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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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