Incidental Mutation 'IGL02145:Cybb'
| ID |
281702 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cybb
|
| Ensembl Gene |
ENSMUSG00000015340 |
| Gene Name |
cytochrome b-245, beta polypeptide |
| Synonyms |
Cgd, Nox2, gp91phox, gp91 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02145
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
9301493-9354005 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 9323257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 93
(Q93H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128993
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015484]
[ENSMUST00000164685]
[ENSMUST00000170885]
|
| AlphaFold |
Q61093 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015484
AA Change: Q93H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000015484
Gene: ENSMUSG00000015340
AA Change: Q93H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Pfam:Ferric_reduct
|
54 |
220 |
8.4e-29 |
PFAM |
|
Pfam:FAD_binding_6
|
292 |
395 |
1.6e-7 |
PFAM |
|
Pfam:FAD_binding_8
|
292 |
395 |
1e-24 |
PFAM |
|
Pfam:NAD_binding_6
|
401 |
551 |
5.7e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164685
AA Change: Q93H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128963
Gene: ENSMUSG00000015340
AA Change: Q93H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
29 |
N/A |
INTRINSIC |
|
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170885
AA Change: Q93H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128993
Gene: ENSMUSG00000015340
AA Change: Q93H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
60 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes the heavy chain component of a heterodimeric transmembrane ion transporter composed of both a heavy and a light chain. This transporter mediates the transfer of electrons from nicotinamide adenine dinucleotide phosphate (NADPH) to oxygen to generate superoxide. This reaction is important in the innate immune response to pathogens. However, increased activity of the encoded protein also leads to the generation of reactive oxygen species that result in oxidative stress and can cause tissue damage. Conversely, loss of function of the related gene in human causes chronic granulomatous disease. Alternative splicing results in multiple transcript variants, although the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013]
PHENOTYPE: Nullizygous mice show alterations in acute inflammation, synaptic plasticity, memory, metastatic potential, susceptibility to infection and induced GI injury, inflammatory response to chemical peritonitis, vascular response to Ang II, hypoxia-induced LV remodeling, and L-NAME-caused renal responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agt |
A |
G |
8: 125,291,187 (GRCm39) |
L40P |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,980,219 (GRCm39) |
I501T |
probably benign |
Het |
| Aldh2 |
A |
G |
5: 121,706,056 (GRCm39) |
*196Q |
probably null |
Het |
| Ankrd65 |
A |
G |
4: 155,875,848 (GRCm39) |
D23G |
possibly damaging |
Het |
| Anln |
A |
T |
9: 22,250,292 (GRCm39) |
|
probably null |
Het |
| Armc3 |
C |
T |
2: 19,301,671 (GRCm39) |
S663L |
possibly damaging |
Het |
| Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
| Cul5 |
A |
T |
9: 53,546,375 (GRCm39) |
|
probably benign |
Het |
| Cyba |
T |
C |
8: 123,151,796 (GRCm39) |
I134V |
probably damaging |
Het |
| Cyp4f37 |
G |
T |
17: 32,849,009 (GRCm39) |
K292N |
probably benign |
Het |
| Dmxl2 |
T |
C |
9: 54,281,981 (GRCm39) |
I2850V |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,485,367 (GRCm39) |
I118T |
unknown |
Het |
| Ercc6l |
G |
T |
X: 101,189,148 (GRCm39) |
P454T |
probably benign |
Het |
| Grxcr1 |
A |
G |
5: 68,267,821 (GRCm39) |
E190G |
probably damaging |
Het |
| Heatr3 |
C |
T |
8: 88,871,227 (GRCm39) |
R194C |
probably benign |
Het |
| Hspa12b |
C |
T |
2: 130,985,655 (GRCm39) |
|
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,642,777 (GRCm39) |
V644A |
probably damaging |
Het |
| Kif26a |
G |
A |
12: 112,143,409 (GRCm39) |
R1221H |
probably benign |
Het |
| Klra8 |
T |
C |
6: 130,102,199 (GRCm39) |
N79D |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,900,661 (GRCm39) |
I253T |
possibly damaging |
Het |
| Lamp5 |
T |
C |
2: 135,901,509 (GRCm39) |
V111A |
possibly damaging |
Het |
| Lmo7 |
T |
C |
14: 102,139,659 (GRCm39) |
S859P |
probably benign |
Het |
| Mgarp |
T |
C |
3: 51,296,453 (GRCm39) |
Q205R |
possibly damaging |
Het |
| Morf4l1 |
A |
G |
9: 89,975,848 (GRCm39) |
Y315H |
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,433,486 (GRCm39) |
V1117E |
possibly damaging |
Het |
| Nipal1 |
A |
G |
5: 72,824,274 (GRCm39) |
D206G |
probably damaging |
Het |
| Notch3 |
A |
G |
17: 32,373,715 (GRCm39) |
S498P |
probably benign |
Het |
| Npepps |
A |
G |
11: 97,109,328 (GRCm39) |
|
probably null |
Het |
| Or14c46 |
C |
A |
7: 85,918,466 (GRCm39) |
C177F |
probably damaging |
Het |
| Or2ak6 |
T |
C |
11: 58,592,886 (GRCm39) |
Y120H |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,317,613 (GRCm39) |
H1278R |
probably damaging |
Het |
| Pprc1 |
C |
A |
19: 46,053,329 (GRCm39) |
|
probably benign |
Het |
| Rab8b |
A |
T |
9: 66,755,000 (GRCm39) |
|
probably benign |
Het |
| Ripor2 |
T |
A |
13: 24,901,554 (GRCm39) |
I875N |
probably damaging |
Het |
| Samd9l |
T |
C |
6: 3,374,105 (GRCm39) |
E1052G |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,520,569 (GRCm39) |
I569F |
probably damaging |
Het |
| Spata2l |
C |
T |
8: 123,960,770 (GRCm39) |
G173D |
possibly damaging |
Het |
| Stc2 |
T |
G |
11: 31,317,875 (GRCm39) |
|
probably benign |
Het |
| Tm6sf1 |
C |
A |
7: 81,513,000 (GRCm39) |
Y65* |
probably null |
Het |
| Tspan15 |
A |
G |
10: 62,029,751 (GRCm39) |
|
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,454 (GRCm39) |
Y179* |
probably null |
Het |
| Washc5 |
C |
A |
15: 59,241,060 (GRCm39) |
V92L |
probably benign |
Het |
| Wiz |
A |
G |
17: 32,575,893 (GRCm39) |
S838P |
probably benign |
Het |
| Zp2 |
T |
A |
7: 119,739,074 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cybb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01125:Cybb
|
APN |
X |
9,312,983 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02626:Cybb
|
APN |
X |
9,335,439 (GRCm39) |
splice site |
probably null |
|
|
IGL02644:Cybb
|
APN |
X |
9,333,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02869:Cybb
|
APN |
X |
9,308,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03145:Cybb
|
APN |
X |
9,319,892 (GRCm39) |
nonsense |
probably null |
|
|
R3978:Cybb
|
UTSW |
X |
9,310,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3980:Cybb
|
UTSW |
X |
9,310,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4761:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4787:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4788:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4793:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4847:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4901:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4902:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4904:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4914:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4915:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4916:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5058:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5246:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5416:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5519:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5538:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5539:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5576:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5578:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5728:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5729:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5761:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5762:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5927:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6057:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6086:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6144:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6147:Cybb
|
UTSW |
X |
9,316,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1176:Cybb
|
UTSW |
X |
9,306,240 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Cybb
|
UTSW |
X |
9,304,479 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation