Incidental Mutation 'IGL03407:Ncf4'
ID |
421649 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ncf4
|
Ensembl Gene |
ENSMUSG00000071715 |
Gene Name |
neutrophil cytosolic factor 4 |
Synonyms |
p40phox |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03407
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
78129001-78146780 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 78138981 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121191
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096357]
[ENSMUST00000133618]
|
AlphaFold |
P97369 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096357
|
SMART Domains |
Protein: ENSMUSP00000094084 Gene: ENSMUSG00000071715
Domain | Start | End | E-Value | Type |
PX
|
18 |
136 |
3.16e-28 |
SMART |
SH3
|
173 |
228 |
2.24e-19 |
SMART |
PB1
|
237 |
329 |
8.06e-16 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126028
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133618
|
SMART Domains |
Protein: ENSMUSP00000121191 Gene: ENSMUSG00000071715
Domain | Start | End | E-Value | Type |
PX
|
18 |
136 |
3.16e-28 |
SMART |
SH3
|
173 |
228 |
2.24e-19 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146147
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147303
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null allele are viable but show impaired NADPH oxidase responses of neutrophils to a variety of stimuli and defective killing of S. aureus in vitro and in vivo. Homozygotes for a knock-in allele that prevents PtdIns3P binding to thePX domain fail in development prior to E10. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
G |
12: 118,904,111 (GRCm39) |
V198A |
probably benign |
Het |
Acot3 |
A |
T |
12: 84,105,415 (GRCm39) |
D294V |
probably damaging |
Het |
Dnajc10 |
T |
C |
2: 80,176,985 (GRCm39) |
Y647H |
probably damaging |
Het |
Eml6 |
G |
A |
11: 29,856,330 (GRCm39) |
L67F |
probably damaging |
Het |
Fbxw8 |
A |
G |
5: 118,280,741 (GRCm39) |
C139R |
probably damaging |
Het |
Fscb |
G |
T |
12: 64,520,269 (GRCm39) |
A399D |
probably damaging |
Het |
Gm21726 |
T |
C |
13: 90,731,760 (GRCm39) |
|
noncoding transcript |
Het |
Lama2 |
A |
T |
10: 27,223,017 (GRCm39) |
V423D |
probably damaging |
Het |
Mctp2 |
A |
T |
7: 71,861,400 (GRCm39) |
I415N |
probably benign |
Het |
Myh13 |
A |
G |
11: 67,242,978 (GRCm39) |
T964A |
probably damaging |
Het |
Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
Or3a1d |
G |
T |
11: 74,238,371 (GRCm39) |
T13K |
possibly damaging |
Het |
Or51m1 |
A |
T |
7: 103,578,158 (GRCm39) |
N43Y |
probably damaging |
Het |
Plch2 |
A |
T |
4: 155,074,255 (GRCm39) |
V870E |
probably damaging |
Het |
Prss55 |
A |
T |
14: 64,314,539 (GRCm39) |
D210E |
probably damaging |
Het |
Rad51ap2 |
A |
G |
12: 11,507,198 (GRCm39) |
I373M |
possibly damaging |
Het |
Rbm12 |
C |
A |
2: 155,939,484 (GRCm39) |
G263* |
probably null |
Het |
Rnf167 |
G |
T |
11: 70,541,879 (GRCm39) |
|
probably null |
Het |
Scn10a |
A |
G |
9: 119,477,237 (GRCm39) |
I715T |
probably damaging |
Het |
Spata31f1a |
A |
T |
4: 42,850,528 (GRCm39) |
W543R |
probably benign |
Het |
St8sia1 |
T |
C |
6: 142,859,775 (GRCm39) |
N118S |
possibly damaging |
Het |
Tas1r3 |
A |
G |
4: 155,946,439 (GRCm39) |
|
probably null |
Het |
Thbs2 |
A |
G |
17: 14,893,535 (GRCm39) |
S882P |
probably benign |
Het |
Tmem25 |
A |
G |
9: 44,707,636 (GRCm39) |
S220P |
probably damaging |
Het |
Tnpo1 |
C |
T |
13: 99,000,348 (GRCm39) |
E340K |
probably damaging |
Het |
Trex1 |
C |
T |
9: 108,887,395 (GRCm39) |
G199S |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,544,545 (GRCm39) |
I32814V |
probably damaging |
Het |
Vmn2r15 |
T |
A |
5: 109,434,185 (GRCm39) |
R840* |
probably null |
Het |
Vps13b |
A |
T |
15: 35,640,012 (GRCm39) |
Q1294L |
possibly damaging |
Het |
Zdhhc7 |
T |
C |
8: 120,812,131 (GRCm39) |
N164D |
probably damaging |
Het |
|
Other mutations in Ncf4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01935:Ncf4
|
APN |
15 |
78,140,186 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02546:Ncf4
|
APN |
15 |
78,145,219 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03064:Ncf4
|
APN |
15 |
78,135,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R0281:Ncf4
|
UTSW |
15 |
78,135,083 (GRCm39) |
missense |
probably damaging |
0.96 |
R0378:Ncf4
|
UTSW |
15 |
78,137,503 (GRCm39) |
missense |
probably damaging |
0.98 |
R1513:Ncf4
|
UTSW |
15 |
78,146,560 (GRCm39) |
missense |
probably benign |
|
R1596:Ncf4
|
UTSW |
15 |
78,134,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R1652:Ncf4
|
UTSW |
15 |
78,145,234 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1815:Ncf4
|
UTSW |
15 |
78,134,602 (GRCm39) |
missense |
probably benign |
0.00 |
R1847:Ncf4
|
UTSW |
15 |
78,134,582 (GRCm39) |
missense |
probably benign |
0.33 |
R1927:Ncf4
|
UTSW |
15 |
78,144,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R2984:Ncf4
|
UTSW |
15 |
78,146,520 (GRCm39) |
missense |
probably benign |
0.09 |
R4302:Ncf4
|
UTSW |
15 |
78,144,962 (GRCm39) |
unclassified |
probably benign |
|
R4649:Ncf4
|
UTSW |
15 |
78,140,189 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4905:Ncf4
|
UTSW |
15 |
78,139,104 (GRCm39) |
missense |
probably damaging |
0.99 |
R5114:Ncf4
|
UTSW |
15 |
78,146,593 (GRCm39) |
unclassified |
probably benign |
|
R5531:Ncf4
|
UTSW |
15 |
78,144,988 (GRCm39) |
unclassified |
probably benign |
|
R5799:Ncf4
|
UTSW |
15 |
78,135,177 (GRCm39) |
missense |
probably benign |
0.00 |
R7284:Ncf4
|
UTSW |
15 |
78,144,902 (GRCm39) |
missense |
probably benign |
0.01 |
R8193:Ncf4
|
UTSW |
15 |
78,146,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R9447:Ncf4
|
UTSW |
15 |
78,146,499 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2016-08-02 |