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 78129001-78146780 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to G at 78144988 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
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
Acacb T C 5: 114,342,767 (GRCm39) F878L possibly damaging Het
Acr T A 15: 89,458,146 (GRCm39) Y276N probably damaging Het
AI987944 A T 7: 41,023,814 (GRCm39) Y388* probably null Het
Ankrd29 G A 18: 12,412,835 (GRCm39) T114I probably damaging Het
Ap5z1 T C 5: 142,453,536 (GRCm39) M168T probably benign Het
Bard1 A C 1: 71,085,880 (GRCm39) C608W probably damaging Het
Brd10 A G 19: 29,731,072 (GRCm39) S647P possibly damaging Het
Clspn A G 4: 126,471,566 (GRCm39) R907G probably benign Het
Cubn C T 2: 13,355,743 (GRCm39) V1830I probably benign Het
Cwc22 T C 2: 77,754,913 (GRCm39) N221S probably damaging Het
Dact3 A G 7: 16,609,540 (GRCm39) E64G possibly damaging Het
Dhx40 T C 11: 86,680,330 (GRCm39) E381G possibly damaging Het
Dnah7a A G 1: 53,458,907 (GRCm39) S3744P possibly damaging Het
Epha4 A G 1: 77,351,513 (GRCm39) V914A probably benign Het
Fbxw10 G A 11: 62,753,482 (GRCm39) C492Y probably damaging Het
G930045G22Rik C A 6: 50,824,756 (GRCm39) noncoding transcript Het
Gm21103 A T 14: 17,484,855 (GRCm39) I63K probably damaging Het
Gpr156 T C 16: 37,825,619 (GRCm39) V612A probably benign Het
Gucy2g A G 19: 55,229,572 (GRCm39) S33P probably benign Het
Hibch A G 1: 52,884,228 (GRCm39) probably benign Het
Hmcn1 A T 1: 150,619,539 (GRCm39) C1192S probably damaging Het
Hsd11b1 CGG CG 1: 192,922,557 (GRCm39) probably null Het
Ifi214 A G 1: 173,352,686 (GRCm39) Y248H probably damaging Het
Igf2bp2 T G 16: 21,907,835 (GRCm39) I89L probably damaging Het
Il2ra A T 2: 11,681,703 (GRCm39) T103S possibly damaging Het
Ino80 T A 2: 119,276,056 (GRCm39) M407L probably benign Het
Jade1 A C 3: 41,567,946 (GRCm39) K671N probably benign Het
Lca5 C T 9: 83,280,648 (GRCm39) S384N probably benign Het
Lce1l G T 3: 92,757,804 (GRCm39) P18H unknown Het
Lrrc8d T C 5: 105,945,536 (GRCm39) probably benign Het
Ly75 T C 2: 60,195,489 (GRCm39) N223S probably damaging Het
Mcm3 A T 1: 20,873,768 (GRCm39) F784Y possibly damaging Het
Ncoa1 T A 12: 4,303,746 (GRCm39) M1362L probably benign Het
Or1e16 T C 11: 73,286,003 (GRCm39) T282A probably benign Het
Or5p5 A G 7: 107,414,451 (GRCm39) Y220C probably benign Het
Or6c8b G C 10: 128,882,433 (GRCm39) F166L probably damaging Het
Prkg2 T C 5: 99,115,593 (GRCm39) R543G probably damaging Het
Ptprd A C 4: 75,977,904 (GRCm39) probably null Het
Scap A G 9: 110,210,497 (GRCm39) S969G possibly damaging Het
Sgk2 T C 2: 162,836,624 (GRCm39) F60S probably benign Het
Sgpp1 G T 12: 75,781,981 (GRCm39) Y119* probably null Het
Siglech A T 7: 55,418,413 (GRCm39) K31* probably null Het
Slc40a1 A G 1: 45,951,498 (GRCm39) Y220H probably damaging Het
Smurf2 G A 11: 106,743,389 (GRCm39) T219M possibly damaging Het
Speer4f2 A G 5: 17,581,526 (GRCm39) K156R possibly damaging Het
Spp1 T G 5: 104,588,424 (GRCm39) D276E probably benign Het
Stk32b T C 5: 37,617,078 (GRCm39) probably null Het
Stxbp5 G A 10: 9,638,668 (GRCm39) Q1044* probably null Het
Sv2c T A 13: 96,097,886 (GRCm39) T696S probably damaging Het
Tubgcp2 A C 7: 139,584,937 (GRCm39) probably null Het
Ubap1l C T 9: 65,278,973 (GRCm39) P91S probably damaging Het
Vmn2r76 A T 7: 85,874,657 (GRCm39) D773E probably damaging Het
Xirp2 C G 2: 67,345,646 (GRCm39) S2629C probably benign Het
Zbtb20 C A 16: 43,431,230 (GRCm39) C580* probably null Het
Zfp957 T A 14: 79,450,622 (GRCm39) Q392H unknown Het
Zfyve19 C T 2: 119,042,427 (GRCm39) T178M probably damaging Het
Zswim6 T C 13: 107,906,128 (GRCm39) noncoding transcript 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
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
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'- ACTCTGAGACGTGACACTGG -3'
(R):5'- TCCACCGCAATGTCCCTAAG -3'

Sequencing Primer
(F):5'- TGGGTCTCACCAGCCTC -3'
(R):5'- CCTAAGGGGGACAGTAGAAGAGAC -3'
Posted On 2016-10-06