Incidental Mutation 'IGL02546:Ncf4'
ID297828
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ncf4
Ensembl Gene ENSMUSG00000071715
Gene Nameneutrophil cytosolic factor 4
Synonymsp40phox
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02546
Quality Score
Status
Chromosome15
Chromosomal Location78244801-78262580 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78261019 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 269 (D269G)
Ref Sequence ENSEMBL: ENSMUSP00000094084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096357] [ENSMUST00000133618]
Predicted Effect probably damaging
Transcript: ENSMUST00000096357
AA Change: D269G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000094084
Gene: ENSMUSG00000071715
AA Change: D269G

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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444G20Rik A T 10: 22,066,927 W385R probably damaging Het
A730017C20Rik T A 18: 59,072,275 M45K probably damaging Het
Akap6 G T 12: 52,880,738 V144L probably damaging Het
Carmil1 A T 13: 24,115,499 N347K probably damaging Het
Cyp4a32 A G 4: 115,611,323 Y334C probably damaging Het
Dmxl2 C A 9: 54,366,414 probably benign Het
Eps8 C T 6: 137,479,066 A806T probably benign Het
Evl A G 12: 108,648,419 N24S possibly damaging Het
Fbxo15 T C 18: 84,962,722 probably null Het
Gm14179 A T 11: 99,743,193 Het
Hepacam2 A G 6: 3,483,568 V147A possibly damaging Het
Jmjd1c C A 10: 67,225,336 P1156Q possibly damaging Het
Mab21l3 A T 3: 101,823,308 V205E probably damaging Het
Mad2l1 T C 6: 66,535,967 I28T probably damaging Het
Mroh9 T A 1: 163,080,576 I2F probably benign Het
Msr1 A T 8: 39,615,747 I302K probably benign Het
Msrb3 C T 10: 120,850,001 V80I possibly damaging Het
Nsl1 T A 1: 191,071,201 H156Q probably benign Het
Nutm1 T C 2: 112,248,324 D1082G probably benign Het
Olfr812 T A 10: 129,842,547 D165V probably damaging Het
Olfr835 T A 9: 19,035,354 V77D possibly damaging Het
Orc4 T C 2: 48,917,284 I212V probably null Het
Pde6c A G 19: 38,140,040 I184V probably benign Het
Pfkfb3 A T 2: 11,488,778 F129Y probably damaging Het
Ppp3cb T C 14: 20,501,554 D493G probably benign Het
Psg29 A G 7: 17,208,782 Y236C probably damaging Het
Pzp C T 6: 128,494,699 probably benign Het
Sgf29 T A 7: 126,671,853 V180E probably damaging Het
Sh3bp4 A G 1: 89,143,544 probably benign Het
Slc39a2 A T 14: 51,895,163 T188S probably benign Het
Slc6a13 G T 6: 121,333,364 M327I probably benign Het
Slitrk6 T A 14: 110,749,794 H827L probably benign Het
Thumpd2 T G 17: 81,054,455 K114T probably benign Het
Tnfrsf19 A T 14: 60,973,538 C234S possibly damaging Het
Tns2 A G 15: 102,110,940 D446G probably damaging Het
Tpm4 A G 8: 72,144,703 E137G probably damaging Het
Ttn G A 2: 76,795,557 R13307C probably damaging Het
Ubqln3 A G 7: 104,142,518 S122P probably benign Het
Ubr5 T C 15: 38,008,747 D1080G probably benign Het
Ulk4 A T 9: 121,152,307 L886* probably null Het
Unc80 T C 1: 66,554,953 S1164P possibly damaging Het
Uspl1 T C 5: 149,204,304 V371A possibly damaging Het
Virma T C 4: 11,494,804 V35A probably damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp787 A T 7: 6,132,298 I318N probably damaging Het
Other mutations in Ncf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01935:Ncf4 APN 15 78255986 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
R5531:Ncf4 UTSW 15 78260788 unclassified probably benign
R5799:Ncf4 UTSW 15 78250977 missense probably benign 0.00
R7284:Ncf4 UTSW 15 78260702 missense probably benign 0.01
Posted On2015-04-16