Incidental Mutation 'R5531:Ncf4'
ID 433716
Institutional Source Beutler Lab
Gene Symbol Ncf4
Ensembl Gene ENSMUSG00000071715
Gene Name neutrophil cytosolic factor 4
Synonyms p40phox
MMRRC Submission 043089-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5531 (G1)
Quality Score 207
Status Validated
Chromosome 15
Chromosomal Location 78244801-78262580 bp(+) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) T to G at 78260788 bp (GRCm38)
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

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

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
  • 1x: 98.6%
  • 3x: 97.5%
  • 10x: 95.6%
  • 20x: 92.2%
Validation Efficiency 97% (64/66)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik A G 19: 29,753,672 S647P possibly damaging Het
Acacb T C 5: 114,204,706 F878L possibly damaging Het
Acr T A 15: 89,573,943 Y276N probably damaging Het
AI987944 A T 7: 41,374,390 Y388* probably null Het
Ankrd29 G A 18: 12,279,778 T114I probably damaging Het
Ap5z1 T C 5: 142,467,781 M168T probably benign Het
Bard1 A C 1: 71,046,721 C608W probably damaging Het
Clspn A G 4: 126,577,773 R907G probably benign Het
Cubn C T 2: 13,350,932 V1830I probably benign Het
Cwc22 T C 2: 77,924,569 N221S probably damaging Het
Dact3 A G 7: 16,875,615 E64G possibly damaging Het
Dhx40 T C 11: 86,789,504 E381G possibly damaging Het
Dnah7a A G 1: 53,419,748 S3744P possibly damaging Het
Epha4 A G 1: 77,374,876 V914A probably benign Het
Fbxw10 G A 11: 62,862,656 C492Y probably damaging Het
G930045G22Rik C A 6: 50,847,776 noncoding transcript Het
Gm21103 A T 14: 6,303,861 I63K probably damaging Het
Gpr156 T C 16: 38,005,257 V612A probably benign Het
Gucy2g A G 19: 55,241,140 S33P probably benign Het
Hibch A G 1: 52,845,069 probably benign Het
Hmcn1 A T 1: 150,743,788 C1192S probably damaging Het
Hsd11b1 CGG CG 1: 193,240,249 probably null Het
Ifi214 A G 1: 173,525,120 Y248H probably damaging Het
Igf2bp2 T G 16: 22,089,085 I89L probably damaging Het
Il2ra A T 2: 11,676,892 T103S possibly damaging Het
Ino80 T A 2: 119,445,575 M407L probably benign Het
Jade1 A C 3: 41,613,511 K671N probably benign Het
Lca5 C T 9: 83,398,595 S384N probably benign Het
Lce1l G T 3: 92,850,497 P18H unknown Het
Lrrc8d T C 5: 105,797,670 probably benign Het
Ly75 T C 2: 60,365,145 N223S probably damaging Het
Mcm3 A T 1: 20,803,544 F784Y possibly damaging Het
Ncoa1 T A 12: 4,253,746 M1362L probably benign Het
Olfr1 T C 11: 73,395,177 T282A probably benign Het
Olfr467 A G 7: 107,815,244 Y220C probably benign Het
Olfr765 G C 10: 129,046,564 F166L probably damaging Het
Prkg2 T C 5: 98,967,734 R543G probably damaging Het
Ptprd A C 4: 76,059,667 probably null Het
Scap A G 9: 110,381,429 S969G possibly damaging Het
Sgk2 T C 2: 162,994,704 F60S probably benign Het
Sgpp1 G T 12: 75,735,207 Y119* probably null Het
Siglech A T 7: 55,768,665 K31* probably null Het
Slc40a1 A G 1: 45,912,338 Y220H probably damaging Het
Smurf2 G A 11: 106,852,563 T219M possibly damaging Het
Speer4f2 A G 5: 17,376,528 K156R possibly damaging Het
Spp1 T G 5: 104,440,558 D276E probably benign Het
Stk32b T C 5: 37,459,734 probably null Het
Stxbp5 G A 10: 9,762,924 Q1044* probably null Het
Sv2c T A 13: 95,961,378 T696S probably damaging Het
Tubgcp2 A C 7: 140,005,024 probably null Het
Ubap1l C T 9: 65,371,691 P91S probably damaging Het
Vmn2r76 A T 7: 86,225,449 D773E probably damaging Het
Xirp2 C G 2: 67,515,302 S2629C probably benign Het
Zbtb20 C A 16: 43,610,867 C580* probably null Het
Zfp957 T A 14: 79,213,182 Q392H unknown Het
Zfyve19 C T 2: 119,211,946 T178M probably damaging Het
Zswim6 T C 13: 107,769,593 noncoding transcript Het
Other mutations in Ncf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01935:Ncf4 APN 15 78255986 missense probably damaging 1.00
IGL02546:Ncf4 APN 15 78261019 missense probably damaging 1.00
IGL03064:Ncf4 APN 15 78250902 missense probably damaging 1.00
IGL03407:Ncf4 APN 15 78254781 splice site probably benign
R0281:Ncf4 UTSW 15 78250883 missense probably damaging 0.96
R0378:Ncf4 UTSW 15 78253303 missense probably damaging 0.98
R1513:Ncf4 UTSW 15 78262360 missense probably benign
R1596:Ncf4 UTSW 15 78250437 missense probably damaging 1.00
R1652:Ncf4 UTSW 15 78261034 missense possibly damaging 0.83
R1815:Ncf4 UTSW 15 78250402 missense probably benign 0.00
R1847:Ncf4 UTSW 15 78250382 missense probably benign 0.33
R1927:Ncf4 UTSW 15 78260646 missense probably damaging 1.00
R2984:Ncf4 UTSW 15 78262320 missense probably benign 0.09
R4302:Ncf4 UTSW 15 78260762 unclassified probably benign
R4649:Ncf4 UTSW 15 78255989 missense possibly damaging 0.61
R4905:Ncf4 UTSW 15 78254904 missense probably damaging 0.99
R5114:Ncf4 UTSW 15 78262393 unclassified probably benign
R5799:Ncf4 UTSW 15 78250977 missense probably benign 0.00
R7284:Ncf4 UTSW 15 78260702 missense probably benign 0.01
R8193:Ncf4 UTSW 15 78262266 missense probably damaging 1.00
R9447:Ncf4 UTSW 15 78262299 missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-10-06