Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02627:Ncf2'

301152

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: 0.076) question?

Stock #

IGL02627

Quality Score

Status

Chromosome

Chromosomal Location

152800194-152836991 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 152811008 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139774 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000027754

SMART Domains

Protein: ENSMUSP00000027754
Gene: ENSMUSG00000026480

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

probably benign
Transcript: ENSMUST00000186568

SMART Domains

Protein: ENSMUSP00000140404
Gene: ENSMUSG00000026480

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

SMART Domains

Protein: ENSMUSP00000139774
Gene: ENSMUSG00000026480

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	A	2: 30,795,765	K353M	probably damaging	Het
2610301B20Rik	G	A	4: 10,898,039	C207Y	probably damaging	Het
Arhgap32	T	C	9: 32,246,006	Y100H	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Ckap5	A	T	2: 91,576,021	N752I	probably damaging	Het
Dgkz	T	A	2: 91,938,710		probably benign	Het
Egfr	T	A	11: 16,869,346	V292E	probably damaging	Het
Gnb3	T	C	6: 124,834,715	T329A	probably damaging	Het
Igkv3-2	A	T	6: 70,698,826	T40S	probably damaging	Het
Kcnq2	T	C	2: 181,082,327		probably benign	Het
Mbip	T	C	12: 56,335,805	Q292R	probably benign	Het
Mgat5b	T	C	11: 116,983,616	Y625H	probably damaging	Het
Ms4a4d	A	T	19: 11,548,623	E40D	probably damaging	Het
Naip1	T	C	13: 100,425,648	E1003G	possibly damaging	Het
Nfkbiz	A	G	16: 55,816,351	V529A	probably damaging	Het
Osr2	A	G	15: 35,300,454	N52S	possibly damaging	Het
Prag1	A	G	8: 36,139,439	D778G	possibly damaging	Het
Rsl1d1	G	T	16: 11,194,551	A337E	possibly damaging	Het
Sall3	A	T	18: 80,972,361	L784Q	possibly damaging	Het
Spen	A	G	4: 141,473,015	I2744T	probably damaging	Het
Tfip11	A	C	5: 112,329,813	S145R	possibly damaging	Het
Tonsl	T	C	15: 76,634,095	D559G	probably damaging	Het
Trmt5	A	T	12: 73,281,455	S325T	probably damaging	Het
Ubr1	A	T	2: 120,940,991	V472D	probably damaging	Het
Vmn1r30	T	A	6: 58,435,761	T29S	probably benign	Het
Vps29	T	C	5: 122,362,845	S158P	probably benign	Het
Wdr82	T	C	9: 106,176,687	V79A	possibly damaging	Het
Wfdc16	T	A	2: 164,638,463	E37D	possibly damaging	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
IGL02327:Ncf2	APN	1	152816993	missense	possibly damaging	0.49
IGL02366:Ncf2	APN	1	152835073	missense	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
R7048:Ncf2	UTSW	1	152808170	missense	probably benign
X0066:Ncf2	UTSW	1	152810979	start codon destroyed	probably null	0.27
Z1177:Ncf2	UTSW	1	152825942	critical splice donor site	probably null

Posted On

2015-04-16