Mutagenetix > Incidental Mutation

Incidental Mutation 'R1927:Ncf4'

214990

Institutional Source

Beutler Lab

Gene Symbol

Ncf4

Ensembl Gene

ENSMUSG00000071715

Gene Name

neutrophil cytosolic factor 4

Synonyms

p40phox

MMRRC Submission

039945-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1927 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78129001-78146780 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 78144846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 217 (G217V)

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: G217V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000094084
Gene: ENSMUSG00000071715
AA Change: G217V

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: G217V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121191
Gene: ENSMUSG00000071715
AA Change: G217V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148646

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,613,338 (GRCm39)	S31P	probably damaging	Het
Abca12	G	T	1: 71,283,999 (GRCm39)	H2524Q	probably damaging	Het
Acsl5	T	C	19: 55,266,586 (GRCm39)	V135A	probably benign	Het
Actl11	T	G	9: 107,806,736 (GRCm39)	L353R	possibly damaging	Het
Adcy6	G	T	15: 98,496,379 (GRCm39)		probably null	Het
B230104I21Rik	A	G	4: 154,425,694 (GRCm39)	I697T	probably damaging	Het
BC061237	G	A	14: 44,738,700 (GRCm39)	R33K	possibly damaging	Het
Brf1	C	A	12: 112,963,964 (GRCm39)	V5F	possibly damaging	Het
Chmp2a	C	T	7: 12,767,863 (GRCm39)	A21T	possibly damaging	Het
Cwh43	A	G	5: 73,610,417 (GRCm39)	N607S	probably benign	Het
Ddhd2	G	A	8: 26,231,688 (GRCm39)	L445F	possibly damaging	Het
Dicer1	C	A	12: 104,669,143 (GRCm39)	D1180Y	possibly damaging	Het
Dnaaf4	A	T	9: 72,867,909 (GRCm39)	I57L	probably damaging	Het
Dock5	A	T	14: 68,083,511 (GRCm39)	S133T	possibly damaging	Het
Efs	A	T	14: 55,154,620 (GRCm39)	C540S	possibly damaging	Het
Ehd4	C	T	2: 119,921,973 (GRCm39)	G428S	probably benign	Het
Eml1	C	T	12: 108,504,476 (GRCm39)	R812*	probably null	Het
Enpp1	C	T	10: 24,530,786 (GRCm39)	D557N	possibly damaging	Het
Fn3krp	A	G	11: 121,315,803 (GRCm39)	T65A	probably damaging	Het
Galnt5	A	G	2: 57,888,615 (GRCm39)	R72G	probably benign	Het
Gfod1	C	T	13: 43,354,336 (GRCm39)	R213H	possibly damaging	Het
Gm10518	A	G	1: 179,631,210 (GRCm39)		probably benign	Het
Gm5431	A	G	11: 48,780,082 (GRCm39)	F558S	probably damaging	Het
Got1	C	T	19: 43,504,119 (GRCm39)		probably null	Het
Gucy2g	C	T	19: 55,226,191 (GRCm39)	V242I	probably benign	Het
Hdgfl2	T	A	17: 56,406,874 (GRCm39)	V606E	possibly damaging	Het
Hoxa3	T	C	6: 52,146,979 (GRCm39)		probably benign	Het
Iqub	T	A	6: 24,491,670 (GRCm39)	I339L	probably benign	Het
Kdm4c	C	T	4: 74,263,720 (GRCm39)	T668I	probably benign	Het
Klhl32	T	C	4: 24,617,474 (GRCm39)	I592V	probably benign	Het
Mfsd12	G	T	10: 81,197,921 (GRCm39)	M296I	probably benign	Het
Mfsd4b4	C	T	10: 39,768,437 (GRCm39)	A219T	probably damaging	Het
Mrpl52	T	C	14: 54,664,414 (GRCm39)	S9P	possibly damaging	Het
Nbr1	A	G	11: 101,458,040 (GRCm39)	Y273C	possibly damaging	Het
Neo1	T	C	9: 58,897,668 (GRCm39)	E96G	probably benign	Het
Nid2	T	A	14: 19,818,344 (GRCm39)	N279K	probably damaging	Het
Nr5a2	A	G	1: 136,872,732 (GRCm39)	Y56H	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Nynrin	A	G	14: 56,101,049 (GRCm39)	T280A	probably benign	Het
Or1o2	A	G	17: 37,542,434 (GRCm39)	Y276H	probably damaging	Het
Or2b28	T	A	13: 21,531,116 (GRCm39)	I6N	probably benign	Het
Or2w2	A	G	13: 21,758,426 (GRCm39)	F67L	probably benign	Het
Or55b10	A	G	7: 102,143,266 (GRCm39)	S239P	possibly damaging	Het
Or5b109	T	C	19: 13,212,393 (GRCm39)	Y260H	probably damaging	Het
Otog	G	A	7: 45,895,707 (GRCm39)	C107Y	probably damaging	Het
Ptprn	A	G	1: 75,230,766 (GRCm39)	V565A	probably benign	Het
Rbm6	T	G	9: 107,730,102 (GRCm39)	D182A	probably damaging	Het
Rhbg	A	G	3: 88,151,859 (GRCm39)	F400L	probably benign	Het
Rpl22l1	T	A	3: 28,860,738 (GRCm39)	N33K	possibly damaging	Het
Rtp1	T	A	16: 23,249,959 (GRCm39)	I108N	probably damaging	Het
Sema6b	A	T	17: 56,439,797 (GRCm39)	F15I	probably benign	Het
Sirpa	C	T	2: 129,458,296 (GRCm39)	T304I	possibly damaging	Het
Slc22a29	A	G	19: 8,184,430 (GRCm39)	I257T	probably benign	Het
Slc41a1	T	C	1: 131,768,938 (GRCm39)	I256T	probably damaging	Het
Smg6	A	G	11: 75,033,674 (GRCm39)	K1208R	probably damaging	Het
Sorcs1	G	T	19: 50,210,633 (GRCm39)	P744Q	probably damaging	Het
Sptbn5	T	C	2: 119,900,943 (GRCm39)	T213A	probably benign	Het
St18	A	G	1: 6,872,936 (GRCm39)	T224A	probably benign	Het
Stat3	T	C	11: 100,785,655 (GRCm39)	N465S	probably damaging	Het
Stmn2	T	A	3: 8,610,636 (GRCm39)	M40K	probably benign	Het
Tespa1	A	G	10: 130,184,108 (GRCm39)	D63G	probably benign	Het
Thrb	T	A	14: 18,008,674 (GRCm38)	C133S	probably damaging	Het
Tmem25	C	T	9: 44,707,780 (GRCm39)	V172M	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trhde	T	A	10: 114,636,754 (GRCm39)	Y151F	probably damaging	Het
Trp53bp2	A	G	1: 182,280,229 (GRCm39)	T912A	probably damaging	Het
Unc79	C	A	12: 103,135,951 (GRCm39)	A2269E	probably damaging	Het
Zfp507	C	T	7: 35,493,150 (GRCm39)	R631Q	probably damaging	Het
Zfp758	T	G	17: 22,594,823 (GRCm39)	S436R	probably damaging	Het
Zfp791	G	T	8: 85,837,312 (GRCm39)	T184K	probably benign	Het
Znrf3	A	G	11: 5,231,062 (GRCm39)	V817A	probably benign	Het

Other mutations in Ncf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GAGCGTGTGAGAGTAAAATTCTTG -3'
(R):5'- AACACAGGAGCGTTGACTG -3'

Sequencing Primer
(F):5'- GTCCCCACTACTTGATTAAGGGAG -3'
(R):5'- CAGGAGCGTTGACTGGGAGAC -3'

Posted On

2014-07-14