Incidental Mutation 'R4905:Ncf4'
ID 378135
Institutional Source Beutler Lab
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 # R4905 (G1)
Quality Score 223
Status Not validated
Chromosome 15
Chromosomal Location 78129001-78146780 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78139104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 154 (T154A)
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: T154A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000094084
Gene: ENSMUSG00000071715
AA Change: T154A

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 damaging
Transcript: ENSMUST00000133618
AA Change: T154A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121191
Gene: ENSMUSG00000071715
AA Change: T154A

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
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 87.5%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A T 10: 100,448,680 (GRCm39) probably null Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Abcc5 A G 16: 20,218,678 (GRCm39) S235P probably damaging Het
Abcc6 T C 7: 45,644,649 (GRCm39) N842S probably benign Het
Acbd6 G A 1: 155,500,669 (GRCm39) V210I probably benign Het
Ahctf1 A T 1: 179,576,192 (GRCm39) V2130D probably damaging Het
Akap5 A G 12: 76,375,207 (GRCm39) E213G probably damaging Het
Alyref T G 11: 120,486,879 (GRCm39) probably null Het
Anapc5 G T 5: 122,955,973 (GRCm39) N152K probably benign Het
Atp8b2 A T 3: 89,856,315 (GRCm39) D416E probably benign Het
AW551984 A T 9: 39,508,454 (GRCm39) V354E probably damaging Het
Bag6 A G 17: 35,364,162 (GRCm39) E844G probably damaging Het
Bmp1 C T 14: 70,728,802 (GRCm39) R590H probably benign Het
Ccnh T C 13: 85,354,254 (GRCm39) S233P possibly damaging Het
Cdca7 TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA 2: 72,312,205 (GRCm39) probably benign Het
Col6a6 A G 9: 105,644,623 (GRCm39) S1222P probably damaging Het
Dhfr G A 13: 92,502,282 (GRCm39) G118S probably damaging Het
Dnah9 G A 11: 65,764,950 (GRCm39) R1414* probably null Het
Dnai1 A G 4: 41,614,269 (GRCm39) D315G probably benign Het
Eogt T C 6: 97,119,792 (GRCm39) R139G probably benign Het
Fcgbpl1 A T 7: 27,856,408 (GRCm39) K2065M possibly damaging Het
Fh1 C T 1: 175,446,639 (GRCm39) G79E probably damaging Het
Gabrg3 A G 7: 56,374,304 (GRCm39) Y421H probably damaging Het
Glipr1 C A 10: 111,821,545 (GRCm39) R219L probably damaging Het
Gm1123 T C 9: 98,891,369 (GRCm39) D360G probably benign Het
Ift81 C T 5: 122,729,142 (GRCm39) probably null Het
Itsn2 A G 12: 4,684,583 (GRCm39) probably benign Het
Kri1 A T 9: 21,198,998 (GRCm39) H55Q probably benign Het
Mcidas C T 13: 113,134,038 (GRCm39) T174M possibly damaging Het
Mcidas C A 13: 113,130,951 (GRCm39) A92E possibly damaging Het
Mmp25 C A 17: 23,863,022 (GRCm39) G130* probably null Het
Myh11 G A 16: 14,068,387 (GRCm39) T211M probably benign Het
Myo10 A G 15: 25,800,298 (GRCm39) D1458G probably damaging Het
Nfatc4 T C 14: 56,068,039 (GRCm39) I620T probably benign Het
Nos3 A T 5: 24,572,329 (GRCm39) Y134F probably benign Het
Nup50l T A 6: 96,142,911 (GRCm39) R44S possibly damaging Het
Or13c3 T C 4: 52,855,613 (GRCm39) N300S probably damaging Het
Or51a6 A T 7: 102,604,721 (GRCm39) I36N probably damaging Het
Or5b106 C A 19: 13,123,541 (GRCm39) A161S probably benign Het
Or6c209 T A 10: 129,483,792 (GRCm39) V265E possibly damaging Het
Pax9 G T 12: 56,743,411 (GRCm39) R19S probably damaging Het
Pcdha9 T C 18: 37,131,945 (GRCm39) I338T probably damaging Het
Plxnb2 G T 15: 89,041,614 (GRCm39) T1730K probably damaging Het
Rac1 A G 5: 143,502,907 (GRCm39) probably null Het
Samsn1 G T 16: 75,673,353 (GRCm39) F174L possibly damaging Het
Scaf1 G A 7: 44,662,129 (GRCm39) T86M probably damaging Het
Smc1b A G 15: 84,950,428 (GRCm39) Y1199H probably damaging Het
Svep1 A G 4: 58,069,308 (GRCm39) I2826T probably benign Het
Tex36 A G 7: 133,189,182 (GRCm39) V130A probably damaging Het
Tigd5 A G 15: 75,783,252 (GRCm39) H538R probably damaging Het
Tlr3 C A 8: 45,852,260 (GRCm39) probably null Het
Tubb2b A T 13: 34,312,187 (GRCm39) I202N probably damaging Het
Unc13c A G 9: 73,587,674 (GRCm39) V1453A probably benign Het
Unc5c A T 3: 141,507,071 (GRCm39) T608S probably benign Het
Vrk1 C A 12: 106,018,087 (GRCm39) H119N probably damaging Het
Wdr53 T A 16: 32,075,476 (GRCm39) M227K probably benign Het
Xpo4 T C 14: 57,875,746 (GRCm39) D129G possibly damaging Het
Zcchc4 T C 5: 52,953,992 (GRCm39) I224T probably damaging Het
Zdhhc1 T A 8: 106,210,326 (GRCm39) E30D probably damaging Het
Zscan29 C G 2: 120,991,864 (GRCm39) R540T possibly 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
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
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'- AGGGCTGTCTAGATCTTTCCG -3'
(R):5'- TCAGGGCTCAAGATTCCTGC -3'

Sequencing Primer
(F):5'- GGCTGTCTAGATCTTTCCGTCGAC -3'
(R):5'- CTTCTTAAAGAAGTGGCTCGAACG -3'
Posted On 2016-04-15