Mutagenetix > Incidental Mutation

Incidental Mutation 'R8193:Ncf4'

635314

Institutional Source

Beutler Lab

Gene Symbol

Ncf4

Ensembl Gene

ENSMUSG00000071715

Gene Name

neutrophil cytosolic factor 4

Synonyms

p40phox

MMRRC Submission

067616-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8193 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78129001-78146780 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78146466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 299 (S299P)

Ref Sequence

ENSEMBL: ENSMUSP00000094084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096357] [ENSMUST00000133618]

AlphaFold

P97369

Predicted Effect

probably damaging
Transcript: ENSMUST00000096357
AA Change: S299P

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

SMART Domains

Protein: ENSMUSP00000094084
Gene: ENSMUSG00000071715
AA Change: S299P

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

probably benign
Transcript: ENSMUST00000133618

SMART Domains

Protein: ENSMUSP00000121191
Gene: ENSMUSG00000071715

Domain	Start	End	E-Value	Type
PX	18	136	3.16e-28	SMART
SH3	173	228	2.24e-19	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,213,517 (GRCm39)	V48E	possibly damaging	Het
4930522H14Rik	A	G	4: 109,381,529 (GRCm39)	L83S	probably benign	Het
Abhd18	C	A	3: 40,884,660 (GRCm39)	T233K	probably benign	Het
Adam26a	A	T	8: 44,022,273 (GRCm39)	C406S	probably damaging	Het
Anp32e	G	A	3: 95,836,710 (GRCm39)		probably benign	Het
Cd33	C	T	7: 43,181,696 (GRCm39)	A155T	possibly damaging	Het
Cdc25c	A	T	18: 34,882,675 (GRCm39)		probably null	Het
Cep350	A	G	1: 155,737,825 (GRCm39)	S2673P	probably benign	Het
Chodl	T	C	16: 78,738,412 (GRCm39)	S127P	probably damaging	Het
Clstn2	A	G	9: 97,465,683 (GRCm39)	S103P	probably damaging	Het
Crocc2	T	A	1: 93,117,888 (GRCm39)		probably null	Het
Cyp24a1	A	G	2: 170,327,622 (GRCm39)	L507P	probably damaging	Het
Dcbld2	T	A	16: 58,284,373 (GRCm39)		probably null	Het
Dnah14	T	C	1: 181,515,770 (GRCm39)	Y1991H	probably damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Edrf1	C	T	7: 133,263,606 (GRCm39)	T971I	possibly damaging	Het
Ermap	A	G	4: 119,041,140 (GRCm39)	I290T	possibly damaging	Het
Eva1a	A	T	6: 82,068,921 (GRCm39)	S83C	probably benign	Het
Fcgbp	A	T	7: 27,804,276 (GRCm39)	N1795Y	probably damaging	Het
Foxg1	A	G	12: 49,432,377 (GRCm39)	H370R	possibly damaging	Het
Gabra1	A	G	11: 42,037,968 (GRCm39)	Y217H	probably damaging	Het
Gm3086	A	G	12: 70,016,264 (GRCm39)	N62S	noncoding transcript	Het
Hmcn1	A	T	1: 150,453,228 (GRCm39)	Y5362*	probably null	Het
Igkv5-37	C	A	6: 69,940,796 (GRCm39)		probably benign	Het
Ints3	A	G	3: 90,307,929 (GRCm39)	V647A	possibly damaging	Het
Itga1	A	G	13: 115,104,991 (GRCm39)		probably null	Het
Limk2	T	C	11: 3,297,691 (GRCm39)	K481E	possibly damaging	Het
Lonp2	G	T	8: 87,358,091 (GRCm39)	G104V	probably damaging	Het
Lpar5	T	C	6: 125,058,302 (GRCm39)	S8P	probably benign	Het
Map2k7	T	C	8: 4,294,059 (GRCm39)	F202L	probably benign	Het
Mark1	T	G	1: 184,660,249 (GRCm39)	M136L	probably damaging	Het
Myo15b	T	C	11: 115,775,973 (GRCm39)	S590P	probably damaging	Het
Nbas	T	C	12: 13,483,010 (GRCm39)	V1429A	probably damaging	Het
Nbeal1	T	A	1: 60,292,640 (GRCm39)	Y1097*	probably null	Het
Nfkbiz	T	C	16: 55,642,214 (GRCm39)	D68G	probably damaging	Het
Nomo1	T	C	7: 45,692,037 (GRCm39)	S154P	possibly damaging	Het
Nrp1	G	T	8: 129,187,187 (GRCm39)	W411L	probably damaging	Het
Or10d1b	T	C	9: 39,613,498 (GRCm39)	D189G	possibly damaging	Het
Or4c105	T	A	2: 88,647,803 (GRCm39)	M96K	probably damaging	Het
Or5t18	T	G	2: 86,637,209 (GRCm39)	I45L	noncoding transcript	Het
Or8g2b	T	C	9: 39,750,757 (GRCm39)	I9T	probably benign	Het
Or9g4b	T	C	2: 85,616,305 (GRCm39)	V150A	probably benign	Het
Pcsk5	A	G	19: 17,563,415 (GRCm39)	V574A	possibly damaging	Het
Prex1	C	A	2: 166,435,780 (GRCm39)	R589L	possibly damaging	Het
Prl7d1	A	G	13: 27,893,230 (GRCm39)	V227A		Het
Prpf40b	T	A	15: 99,201,949 (GRCm39)	F16I	unknown	Het
Rasa2	G	A	9: 96,484,791 (GRCm39)	P141L	probably damaging	Het
Rtl1	A	G	12: 109,558,650 (GRCm39)	V1063A	probably benign	Het
Sema4d	A	T	13: 51,859,192 (GRCm39)	C512*	probably null	Het
Slc19a2	A	G	1: 164,084,794 (GRCm39)	N228S	probably benign	Het
Tcf4	A	T	18: 69,633,994 (GRCm39)		probably benign	Het
Tnks2	T	C	19: 36,832,353 (GRCm39)	V264A	possibly damaging	Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Usp53	T	C	3: 122,741,012 (GRCm39)	E746G	probably benign	Het
Utp18	T	C	11: 93,766,903 (GRCm39)	D268G	probably damaging	Het
Vmn1r172	T	A	7: 23,359,752 (GRCm39)	Y212*	probably null	Het
Vmn2r100	T	A	17: 19,725,102 (GRCm39)	C10*	probably null	Het
Vmn2r113	G	T	17: 23,164,501 (GRCm39)	V135F	probably benign	Het
Vps54	T	C	11: 21,242,045 (GRCm39)	F387L	probably benign	Het
Xab2	A	C	8: 3,663,389 (GRCm39)	D450E	probably benign	Het
Zfp408	G	T	2: 91,475,361 (GRCm39)	R598S	probably benign	Het
Zfp788	T	A	7: 41,298,038 (GRCm39)	C225S	probably benign	Het
Zfp944	T	A	17: 22,558,861 (GRCm39)	K129*	probably null	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
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
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
R9447:Ncf4	UTSW	15	78,146,499 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCGTACCATTATTGGATTACCC -3'
(R):5'- TAAAGGCCCTTTGCTGAGCG -3'

Sequencing Primer
(F):5'- TGTTTCCCCATCTGCAGAAC -3'
(R):5'- CTTTGCTGAGCGCCCCG -3'

Posted On

2020-07-13