Incidental Mutation 'R0281:Ncf4'
ID 37569
Institutional Source Beutler Lab
Gene Symbol Ncf4
Ensembl Gene ENSMUSG00000071715
Gene Name neutrophil cytosolic factor 4
Synonyms p40phox
MMRRC Submission 038503-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0281 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 78244801-78262580 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78250883 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 47 (T47A)
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: T47A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000094084
Gene: ENSMUSG00000071715
AA Change: T47A

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: T47A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121191
Gene: ENSMUSG00000071715
AA Change: T47A

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 0.6139 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 98% (104/106)
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A T 4: 62,546,067 (GRCm38) R374* probably null Het
5930422O12Rik A T 8: 33,429,379 (GRCm38) R76* probably null Het
A1cf G A 19: 31,945,814 (GRCm38) A505T probably benign Het
Abcc5 T A 16: 20,422,400 (GRCm38) I12F probably damaging Het
Abcf2 T C 5: 24,566,564 (GRCm38) E555G probably damaging Het
Acan A T 7: 79,100,285 (GRCm38) E1601D probably damaging Het
Acsbg3 T A 17: 56,885,169 (GRCm38) Y577* probably null Het
Adam2 T A 14: 66,037,606 (GRCm38) K559N probably benign Het
Akap11 A C 14: 78,510,089 (GRCm38) D1619E possibly damaging Het
Ankrd11 T C 8: 122,895,568 (GRCm38) D515G probably benign Het
Ankrd27 T A 7: 35,619,371 (GRCm38) N562K probably damaging Het
Atp10b T C 11: 43,153,304 (GRCm38) I119T probably benign Het
Atr T C 9: 95,937,566 (GRCm38) I2202T probably benign Het
Bltp2 C T 11: 78,271,924 (GRCm38) L871F possibly damaging Het
Brd4 T A 17: 32,213,540 (GRCm38) probably benign Het
Catsperg2 C T 7: 29,706,571 (GRCm38) C634Y possibly damaging Het
Cep192 A G 18: 67,828,482 (GRCm38) probably benign Het
Cfap65 T A 1: 74,927,071 (GRCm38) I366F probably damaging Het
Cnga4 G T 7: 105,407,668 (GRCm38) R326L probably damaging Het
Cntnap5b T A 1: 100,072,153 (GRCm38) M212K probably benign Het
Col6a6 T A 9: 105,784,116 (GRCm38) M265L probably benign Het
Cspg4b A T 13: 113,369,143 (GRCm38) I727F probably damaging Het
Cyp26b1 A T 6: 84,574,556 (GRCm38) F417Y probably damaging Het
Dhx15 A T 5: 52,150,746 (GRCm38) M768K probably benign Het
Drc7 G A 8: 95,071,253 (GRCm38) R433H possibly damaging Het
Duox2 C T 2: 122,292,304 (GRCm38) V550M probably benign Het
Elmo2 A G 2: 165,296,890 (GRCm38) L456P probably damaging Het
Fbxo39 T C 11: 72,317,530 (GRCm38) I236T probably benign Het
Fezf2 A G 14: 12,343,977 (GRCm38) C305R probably damaging Het
Fndc3b C A 3: 27,457,006 (GRCm38) C785F probably benign Het
Gm12253 T C 11: 58,440,012 (GRCm38) probably benign Het
Gnat2 T A 3: 108,095,562 (GRCm38) Y95* probably null Het
Gopc T C 10: 52,350,678 (GRCm38) K220E probably damaging Het
Hectd4 G A 5: 121,254,251 (GRCm38) D193N possibly damaging Het
Hexa G A 9: 59,554,226 (GRCm38) probably null Het
Hspa4l T C 3: 40,785,408 (GRCm38) probably benign Het
Hspa5 T C 2: 34,774,320 (GRCm38) S301P probably damaging Het
Ice1 A T 13: 70,604,047 (GRCm38) S1307T possibly damaging Het
Igtp T C 11: 58,206,054 (GRCm38) L17P probably damaging Het
Itk T C 11: 46,353,916 (GRCm38) Y225C probably damaging Het
Kifc3 A G 8: 95,103,460 (GRCm38) V560A probably damaging Het
Lama1 A G 17: 67,817,569 (GRCm38) N2875D probably damaging Het
Lasp1 C A 11: 97,806,851 (GRCm38) C32* probably null Het
Lcp2 T A 11: 34,069,854 (GRCm38) probably benign Het
Lhx9 C T 1: 138,832,904 (GRCm38) G236D probably benign Het
Lrrc38 A T 4: 143,350,409 (GRCm38) I81F probably damaging Het
Ly6a C T 15: 74,995,387 (GRCm38) V94M probably benign Het
Map3k13 A G 16: 21,914,157 (GRCm38) E503G probably damaging Het
Mertk T C 2: 128,782,621 (GRCm38) probably benign Het
Mrtfb T A 16: 13,412,163 (GRCm38) I915N probably damaging Het
Msantd2 G A 9: 37,523,219 (GRCm38) D252N possibly damaging Het
Mtmr12 T A 15: 12,257,706 (GRCm38) L290* probably null Het
Myo3a T C 2: 22,245,598 (GRCm38) I92T probably benign Het
Naglu T A 11: 101,074,027 (GRCm38) N313K probably damaging Het
Nceh1 T C 3: 27,222,804 (GRCm38) V92A possibly damaging Het
Nrp1 T A 8: 128,460,683 (GRCm38) F403L probably damaging Het
Nxph3 T C 11: 95,511,256 (GRCm38) T111A possibly damaging Het
Obscn T A 11: 59,038,615 (GRCm38) E6061V probably damaging Het
Obsl1 C A 1: 75,492,927 (GRCm38) G1149W probably damaging Het
Or14c39 A G 7: 86,694,860 (GRCm38) T135A probably benign Het
Or2k2 A T 4: 58,784,981 (GRCm38) V247E probably damaging Het
Or2p2 T A 13: 21,072,374 (GRCm38) Y309F probably benign Het
Or5b123 A G 19: 13,619,485 (GRCm38) T65A probably benign Het
Or5d14 C T 2: 88,050,412 (GRCm38) V71I possibly damaging Het
Or5p68 A C 7: 108,346,914 (GRCm38) D22E probably benign Het
Or6c70 T A 10: 129,874,546 (GRCm38) L70F possibly damaging Het
Pde9a T C 17: 31,455,106 (GRCm38) V55A probably damaging Het
Pip4k2c A T 10: 127,205,821 (GRCm38) probably null Het
Plvap T C 8: 71,511,382 (GRCm38) N112S probably damaging Het
Pop1 T A 15: 34,529,858 (GRCm38) probably null Het
Ppip5k2 T C 1: 97,716,553 (GRCm38) H1113R possibly damaging Het
Ptprk A T 10: 28,573,392 (GRCm38) I962F probably damaging Het
Rad51ap2 T C 12: 11,457,042 (GRCm38) S322P possibly damaging Het
Rasal1 A G 5: 120,674,605 (GRCm38) T565A probably benign Het
Rbm15 C A 3: 107,331,155 (GRCm38) R642S probably damaging Het
Rpsa G A 9: 120,131,003 (GRCm38) E211K possibly damaging Het
Ryr3 A G 2: 112,686,810 (GRCm38) S3303P probably damaging Het
Scg2 T A 1: 79,435,512 (GRCm38) N458I possibly damaging Het
Setx A G 2: 29,179,643 (GRCm38) T2487A probably benign Het
Slc4a5 G A 6: 83,267,567 (GRCm38) probably benign Het
Slc8a2 T A 7: 16,140,989 (GRCm38) D387E probably benign Het
Smarcc2 A G 10: 128,474,722 (GRCm38) T407A probably benign Het
Snap25 A G 2: 136,777,464 (GRCm38) D179G probably damaging Het
Socs4 T C 14: 47,289,868 (GRCm38) S74P probably benign Het
Sp6 T A 11: 97,021,925 (GRCm38) Y155N probably benign Het
Srrt C T 5: 137,296,127 (GRCm38) probably benign Het
Steap1 C T 5: 5,736,431 (GRCm38) M335I probably benign Het
Stra6 A T 9: 58,145,489 (GRCm38) Y250F probably benign Het
Svil T C 18: 5,094,582 (GRCm38) S1421P probably damaging Het
Tcea3 G A 4: 136,271,366 (GRCm38) C317Y probably damaging Het
Tmco6 T C 18: 36,737,704 (GRCm38) L117S probably damaging Het
Trp53bp1 T C 2: 121,270,237 (GRCm38) K89E probably damaging Het
Trp63 T A 16: 25,764,302 (GRCm38) probably benign Het
Ube2d2a A G 18: 35,800,132 (GRCm38) Y74C probably damaging Het
Usp19 T G 9: 108,498,509 (GRCm38) F885V probably damaging Het
Utp18 T A 11: 93,882,177 (GRCm38) probably benign Het
Vmn2r116 T C 17: 23,401,413 (GRCm38) I707T possibly damaging Het
Vmn2r68 T A 7: 85,233,249 (GRCm38) probably benign Het
Vmn2r68 C G 7: 85,233,258 (GRCm38) probably null Het
Zfp318 C T 17: 46,412,614 (GRCm38) P1848S probably benign Het
Zfp984 G T 4: 147,755,265 (GRCm38) N376K probably benign Het
Other mutations in Ncf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01935:Ncf4 APN 15 78,255,986 (GRCm38) missense probably damaging 1.00
IGL02546:Ncf4 APN 15 78,261,019 (GRCm38) missense probably damaging 1.00
IGL03064:Ncf4 APN 15 78,250,902 (GRCm38) missense probably damaging 1.00
IGL03407:Ncf4 APN 15 78,254,781 (GRCm38) splice site probably benign
R0378:Ncf4 UTSW 15 78,253,303 (GRCm38) missense probably damaging 0.98
R1513:Ncf4 UTSW 15 78,262,360 (GRCm38) missense probably benign
R1596:Ncf4 UTSW 15 78,250,437 (GRCm38) missense probably damaging 1.00
R1652:Ncf4 UTSW 15 78,261,034 (GRCm38) missense possibly damaging 0.83
R1815:Ncf4 UTSW 15 78,250,402 (GRCm38) missense probably benign 0.00
R1847:Ncf4 UTSW 15 78,250,382 (GRCm38) missense probably benign 0.33
R1927:Ncf4 UTSW 15 78,260,646 (GRCm38) missense probably damaging 1.00
R2984:Ncf4 UTSW 15 78,262,320 (GRCm38) missense probably benign 0.09
R4302:Ncf4 UTSW 15 78,260,762 (GRCm38) unclassified probably benign
R4649:Ncf4 UTSW 15 78,255,989 (GRCm38) missense possibly damaging 0.61
R4905:Ncf4 UTSW 15 78,254,904 (GRCm38) missense probably damaging 0.99
R5114:Ncf4 UTSW 15 78,262,393 (GRCm38) unclassified probably benign
R5531:Ncf4 UTSW 15 78,260,788 (GRCm38) unclassified probably benign
R5799:Ncf4 UTSW 15 78,250,977 (GRCm38) missense probably benign 0.00
R7284:Ncf4 UTSW 15 78,260,702 (GRCm38) missense probably benign 0.01
R8193:Ncf4 UTSW 15 78,262,266 (GRCm38) missense probably damaging 1.00
R9447:Ncf4 UTSW 15 78,262,299 (GRCm38) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-05-23