm39) |
V1796A |
probably benign |
Het |
| Ccdc186 |
A |
C |
19: 56,801,845 (GRCm39) |
C91G |
probably benign |
Het |
| Clec5a |
T |
C |
6: 40,559,196 (GRCm39) |
T63A |
probably benign |
Het |
| Cyp3a11 |
T |
A |
5: 145,791,961 (GRCm39) |
K477N |
possibly damaging |
Het |
| Dram2 |
T |
A |
3: 106,480,296 (GRCm39) |
V116E |
possibly damaging |
Het |
| Dram2 |
T |
C |
3: 106,478,950 (GRCm39) |
Y181H |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,143,258 (GRCm39) |
F184L |
possibly damaging |
Het |
| Greb1 |
T |
A |
12: 16,748,587 (GRCm39) |
H1102L |
probably benign |
Het |
| Inpp5f |
G |
A |
7: 128,292,430 (GRCm39) |
|
probably benign |
Het |
| Kcng1 |
T |
C |
2: 168,110,960 (GRCm39) |
N68S |
probably damaging |
Het |
| Klhl41 |
A |
G |
2: 69,505,068 (GRCm39) |
D457G |
probably benign |
Het |
| Krt1c |
T |
C |
15: 101,719,646 (GRCm39) |
R675G |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,900,846 (GRCm39) |
V2200D |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,247,580 (GRCm39) |
|
probably benign |
Het |
| Nexn |
A |
T |
3: 151,952,870 (GRCm39) |
F283L |
probably benign |
Het |
| Or2n1c |
A |
G |
17: 38,519,388 (GRCm39) |
N84S |
probably damaging |
Het |
| Or7g21 |
A |
G |
9: 19,032,718 (GRCm39) |
I156V |
probably benign |
Het |
| Parp1 |
A |
G |
1: 180,420,500 (GRCm39) |
|
probably benign |
Het |
| Pirt |
T |
C |
11: 66,816,772 (GRCm39) |
S28P |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,963,975 (GRCm39) |
|
probably null |
Het |
| Sdk2 |
T |
C |
11: 113,758,791 (GRCm39) |
T478A |
probably benign |
Het |
| Secisbp2 |
T |
C |
13: 51,808,552 (GRCm39) |
S106P |
probably benign |
Het |
| Shroom1 |
C |
T |
11: 53,356,385 (GRCm39) |
A416V |
probably damaging |
Het |
| Ski |
C |
T |
4: 155,306,143 (GRCm39) |
A279T |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
| Tab2 |
A |
G |
10: 7,800,468 (GRCm39) |
V28A |
probably damaging |
Het |
| Tmem126a |
G |
A |
7: 90,101,927 (GRCm39) |
P91S |
probably damaging |
Het |
| Ucma |
T |
C |
2: 4,986,042 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation