Incidental Mutation 'R4847:Cybb'
| ID |
373351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cybb
|
| Ensembl Gene |
ENSMUSG00000015340 |
| Gene Name |
cytochrome b-245, beta polypeptide |
| Synonyms |
Cgd, Nox2, gp91phox, gp91 |
| MMRRC Submission |
042460-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4847 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
X |
| Chromosomal Location |
9301493-9354005 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 9316989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Histidine
at position 246
(D246H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015484]
[ENSMUST00000164685]
|
| AlphaFold |
Q61093 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015484
AA Change: D246H
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000015484
Gene: ENSMUSG00000015340
AA Change: D246H
| 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 |
noncoding transcript
Transcript: ENSMUST00000154503
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164685
|
| SMART Domains |
Protein: ENSMUSP00000128963
Gene: ENSMUSG00000015340
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
29 |
N/A |
INTRINSIC |
|
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
C |
T |
11: 80,264,940 (GRCm39) |
V171M |
probably damaging |
Het |
| Abhd3 |
A |
G |
18: 10,647,786 (GRCm39) |
S328P |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Aldh1b1 |
G |
T |
4: 45,802,625 (GRCm39) |
K54N |
possibly damaging |
Het |
| Amacr |
C |
T |
15: 10,994,958 (GRCm39) |
Q257* |
probably null |
Het |
| Ankrd12 |
A |
T |
17: 66,331,087 (GRCm39) |
D309E |
probably benign |
Het |
| Anks6 |
T |
C |
4: 47,033,266 (GRCm39) |
T600A |
probably benign |
Het |
| Ap3b1 |
A |
G |
13: 94,608,287 (GRCm39) |
E586G |
probably benign |
Het |
| Atad2b |
A |
G |
12: 4,994,901 (GRCm39) |
|
probably null |
Het |
| Cant1 |
G |
A |
11: 118,300,936 (GRCm39) |
Q240* |
probably null |
Het |
| Cep152 |
T |
C |
2: 125,460,394 (GRCm39) |
Y186C |
possibly damaging |
Het |
| Cep76 |
C |
A |
18: 67,752,639 (GRCm39) |
R603I |
probably benign |
Het |
| Chad |
T |
C |
11: 94,459,153 (GRCm39) |
S352P |
probably benign |
Het |
| Ckap2 |
T |
C |
8: 22,665,084 (GRCm39) |
E460G |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,671,348 (GRCm39) |
Y1004C |
unknown |
Het |
| Col9a3 |
G |
A |
2: 180,257,318 (GRCm39) |
G480S |
probably damaging |
Het |
| Cpsf2 |
A |
G |
12: 101,963,561 (GRCm39) |
D430G |
probably benign |
Het |
| Cramp1 |
T |
C |
17: 25,204,063 (GRCm39) |
D305G |
probably damaging |
Het |
| Ctnnd1 |
C |
A |
2: 84,452,396 (GRCm39) |
E76* |
probably null |
Het |
| Cyp2c39 |
A |
T |
19: 39,549,340 (GRCm39) |
N286I |
probably damaging |
Het |
| Ddx11 |
A |
G |
17: 66,437,796 (GRCm39) |
E174G |
probably damaging |
Het |
| Ddx19a |
T |
C |
8: 111,703,677 (GRCm39) |
E369G |
probably damaging |
Het |
| Dnai7 |
T |
A |
6: 145,120,911 (GRCm39) |
H636L |
probably damaging |
Het |
| Epha1 |
T |
A |
6: 42,338,848 (GRCm39) |
D687V |
possibly damaging |
Het |
| Fgr |
T |
C |
4: 132,721,959 (GRCm39) |
W132R |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,692,851 (GRCm39) |
D170V |
possibly damaging |
Het |
| Gas2l1 |
A |
G |
11: 5,014,173 (GRCm39) |
S96P |
probably damaging |
Het |
| Gfy |
G |
A |
7: 44,827,020 (GRCm39) |
P359S |
probably damaging |
Het |
| Hexim2 |
A |
G |
11: 103,029,767 (GRCm39) |
N273S |
probably benign |
Het |
| Hr |
A |
T |
14: 70,793,916 (GRCm39) |
T59S |
probably benign |
Het |
| Ift70a2 |
A |
T |
2: 75,808,058 (GRCm39) |
N151K |
probably benign |
Het |
| Impdh2 |
A |
G |
9: 108,441,870 (GRCm39) |
Y166C |
probably damaging |
Het |
| Impdh2 |
T |
A |
9: 108,442,714 (GRCm39) |
F514Y |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,810,251 (GRCm39) |
F731S |
probably benign |
Het |
| Klhl17 |
A |
T |
4: 156,316,054 (GRCm39) |
H433Q |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Kntc1 |
A |
C |
5: 123,940,337 (GRCm39) |
N1645T |
probably benign |
Het |
| Mcm8 |
A |
G |
2: 132,661,923 (GRCm39) |
I114V |
probably benign |
Het |
| Mink1 |
T |
A |
11: 70,492,854 (GRCm39) |
L160Q |
probably damaging |
Het |
| Mipol1 |
A |
T |
12: 57,350,282 (GRCm39) |
S27C |
probably damaging |
Het |
| Mthfr |
T |
C |
4: 148,132,596 (GRCm39) |
V217A |
probably damaging |
Het |
| Or5b105 |
A |
G |
19: 13,079,898 (GRCm39) |
Y257H |
probably damaging |
Het |
| Or5p53 |
T |
A |
7: 107,533,034 (GRCm39) |
C102* |
probably null |
Het |
| Pde1c |
T |
C |
6: 56,100,019 (GRCm39) |
K614E |
possibly damaging |
Het |
| Pds5b |
A |
T |
5: 150,671,577 (GRCm39) |
E407V |
probably damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,280,525 (GRCm39) |
S586P |
possibly damaging |
Het |
| Prkcb |
C |
T |
7: 122,167,372 (GRCm39) |
R361W |
probably benign |
Het |
| Psen2 |
T |
A |
1: 180,073,197 (GRCm39) |
|
probably null |
Het |
| Ptk2 |
T |
A |
15: 73,103,805 (GRCm39) |
M82L |
probably benign |
Het |
| Ptk2b |
T |
C |
14: 66,411,331 (GRCm39) |
D400G |
probably damaging |
Het |
| Samd8 |
G |
A |
14: 21,842,503 (GRCm39) |
R275Q |
possibly damaging |
Het |
| Senp2 |
A |
G |
16: 21,857,386 (GRCm39) |
T403A |
possibly damaging |
Het |
| Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
| Skap2 |
T |
A |
6: 51,980,649 (GRCm39) |
I52L |
probably benign |
Het |
| Slc5a7 |
T |
C |
17: 54,584,168 (GRCm39) |
D374G |
possibly damaging |
Het |
| Slmap |
A |
T |
14: 26,147,763 (GRCm39) |
L699M |
possibly damaging |
Het |
| Sntg1 |
A |
C |
1: 8,665,706 (GRCm39) |
C203G |
possibly damaging |
Het |
| Stard9 |
T |
C |
2: 120,533,594 (GRCm39) |
S3284P |
probably benign |
Het |
| Tbx21 |
T |
C |
11: 97,005,857 (GRCm39) |
Y36C |
probably damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,906,311 (GRCm39) |
Y971C |
probably damaging |
Het |
| Trpm5 |
T |
A |
7: 142,641,500 (GRCm39) |
I137F |
possibly damaging |
Het |
| Unk |
A |
G |
11: 115,945,232 (GRCm39) |
K426E |
probably damaging |
Het |
| Zc3hc1 |
T |
C |
6: 30,375,981 (GRCm39) |
D193G |
probably benign |
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 |
|
IGL02145:Cybb
|
APN |
X |
9,323,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCACATGTCCTGGTTTGG -3'
(R):5'- TTTGCGATATGTGCACAATCAG -3'
Sequencing Primer
(F):5'- CTTCTCAACTTGACACATGCTAGAG -3'
(R):5'- CACAATCAGTGTTGAGGATATAGGCC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation