Incidental Mutation 'R0378:Ncf4'
| ID |
36489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncf4
|
| Ensembl Gene |
ENSMUSG00000071715 |
| Gene Name |
neutrophil cytosolic factor 4 |
| Synonyms |
p40phox |
| MMRRC Submission |
038584-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0378 (G1)
|
| Quality Score |
178 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
78129001-78146780 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78137503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 93
(V93A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096357]
[ENSMUST00000133618]
|
| AlphaFold |
P97369 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096357
AA Change: V93A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000094084
Gene: ENSMUSG00000071715
AA Change: V93A
| 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 damaging
Transcript: ENSMUST00000133618
AA Change: V93A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121191
Gene: ENSMUSG00000071715
AA Change: V93A
| 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
|
| Meta Mutation Damage Score |
0.4808 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
95% (40/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
C |
A |
8: 114,469,749 (GRCm39) |
R651L |
probably damaging |
Het |
| Amd1 |
T |
C |
10: 40,165,380 (GRCm39) |
D317G |
possibly damaging |
Het |
| Artn |
A |
G |
4: 117,784,815 (GRCm39) |
|
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,471,604 (GRCm39) |
V988E |
probably benign |
Het |
| Cyp2c65 |
G |
T |
19: 39,061,662 (GRCm39) |
C216F |
probably benign |
Het |
| Cyp3a11 |
T |
C |
5: 145,805,417 (GRCm39) |
E200G |
probably benign |
Het |
| Cyp3a25 |
T |
A |
5: 145,923,652 (GRCm39) |
K330N |
probably damaging |
Het |
| Duox2 |
C |
A |
2: 122,115,064 (GRCm39) |
V1138L |
probably benign |
Het |
| Erc2 |
A |
G |
14: 27,733,651 (GRCm39) |
D567G |
probably damaging |
Het |
| Eri2 |
A |
G |
7: 119,393,139 (GRCm39) |
|
probably null |
Het |
| Foxa3 |
A |
G |
7: 18,757,294 (GRCm39) |
Y17H |
probably damaging |
Het |
| Fto |
T |
C |
8: 92,200,940 (GRCm39) |
S324P |
probably damaging |
Het |
| Get3 |
A |
T |
8: 85,751,893 (GRCm39) |
M1K |
probably null |
Het |
| Gls2 |
T |
G |
10: 128,043,180 (GRCm39) |
L457R |
probably benign |
Het |
| Gstcd |
A |
T |
3: 132,692,169 (GRCm39) |
L582H |
probably damaging |
Het |
| Gtf3c1 |
G |
A |
7: 125,246,786 (GRCm39) |
R1508* |
probably null |
Het |
| Kif21a |
T |
C |
15: 90,853,977 (GRCm39) |
|
probably null |
Het |
| Klra5 |
A |
T |
6: 129,883,577 (GRCm39) |
D93E |
possibly damaging |
Het |
| Lgr5 |
T |
C |
10: 115,290,404 (GRCm39) |
D456G |
probably damaging |
Het |
| Mau2 |
A |
G |
8: 70,483,305 (GRCm39) |
S186P |
probably damaging |
Het |
| Msr1 |
T |
C |
8: 40,042,423 (GRCm39) |
D384G |
possibly damaging |
Het |
| Oas1f |
T |
G |
5: 120,994,489 (GRCm39) |
C337G |
probably damaging |
Het |
| Or10al3 |
A |
G |
17: 38,011,932 (GRCm39) |
M124V |
probably damaging |
Het |
| Or5p58 |
A |
T |
7: 107,694,429 (GRCm39) |
F116Y |
probably benign |
Het |
| Or6c33 |
T |
A |
10: 129,853,872 (GRCm39) |
L214H |
probably damaging |
Het |
| Pwwp3a |
C |
A |
10: 80,074,713 (GRCm39) |
|
probably null |
Het |
| Rasl10b |
T |
C |
11: 83,309,519 (GRCm39) |
S159P |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Smg8 |
C |
A |
11: 86,971,249 (GRCm39) |
D841Y |
probably damaging |
Het |
| Sox7 |
T |
C |
14: 64,181,398 (GRCm39) |
V65A |
probably damaging |
Het |
| Sp140 |
C |
T |
1: 85,547,772 (GRCm39) |
|
probably benign |
Het |
| Srsf10 |
A |
G |
4: 135,590,501 (GRCm39) |
Y142C |
possibly damaging |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tcerg1l |
A |
G |
7: 137,878,384 (GRCm39) |
V326A |
probably benign |
Het |
| Tcl1b5 |
T |
A |
12: 105,145,326 (GRCm39) |
W97R |
probably damaging |
Het |
| Tmem108 |
T |
C |
9: 103,376,856 (GRCm39) |
R198G |
possibly damaging |
Het |
| Ube2ql1 |
T |
A |
13: 69,887,017 (GRCm39) |
Q148L |
possibly damaging |
Het |
| Vmn1r5 |
A |
T |
6: 56,962,570 (GRCm39) |
I82L |
probably benign |
Het |
| Wdr6 |
A |
T |
9: 108,453,063 (GRCm39) |
S273R |
probably damaging |
Het |
| Ylpm1 |
C |
T |
12: 85,043,850 (GRCm39) |
|
probably benign |
Het |
| Zfp90 |
G |
A |
8: 107,152,138 (GRCm39) |
R617Q |
possibly 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCGGTTGGAAAGTATCTCGGTGAC -3'
(R):5'- ACCGTGACTTTTGTGACCCAGCTC -3'
Sequencing Primer
(F):5'- GAAAGTATCTCGGTGACACTTG -3'
(R):5'- GGCCTTTCAGGATTGAAGATG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation