Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02327:Ncf2'

288532

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ncf2

Ensembl Gene

ENSMUSG00000026480

Gene Name

neutrophil cytosolic factor 2

Synonyms

NOXA2, p67phox, Ncf-2, NADPH oxidase subunit (67kDa)

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

IGL02327

Quality Score

Status

Chromosome

Chromosomal Location

152800194-152836991 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 152816993 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 87 (Y87F)

Ref Sequence

ENSEMBL: ENSMUSP00000140404 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027754] [ENSMUST00000186568] [ENSMUST00000190323]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027754
AA Change: Y87F

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027754
Gene: ENSMUSG00000026480
AA Change: Y87F

Domain	Start	End	E-Value	Type
TPR	37	70	1.42e0	SMART
TPR	71	104	3.58e-6	SMART
TPR	121	154	1.05e1	SMART
SH3	243	298	1.02e-13	SMART
low complexity region	312	326	N/A	INTRINSIC
PB1	350	428	2.6e-10	SMART
SH3	459	514	8.36e-19	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186568
AA Change: Y87F

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140404
Gene: ENSMUSG00000026480
AA Change: Y87F

Domain	Start	End	E-Value	Type
TPR	37	70	1.42e0	SMART
TPR	71	104	3.58e-6	SMART
TPR	121	154	1.05e1	SMART
SH3	243	298	1.02e-13	SMART
low complexity region	312	326	N/A	INTRINSIC
PB1	350	428	2.6e-10	SMART
SH3	459	514	8.36e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189135

Predicted Effect

probably benign
Transcript: ENSMUST00000190323
AA Change: Y9F

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000139774
Gene: ENSMUSG00000026480
AA Change: Y9F

Domain	Start	End	E-Value	Type
Pfam:TPR_1	1	26	5.8e-4	PFAM
low complexity region	54	69	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd9	A	T	12: 110,977,415	C29S	probably damaging	Het
Ccdc66	G	A	14: 27,493,386	A399V	probably damaging	Het
Ccl12	A	G	11: 82,103,122	I68M	possibly damaging	Het
Cd244	T	C	1: 171,559,341	V6A	probably benign	Het
Cfap97	T	A	8: 46,170,142	S190T	probably damaging	Het
Chic2	G	T	5: 75,027,080	C106*	probably null	Het
Ctdsp2	G	A	10: 126,996,382	D237N	probably benign	Het
Cyp2a22	A	T	7: 26,934,781	M316K	probably damaging	Het
Cyp3a25	A	G	5: 145,986,921	F304S	possibly damaging	Het
Ddc	A	T	11: 11,863,739	V209D	probably damaging	Het
Dhx16	A	G	17: 35,883,825	K446R	probably benign	Het
Fgd3	T	C	13: 49,285,798	K241E	probably damaging	Het
Hps1	G	T	19: 42,756,345		probably benign	Het
Inpp4b	C	T	8: 82,041,962	T700I	probably benign	Het
Kremen2	T	A	17: 23,743,569	M157L	probably benign	Het
Lrwd1	T	C	5: 136,123,464	Y582C	probably damaging	Het
Macf1	T	A	4: 123,471,730	R1514S	probably benign	Het
Mex3c	T	A	18: 73,590,710	C625S	probably damaging	Het
Mical1	G	A	10: 41,486,664	E932K	possibly damaging	Het
Neo1	T	C	9: 58,903,088	T1027A	probably benign	Het
Nfkbib	G	T	7: 28,759,143	P347Q	probably benign	Het
Nr1h2	G	A	7: 44,551,500		probably benign	Het
Olfr1158	A	T	2: 87,990,257	I49F	probably damaging	Het
Olfr224	T	A	11: 58,566,935	R137W	probably damaging	Het
Olfr384	A	T	11: 73,603,155	T192S	probably damaging	Het
Oxct1	A	G	15: 4,037,089		probably null	Het
Pak1ip1	T	G	13: 41,012,417	N308K	probably benign	Het
Prpf38a	T	C	4: 108,568,410	R224G	unknown	Het
Scfd1	T	C	12: 51,389,317	V83A	possibly damaging	Het
Tmem131	C	T	1: 36,799,022	G1545D	probably damaging	Het
Trav13n-4	A	T	14: 53,364,110		probably benign	Het
Ttc3	A	G	16: 94,448,108	D1155G	probably damaging	Het
Unc80	G	A	1: 66,641,673	V2143I	probably benign	Het
Vmn2r16	T	C	5: 109,340,121	Y287H	probably benign	Het
Vmn2r59	A	G	7: 42,012,231	V720A	probably benign	Het
Wars	T	A	12: 108,866,301		probably null	Het
Wdcp	A	G	12: 4,851,115	K324E	possibly damaging	Het
Wdfy3	A	T	5: 101,888,192	L2105H	probably damaging	Het
Xirp2	A	T	2: 67,510,100	D895V	probably damaging	Het
Zscan10	A	T	17: 23,607,572		probably benign	Het

Other mutations in Ncf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Ncf2	APN	1	152808174	missense	possibly damaging	0.49
IGL00952:Ncf2	APN	1	152836106	missense	probably benign	0.19
IGL01504:Ncf2	APN	1	152833329	missense	probably benign	0.00
IGL01693:Ncf2	APN	1	152824323	missense	probably benign	0.00
IGL02005:Ncf2	APN	1	152817052	missense	possibly damaging	0.73
IGL02041:Ncf2	APN	1	152836120	utr 3 prime	probably benign
IGL02366:Ncf2	APN	1	152835073	missense	probably benign
IGL02627:Ncf2	APN	1	152811008	splice site	probably benign
R0560:Ncf2	UTSW	1	152821522	missense	probably damaging	1.00
R1136:Ncf2	UTSW	1	152830372	missense	probably damaging	1.00
R1640:Ncf2	UTSW	1	152808033	start codon destroyed	probably null	1.00
R1673:Ncf2	UTSW	1	152830479	missense	probably benign	0.13
R1836:Ncf2	UTSW	1	152808071	missense	probably damaging	1.00
R1873:Ncf2	UTSW	1	152825910	missense	probably benign	0.00
R1940:Ncf2	UTSW	1	152834064	splice site	probably benign
R1967:Ncf2	UTSW	1	152830372	missense	probably damaging	1.00
R3405:Ncf2	UTSW	1	152825947	unclassified	probably benign
R3406:Ncf2	UTSW	1	152825947	unclassified	probably benign
R4501:Ncf2	UTSW	1	152835033	missense	probably benign	0.00
R4503:Ncf2	UTSW	1	152833778	missense	probably benign	0.20
R4563:Ncf2	UTSW	1	152808225	intron	probably benign
R5841:Ncf2	UTSW	1	152821518	splice site	silent
R6336:Ncf2	UTSW	1	152834070	missense	probably damaging	1.00
R6385:Ncf2	UTSW	1	152830422	missense	probably benign	0.00
R6522:Ncf2	UTSW	1	152827463	critical splice donor site	probably null
R6811:Ncf2	UTSW	1	152836040	missense	probably benign	0.00
X0066:Ncf2	UTSW	1	152810979	start codon destroyed	probably null	0.27

Posted On

2015-04-16