Mutagenetix > Incidental Mutation

Incidental Mutation 'R0281:Ncf4'

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

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
(F):5'- TGAGAAAGCCTGTCCCTCTCTGTG -3'
(R):5'- AACATGCTGCTGAGCTGGAAGGTG -3'

Sequencing Primer
(F):5'- GTGACCTCTGACCTCATACAGTG -3'
(R):5'- GGTGAGGCCAGGGTCAG -3'

Posted On

2013-05-23