Incidental Mutation 'R7786:Nox4'
| ID |
599533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nox4
|
| Ensembl Gene |
ENSMUSG00000030562 |
| Gene Name |
NADPH oxidase 4 |
| Synonyms |
|
| MMRRC Submission |
045842-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7786 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
86895304-87047918 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86945050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 71
(I71N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032781]
[ENSMUST00000068829]
[ENSMUST00000124057]
[ENSMUST00000126887]
[ENSMUST00000136577]
[ENSMUST00000144267]
|
| AlphaFold |
Q9JHI8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032781
AA Change: I71N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000032781
Gene: ENSMUSG00000030562
AA Change: I71N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Ferric_reduct
|
58 |
205 |
8.3e-21 |
PFAM |
|
Pfam:FAD_binding_8
|
306 |
417 |
2.8e-17 |
PFAM |
|
Pfam:NAD_binding_6
|
423 |
561 |
7.3e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068829
AA Change: I71N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000070039
Gene: ENSMUSG00000030562
AA Change: I71N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:Ferric_reduct
|
58 |
205 |
5.3e-27 |
PFAM |
|
Pfam:FAD_binding_8
|
306 |
417 |
5.5e-17 |
PFAM |
|
Pfam:NAD_binding_6
|
423 |
539 |
4.3e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124057
AA Change: I102N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119365
Gene: ENSMUSG00000030562
AA Change: I102N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
|
transmembrane domain
|
92 |
114 |
N/A |
INTRINSIC |
|
transmembrane domain
|
134 |
156 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126887
|
| SMART Domains |
Protein: ENSMUSP00000138336
Gene: ENSMUSG00000030562
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136577
|
| SMART Domains |
Protein: ENSMUSP00000138274
Gene: ENSMUSG00000030562
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144267
|
| SMART Domains |
Protein: ENSMUSP00000138143
Gene: ENSMUSG00000030562
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
95% (42/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex. The encoded protein is localized to non-phagocytic cells where it acts as an oxygen sensor and catalyzes the reduction of molecular oxygen to various reactive oxygen species (ROS). The ROS generated by this protein have been implicated in numerous biological functions including signal transduction, cell differentiation and tumor cell growth. A pseudogene has been identified on the other arm of chromosome 11. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a null allele display increased heart damage following pressure overload. Mice with a cardiomyocyte specific deletion show decreased damage following pressure overload. Mice homozygous for a different knock-out allele exhibit decreased suseptibility to bleomycin-induced fibrosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa2 |
T |
C |
18: 74,925,518 (GRCm39) |
S94P |
probably damaging |
Het |
| Adam18 |
C |
T |
8: 25,101,134 (GRCm39) |
R676H |
probably benign |
Het |
| Akna |
A |
G |
4: 63,313,199 (GRCm39) |
L308P |
probably benign |
Het |
| Ambra1 |
G |
C |
2: 91,598,141 (GRCm39) |
V101L |
possibly damaging |
Het |
| Arnt |
A |
G |
3: 95,392,267 (GRCm39) |
D377G |
probably damaging |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cdr1 |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
X: 60,228,130 (GRCm39) |
|
probably benign |
Het |
| Cfap210 |
A |
T |
2: 69,612,092 (GRCm39) |
W179R |
probably damaging |
Het |
| Cit |
C |
A |
5: 116,001,077 (GRCm39) |
Q159K |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 30,984,478 (GRCm39) |
H3935Q |
probably damaging |
Het |
| Emc8 |
T |
C |
8: 121,394,656 (GRCm39) |
Y21C |
probably damaging |
Het |
| Fcrla |
G |
T |
1: 170,748,426 (GRCm39) |
P265Q |
possibly damaging |
Het |
| Gabbr1 |
A |
T |
17: 37,380,955 (GRCm39) |
N766I |
probably damaging |
Het |
| Galnt14 |
T |
A |
17: 74,016,976 (GRCm39) |
T27S |
probably benign |
Het |
| Garin2 |
T |
A |
12: 78,766,403 (GRCm39) |
S391T |
probably benign |
Het |
| Gatad2b |
T |
C |
3: 90,262,986 (GRCm39) |
I476T |
probably damaging |
Het |
| Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
| Gtf2ird1 |
C |
A |
5: 134,419,753 (GRCm39) |
G71* |
probably null |
Het |
| Hdac11 |
T |
A |
6: 91,150,158 (GRCm39) |
L319* |
probably null |
Het |
| Hsd11b2 |
T |
A |
8: 106,245,506 (GRCm39) |
W4R |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,464,466 (GRCm39) |
I1278V |
probably benign |
Het |
| Krt76 |
T |
A |
15: 101,798,965 (GRCm39) |
E240V |
probably damaging |
Het |
| Man2b1 |
C |
T |
8: 85,812,085 (GRCm39) |
Q180* |
probably null |
Het |
| Megf8 |
T |
C |
7: 25,017,120 (GRCm39) |
|
probably null |
Het |
| Mlh3 |
T |
C |
12: 85,313,511 (GRCm39) |
T892A |
probably benign |
Het |
| Mmp21 |
C |
T |
7: 133,276,764 (GRCm39) |
S413N |
probably benign |
Het |
| Nav1 |
T |
C |
1: 135,397,733 (GRCm39) |
D812G |
probably damaging |
Het |
| Oplah |
T |
A |
15: 76,193,916 (GRCm39) |
I14F |
possibly damaging |
Het |
| Or51i2 |
G |
A |
7: 103,689,930 (GRCm39) |
R309H |
unknown |
Het |
| Or52p1 |
T |
A |
7: 104,266,925 (GRCm39) |
I13N |
probably benign |
Het |
| Or5w16 |
A |
T |
2: 87,576,645 (GRCm39) |
Y35F |
probably damaging |
Het |
| Pik3ap1 |
A |
G |
19: 41,310,024 (GRCm39) |
M432T |
probably damaging |
Het |
| Plin3 |
G |
A |
17: 56,586,757 (GRCm39) |
T430I |
probably benign |
Het |
| Poc5 |
C |
A |
13: 96,541,027 (GRCm39) |
Q399K |
possibly damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,036,992 (GRCm39) |
G2013R |
probably damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,190,568 (GRCm39) |
D52G |
probably benign |
Het |
| Tenm2 |
A |
C |
11: 35,901,276 (GRCm39) |
F2488V |
probably damaging |
Het |
| Tnfaip8 |
G |
C |
18: 50,180,178 (GRCm39) |
A110P |
unknown |
Het |
| Tnfaip8 |
C |
T |
18: 50,180,179 (GRCm39) |
A110V |
unknown |
Het |
| Top3a |
C |
T |
11: 60,667,792 (GRCm39) |
A46T |
probably damaging |
Het |
| Try10 |
T |
A |
6: 41,332,463 (GRCm39) |
S40T |
possibly damaging |
Het |
| Vav2 |
C |
A |
2: 27,276,613 (GRCm39) |
L70F |
probably damaging |
Het |
| Xylt1 |
C |
A |
7: 117,242,702 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Nox4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01455:Nox4
|
APN |
7 |
87,025,424 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02711:Nox4
|
APN |
7 |
87,046,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03234:Nox4
|
APN |
7 |
86,966,521 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03286:Nox4
|
APN |
7 |
87,019,349 (GRCm39) |
splice site |
probably benign |
|
|
BB001:Nox4
|
UTSW |
7 |
87,023,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB011:Nox4
|
UTSW |
7 |
87,023,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
LCD18:Nox4
|
UTSW |
7 |
86,892,275 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4151001:Nox4
|
UTSW |
7 |
86,954,097 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0717:Nox4
|
UTSW |
7 |
86,954,098 (GRCm39) |
nonsense |
probably null |
|
|
R1033:Nox4
|
UTSW |
7 |
87,023,621 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1135:Nox4
|
UTSW |
7 |
86,972,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1333:Nox4
|
UTSW |
7 |
86,896,072 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1477:Nox4
|
UTSW |
7 |
86,945,074 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1489:Nox4
|
UTSW |
7 |
86,954,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1579:Nox4
|
UTSW |
7 |
87,019,231 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1669:Nox4
|
UTSW |
7 |
86,945,097 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1742:Nox4
|
UTSW |
7 |
86,945,026 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1900:Nox4
|
UTSW |
7 |
87,010,004 (GRCm39) |
nonsense |
probably null |
|
|
R2112:Nox4
|
UTSW |
7 |
87,021,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2192:Nox4
|
UTSW |
7 |
87,023,588 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2496:Nox4
|
UTSW |
7 |
86,955,958 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2497:Nox4
|
UTSW |
7 |
86,945,084 (GRCm39) |
nonsense |
probably null |
|
|
R4158:Nox4
|
UTSW |
7 |
87,046,032 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4160:Nox4
|
UTSW |
7 |
87,046,032 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4281:Nox4
|
UTSW |
7 |
86,946,732 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4685:Nox4
|
UTSW |
7 |
86,946,716 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4791:Nox4
|
UTSW |
7 |
86,954,055 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5001:Nox4
|
UTSW |
7 |
87,010,011 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5091:Nox4
|
UTSW |
7 |
87,025,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5174:Nox4
|
UTSW |
7 |
86,972,974 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5220:Nox4
|
UTSW |
7 |
87,023,616 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5278:Nox4
|
UTSW |
7 |
87,021,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5723:Nox4
|
UTSW |
7 |
86,954,181 (GRCm39) |
intron |
probably benign |
|
|
R5840:Nox4
|
UTSW |
7 |
87,010,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5852:Nox4
|
UTSW |
7 |
86,988,172 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7516:Nox4
|
UTSW |
7 |
86,970,905 (GRCm39) |
missense |
probably benign |
|
|
R7529:Nox4
|
UTSW |
7 |
87,044,976 (GRCm39) |
missense |
unknown |
|
|
R7587:Nox4
|
UTSW |
7 |
86,966,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7643:Nox4
|
UTSW |
7 |
86,972,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7660:Nox4
|
UTSW |
7 |
87,019,230 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7871:Nox4
|
UTSW |
7 |
86,963,335 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7924:Nox4
|
UTSW |
7 |
87,023,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7934:Nox4
|
UTSW |
7 |
86,945,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8024:Nox4
|
UTSW |
7 |
86,954,118 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8053:Nox4
|
UTSW |
7 |
87,019,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8269:Nox4
|
UTSW |
7 |
86,955,930 (GRCm39) |
splice site |
probably benign |
|
|
R8376:Nox4
|
UTSW |
7 |
87,023,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8461:Nox4
|
UTSW |
7 |
86,966,479 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9041:Nox4
|
UTSW |
7 |
87,025,448 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9100:Nox4
|
UTSW |
7 |
87,025,448 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9101:Nox4
|
UTSW |
7 |
87,025,448 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9102:Nox4
|
UTSW |
7 |
87,025,448 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9109:Nox4
|
UTSW |
7 |
87,025,448 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9135:Nox4
|
UTSW |
7 |
87,025,448 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9136:Nox4
|
UTSW |
7 |
87,025,448 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9220:Nox4
|
UTSW |
7 |
86,970,774 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9252:Nox4
|
UTSW |
7 |
87,025,448 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9298:Nox4
|
UTSW |
7 |
87,025,448 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9306:Nox4
|
UTSW |
7 |
86,896,781 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9338:Nox4
|
UTSW |
7 |
87,025,448 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9339:Nox4
|
UTSW |
7 |
87,025,448 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9448:Nox4
|
UTSW |
7 |
87,045,001 (GRCm39) |
missense |
unknown |
|
|
X0021:Nox4
|
UTSW |
7 |
87,044,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Nox4
|
UTSW |
7 |
87,044,920 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGGAGCTTTGGTAAGATCAAAG -3'
(R):5'- AATGTATCCCTTACCACCACTGAG -3'
Sequencing Primer
(F):5'- CAGCATTCTTGAAGGAATTGGC -3'
(R):5'- TTACCACCACTGAGAAGAGATATTC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation