Incidental Mutation 'IGL02546:Ncf4'
ID |
297828 |
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 # |
IGL02546
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
78129001-78146780 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 78145219 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 269
(D269G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094084
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096357]
[ENSMUST00000133618]
|
AlphaFold |
P97369 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000096357
AA Change: D269G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000094084 Gene: ENSMUSG00000071715 AA Change: D269G
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148646
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap6 |
G |
T |
12: 52,927,521 (GRCm39) |
V144L |
probably damaging |
Het |
Carmil1 |
A |
T |
13: 24,299,482 (GRCm39) |
N347K |
probably damaging |
Het |
Cyp4a32 |
A |
G |
4: 115,468,520 (GRCm39) |
Y334C |
probably damaging |
Het |
Dmxl2 |
C |
A |
9: 54,273,698 (GRCm39) |
|
probably benign |
Het |
Eps8 |
C |
T |
6: 137,456,064 (GRCm39) |
A806T |
probably benign |
Het |
Evl |
A |
G |
12: 108,614,678 (GRCm39) |
N24S |
possibly damaging |
Het |
Fbxo15 |
T |
C |
18: 84,980,847 (GRCm39) |
|
probably null |
Het |
Gm14179 |
A |
T |
11: 99,634,019 (GRCm39) |
|
|
Het |
Hepacam2 |
A |
G |
6: 3,483,568 (GRCm39) |
V147A |
possibly damaging |
Het |
Jmjd1c |
C |
A |
10: 67,061,115 (GRCm39) |
P1156Q |
possibly damaging |
Het |
Mab21l3 |
A |
T |
3: 101,730,624 (GRCm39) |
V205E |
probably damaging |
Het |
Mad2l1 |
T |
C |
6: 66,512,951 (GRCm39) |
I28T |
probably damaging |
Het |
Minar2 |
T |
A |
18: 59,205,347 (GRCm39) |
M45K |
probably damaging |
Het |
Mroh9 |
T |
A |
1: 162,908,145 (GRCm39) |
I2F |
probably benign |
Het |
Msr1 |
A |
T |
8: 40,068,788 (GRCm39) |
I302K |
probably benign |
Het |
Msrb3 |
C |
T |
10: 120,685,906 (GRCm39) |
V80I |
possibly damaging |
Het |
Nsl1 |
T |
A |
1: 190,803,398 (GRCm39) |
H156Q |
probably benign |
Het |
Nutm1 |
T |
C |
2: 112,078,669 (GRCm39) |
D1082G |
probably benign |
Het |
Or6c216 |
T |
A |
10: 129,678,416 (GRCm39) |
D165V |
probably damaging |
Het |
Or7g20 |
T |
A |
9: 18,946,650 (GRCm39) |
V77D |
possibly damaging |
Het |
Orc4 |
T |
C |
2: 48,807,296 (GRCm39) |
I212V |
probably null |
Het |
Pde6c |
A |
G |
19: 38,128,488 (GRCm39) |
I184V |
probably benign |
Het |
Pfkfb3 |
A |
T |
2: 11,493,589 (GRCm39) |
F129Y |
probably damaging |
Het |
Ppp3cb |
T |
C |
14: 20,551,622 (GRCm39) |
D493G |
probably benign |
Het |
Psg29 |
A |
G |
7: 16,942,707 (GRCm39) |
Y236C |
probably damaging |
Het |
Pzp |
C |
T |
6: 128,471,662 (GRCm39) |
|
probably benign |
Het |
Semp2l2b |
A |
T |
10: 21,942,826 (GRCm39) |
W385R |
probably damaging |
Het |
Sgf29 |
T |
A |
7: 126,271,025 (GRCm39) |
V180E |
probably damaging |
Het |
Sh3bp4 |
A |
G |
1: 89,071,266 (GRCm39) |
|
probably benign |
Het |
Slc39a2 |
A |
T |
14: 52,132,620 (GRCm39) |
T188S |
probably benign |
Het |
Slc6a13 |
G |
T |
6: 121,310,323 (GRCm39) |
M327I |
probably benign |
Het |
Slitrk6 |
T |
A |
14: 110,987,226 (GRCm39) |
H827L |
probably benign |
Het |
Thumpd2 |
T |
G |
17: 81,361,884 (GRCm39) |
K114T |
probably benign |
Het |
Tnfrsf19 |
A |
T |
14: 61,210,987 (GRCm39) |
C234S |
possibly damaging |
Het |
Tns2 |
A |
G |
15: 102,019,375 (GRCm39) |
D446G |
probably damaging |
Het |
Tpm4 |
A |
G |
8: 72,898,547 (GRCm39) |
E137G |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,625,901 (GRCm39) |
R13307C |
probably damaging |
Het |
Ubqln3 |
A |
G |
7: 103,791,725 (GRCm39) |
S122P |
probably benign |
Het |
Ubr5 |
T |
C |
15: 38,008,991 (GRCm39) |
D1080G |
probably benign |
Het |
Ulk4 |
A |
T |
9: 120,981,373 (GRCm39) |
L886* |
probably null |
Het |
Unc80 |
T |
C |
1: 66,594,112 (GRCm39) |
S1164P |
possibly damaging |
Het |
Uspl1 |
T |
C |
5: 149,141,114 (GRCm39) |
V371A |
possibly damaging |
Het |
Virma |
T |
C |
4: 11,494,804 (GRCm39) |
V35A |
probably damaging |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
Zfp787 |
A |
T |
7: 6,135,297 (GRCm39) |
I318N |
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 |
IGL03064:Ncf4
|
APN |
15 |
78,135,102 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03407:Ncf4
|
APN |
15 |
78,138,981 (GRCm39) |
splice site |
probably benign |
|
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 |
2015-04-16 |