Incidental Mutation 'R6076:Noxa1'
ID |
482726 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Noxa1
|
Ensembl Gene |
ENSMUSG00000036805 |
Gene Name |
NADPH oxidase activator 1 |
Synonyms |
|
MMRRC Submission |
044237-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6076 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
24975679-24985161 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 24975821 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 409
(I409N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110014
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044018]
[ENSMUST00000044078]
[ENSMUST00000114373]
[ENSMUST00000114376]
[ENSMUST00000114380]
[ENSMUST00000150625]
|
AlphaFold |
Q8CJ00 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044018
AA Change: I417N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037423 Gene: ENSMUSG00000036805 AA Change: I417N
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 damaging
Transcript: ENSMUST00000114373
AA Change: I409N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110014 Gene: ENSMUSG00000036805 AA Change: I409N
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Atp6v0a1 |
T |
A |
11: 100,945,886 (GRCm39) |
I723N |
probably damaging |
Het |
C530025M09Rik |
T |
C |
2: 149,672,670 (GRCm39) |
|
probably benign |
Het |
Cdkn1a |
A |
G |
17: 29,318,332 (GRCm39) |
K149E |
probably damaging |
Het |
Cep70 |
T |
A |
9: 99,180,558 (GRCm39) |
I571N |
probably damaging |
Het |
Cimip4 |
T |
C |
15: 78,270,427 (GRCm39) |
R114G |
possibly damaging |
Het |
Col9a1 |
A |
T |
1: 24,234,457 (GRCm39) |
|
probably benign |
Het |
Csde1 |
G |
A |
3: 102,948,545 (GRCm39) |
D132N |
possibly damaging |
Het |
Dlk1 |
A |
G |
12: 109,425,895 (GRCm39) |
Q256R |
probably damaging |
Het |
Epha6 |
A |
T |
16: 60,026,073 (GRCm39) |
D456E |
probably damaging |
Het |
Ephx2 |
A |
G |
14: 66,330,297 (GRCm39) |
V354A |
probably damaging |
Het |
Fpr-rs4 |
A |
G |
17: 18,242,317 (GRCm39) |
N108S |
probably damaging |
Het |
Gimap1 |
C |
T |
6: 48,719,521 (GRCm39) |
Q116* |
probably null |
Het |
Gm10784 |
T |
C |
13: 50,099,310 (GRCm39) |
|
noncoding transcript |
Het |
Grid2ip |
G |
C |
5: 143,373,130 (GRCm39) |
S736T |
probably benign |
Het |
Hic1 |
T |
C |
11: 75,058,154 (GRCm39) |
D245G |
probably damaging |
Het |
Hpcal4 |
C |
A |
4: 123,084,514 (GRCm39) |
Q148K |
probably benign |
Het |
Hspa14 |
C |
T |
2: 3,512,109 (GRCm39) |
S55N |
probably benign |
Het |
Hspa1b |
G |
A |
17: 35,176,473 (GRCm39) |
T504I |
probably damaging |
Het |
Jchain |
G |
T |
5: 88,675,631 (GRCm39) |
T3N |
probably benign |
Het |
Kl |
C |
G |
5: 150,876,466 (GRCm39) |
F95L |
probably damaging |
Het |
Kndc1 |
A |
G |
7: 139,481,954 (GRCm39) |
T115A |
probably damaging |
Het |
Lrp8 |
G |
T |
4: 107,704,656 (GRCm39) |
R292L |
possibly damaging |
Het |
Lrrc15 |
T |
A |
16: 30,091,806 (GRCm39) |
D511V |
probably benign |
Het |
Mapk8 |
A |
G |
14: 33,112,250 (GRCm39) |
C213R |
probably damaging |
Het |
Mcph1 |
C |
T |
8: 18,682,015 (GRCm39) |
P384L |
probably benign |
Het |
Mrps7 |
T |
C |
11: 115,495,713 (GRCm39) |
S84P |
probably damaging |
Het |
Nceh1 |
A |
C |
3: 27,333,344 (GRCm39) |
I147L |
probably benign |
Het |
Or1p1c |
T |
C |
11: 74,161,088 (GRCm39) |
I291T |
probably damaging |
Het |
Pkd1 |
G |
A |
17: 24,800,004 (GRCm39) |
G2975R |
probably benign |
Het |
Ppip5k1 |
T |
C |
2: 121,167,591 (GRCm39) |
D17G |
probably null |
Het |
Prex2 |
T |
A |
1: 11,256,174 (GRCm39) |
Y1182N |
probably benign |
Het |
Rasa2 |
T |
C |
9: 96,427,699 (GRCm39) |
N722S |
probably benign |
Het |
Rcc1l |
A |
G |
5: 134,198,167 (GRCm39) |
V155A |
possibly damaging |
Het |
Rest |
A |
G |
5: 77,430,821 (GRCm39) |
E1080G |
unknown |
Het |
Sacs |
A |
T |
14: 61,441,985 (GRCm39) |
K1344* |
probably null |
Het |
Sec16a |
C |
T |
2: 26,313,954 (GRCm39) |
E1884K |
probably damaging |
Het |
Secisbp2 |
C |
A |
13: 51,833,813 (GRCm39) |
T651K |
probably damaging |
Het |
Sema3e |
A |
G |
5: 14,291,100 (GRCm39) |
D620G |
probably benign |
Het |
Slc6a17 |
A |
G |
3: 107,379,387 (GRCm39) |
S553P |
possibly damaging |
Het |
Smpd5 |
C |
A |
15: 76,179,092 (GRCm39) |
N153K |
probably damaging |
Het |
Ube2d4 |
T |
A |
15: 58,718,992 (GRCm39) |
|
noncoding transcript |
Het |
Vps13c |
A |
G |
9: 67,818,884 (GRCm39) |
I1102V |
probably damaging |
Het |
Wdr36 |
C |
A |
18: 32,979,998 (GRCm39) |
S241Y |
probably damaging |
Het |
Wdr7 |
T |
A |
18: 63,872,348 (GRCm39) |
D427E |
probably damaging |
Het |
Zfp945 |
G |
A |
17: 23,070,432 (GRCm39) |
P489L |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTTCTTCACACAAGAGCCTG -3'
(R):5'- CCTGTGTGAAGGTAAAAGGCTG -3'
Sequencing Primer
(F):5'- CTTCACACAAGAGCCTGTGGTTG -3'
(R):5'- AGGCTGCCCTTTCCTGC -3'
|
Posted On |
2017-07-14 |