Mutagenetix > Incidental Mutation

Incidental Mutation 'R9778:Ncf1'

733833

Institutional Source

Beutler Lab

Gene Symbol

Ncf1

Ensembl Gene

ENSMUSG00000015950

Gene Name

neutrophil cytosolic factor 1

Synonyms

p47, Ncf-1, p47phox, NADPH oxidase subunit (47kDa), NOXO2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9778 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134248907-134258479 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 134258444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016094] [ENSMUST00000111275] [ENSMUST00000144086] [ENSMUST00000146354]

AlphaFold

Q09014

Predicted Effect

probably benign
Transcript: ENSMUST00000016094

SMART Domains

Protein: ENSMUSP00000016094
Gene: ENSMUSG00000015950

Domain	Start	End	E-Value	Type
PX	4	121	2.14e-25	SMART
SH3	159	214	2.17e-17	SMART
SH3	229	284	1.02e-13	SMART
Pfam:p47_phox_C	332	403	1.3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111275

SMART Domains

Protein: ENSMUSP00000106906
Gene: ENSMUSG00000015950

Domain	Start	End	E-Value	Type
PX	4	121	2.14e-25	SMART
SH3	159	214	2.17e-17	SMART
SH3	229	284	1.02e-13	SMART
Pfam:p47_phox_C	332	390	5.8e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144086

SMART Domains

Protein: ENSMUSP00000138547
Gene: ENSMUSG00000015950

Domain	Start	End	E-Value	Type
PX	4	121	2.14e-25	SMART
SH3	159	214	2.17e-17	SMART
SH3	229	284	1.02e-13	SMART
low complexity region	336	344	N/A	INTRINSIC
low complexity region	349	367	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146354

SMART Domains

Protein: ENSMUSP00000138121
Gene: ENSMUSG00000015950

Domain	Start	End	E-Value	Type
PX	4	121	2.14e-25	SMART
SH3	159	214	2.17e-17	SMART
SH3	229	284	1.02e-13	SMART
Pfam:p47_phox_C	332	390	5.8e-26	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.5%

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 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous disruption of this gene causes severe spontaneous infections and granulomatous inflammation and may alter synaptic plasticity and memory, RAS activation, blood pressure control, airway smooth muscle function, neointima formation, vasoconstriction and the response to myocardial infarction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	T	8: 125,366,098 (GRCm39)	I215N	probably damaging	Het
Aig1	T	C	10: 13,528,757 (GRCm39)		probably null	Het
Atp8b2	T	A	3: 89,861,865 (GRCm39)	K82N	possibly damaging	Het
Cacnb4	T	G	2: 52,359,615 (GRCm39)	Y131S	probably damaging	Het
Cep170b	G	A	12: 112,697,864 (GRCm39)	S62N	possibly damaging	Het
Crmp1	A	G	5: 37,422,619 (GRCm39)	D142G	probably benign	Het
Csf1r	A	G	18: 61,260,957 (GRCm39)	Q716R	possibly damaging	Het
Cyp2u1	T	C	3: 131,087,133 (GRCm39)	T483A	possibly damaging	Het
D930020B18Rik	T	C	10: 121,503,565 (GRCm39)	F247L	probably benign	Het
Dcaf13	T	C	15: 39,008,586 (GRCm39)	L396P	probably damaging	Het
Dnhd1	A	G	7: 105,353,240 (GRCm39)	M2798V	probably benign	Het
E030018B13Rik	A	T	7: 63,569,125 (GRCm39)	T58S	unknown	Het
Eipr1	T	C	12: 28,897,657 (GRCm39)		probably null	Het
Elf1	C	T	14: 79,817,948 (GRCm39)	T526M	possibly damaging	Het
Gm8369	GTGTGTGTGTGTGTGTGTGTG	GTGTGTGTGTGTGTGTGTGTGTG	19: 11,489,128 (GRCm39)		probably null	Het
Got1	A	G	19: 43,504,284 (GRCm39)	S46P	probably benign	Het
Inpp4b	T	C	8: 82,775,160 (GRCm39)	I786T	probably benign	Het
Kdm1a	T	C	4: 136,279,892 (GRCm39)	I703M	probably damaging	Het
Krt222	A	T	11: 99,125,838 (GRCm39)	S264R	probably benign	Het
Lrrd1	A	C	5: 3,899,982 (GRCm39)	S96R	possibly damaging	Het
Ltb	C	A	17: 35,414,906 (GRCm39)	Y235*	probably null	Het
Mbd2	T	A	18: 70,751,050 (GRCm39)	C362S	probably damaging	Het
Mlycd	T	A	8: 120,129,325 (GRCm39)	I264N	probably damaging	Het
Mri1	C	T	8: 84,980,933 (GRCm39)	C199Y	possibly damaging	Het
Muc5ac	A	T	7: 141,349,021 (GRCm39)	K487*	probably null	Het
Myh13	T	C	11: 67,249,016 (GRCm39)	I1274T	probably damaging	Het
Ncdn	G	A	4: 126,642,467 (GRCm39)	R397W	probably damaging	Het
Nipbl	C	A	15: 8,321,032 (GRCm39)	A2692S	probably benign	Het
Odf2l	C	T	3: 144,854,789 (GRCm39)	T542I	possibly damaging	Het
Or10a49	A	G	7: 108,467,698 (GRCm39)	I221T	probably damaging	Het
Or10al2	T	A	17: 37,983,145 (GRCm39)	I77N	probably damaging	Het
Oxsm	T	C	14: 16,242,629 (GRCm38)	T47A	possibly damaging	Het
Pcdhga3	A	T	18: 37,807,786 (GRCm39)	S80C	probably benign	Het
Pcnx2	T	C	8: 126,512,176 (GRCm39)	T1377A	probably benign	Het
Phactr3	C	A	2: 177,924,805 (GRCm39)	Q252K	possibly damaging	Het
Phf2	T	C	13: 48,973,101 (GRCm39)	H385R	unknown	Het
Pkd1l3	A	T	8: 110,357,937 (GRCm39)	T820S	probably benign	Het
Plekhg1	T	A	10: 3,887,966 (GRCm39)	H353Q		Het
Prss37	T	A	6: 40,494,713 (GRCm39)	E24V	probably damaging	Het
Reln	A	G	5: 22,155,943 (GRCm39)	F2183S	probably damaging	Het
Slc20a2	A	G	8: 23,051,407 (GRCm39)	D480G	probably damaging	Het
Slc8a2	C	T	7: 15,887,124 (GRCm39)	T672M	probably damaging	Het
Slf2	A	G	19: 44,961,666 (GRCm39)	T1062A	probably benign	Het
Snx29	A	G	16: 11,223,609 (GRCm39)	E18G	possibly damaging	Het
Spata31e1	C	T	13: 49,939,542 (GRCm39)	V723M	possibly damaging	Het
Srf	C	A	17: 46,860,079 (GRCm39)	G482V	possibly damaging	Het
Styk1	G	A	6: 131,287,992 (GRCm39)	Q124*	probably null	Het
Tcf7l1	G	T	6: 72,608,226 (GRCm39)	A385E	probably damaging	Het
Thbs4	A	G	13: 92,913,495 (GRCm39)	S142P	probably benign	Het
Tlr1	G	A	5: 65,083,371 (GRCm39)	S402F	probably damaging	Het
Tnrc6a	A	G	7: 122,769,635 (GRCm39)	H475R	probably benign	Het
Trmt10b	A	T	4: 45,314,374 (GRCm39)	N272I	probably damaging	Het
Ubxn7	A	T	16: 32,200,471 (GRCm39)	N409I	probably benign	Het
Vcan	T	C	13: 89,837,930 (GRCm39)	E2538G	probably damaging	Het
Vmn1r65	C	T	7: 6,011,387 (GRCm39)	W282*	probably null	Het
Vmn2r4	A	G	3: 64,322,497 (GRCm39)	I74T	probably benign	Het
Wdr97	T	A	15: 76,241,125 (GRCm39)	F574I		Het
Zfp949	T	C	9: 88,449,340 (GRCm39)		probably null	Het

Other mutations in Ncf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01532:Ncf1	APN	5	134,255,447 (GRCm39)	missense	probably benign	0.03
IGL02718:Ncf1	APN	5	134,256,302 (GRCm39)	critical splice donor site	probably null
R0143:Ncf1	UTSW	5	134,255,991 (GRCm39)	splice site	probably benign
R0313:Ncf1	UTSW	5	134,258,421 (GRCm39)	start codon destroyed	probably null	1.00
R0413:Ncf1	UTSW	5	134,251,656 (GRCm39)	splice site	probably benign
R2037:Ncf1	UTSW	5	134,258,406 (GRCm39)	missense	probably damaging	1.00
R2042:Ncf1	UTSW	5	134,255,494 (GRCm39)	missense	probably benign	0.00
R2511:Ncf1	UTSW	5	134,254,552 (GRCm39)	missense	probably damaging	0.99
R3545:Ncf1	UTSW	5	134,255,463 (GRCm39)	nonsense	probably null
R3547:Ncf1	UTSW	5	134,255,463 (GRCm39)	nonsense	probably null
R3548:Ncf1	UTSW	5	134,255,463 (GRCm39)	nonsense	probably null
R4751:Ncf1	UTSW	5	134,258,399 (GRCm39)	missense	probably damaging	1.00
R4989:Ncf1	UTSW	5	134,252,267 (GRCm39)	missense	probably damaging	0.98
R5288:Ncf1	UTSW	5	134,250,659 (GRCm39)	missense	probably damaging	1.00
R5384:Ncf1	UTSW	5	134,250,659 (GRCm39)	missense	probably damaging	1.00
R5385:Ncf1	UTSW	5	134,250,659 (GRCm39)	missense	probably damaging	1.00
R5590:Ncf1	UTSW	5	134,252,355 (GRCm39)	missense	probably damaging	0.98
R6059:Ncf1	UTSW	5	134,252,341 (GRCm39)	missense	probably damaging	1.00
R6136:Ncf1	UTSW	5	134,255,487 (GRCm39)	missense	probably damaging	1.00
R7023:Ncf1	UTSW	5	134,254,116 (GRCm39)	missense	possibly damaging	0.48
R7310:Ncf1	UTSW	5	134,250,615 (GRCm39)	missense	probably benign	0.04
R7618:Ncf1	UTSW	5	134,256,121 (GRCm39)	missense	probably benign	0.08
R7838:Ncf1	UTSW	5	134,250,949 (GRCm39)	missense	possibly damaging	0.55
R8787:Ncf1	UTSW	5	134,254,145 (GRCm39)	nonsense	probably null
R9227:Ncf1	UTSW	5	134,250,718 (GRCm39)	missense	probably benign	0.00
R9230:Ncf1	UTSW	5	134,250,718 (GRCm39)	missense	probably benign	0.00
R9276:Ncf1	UTSW	5	134,250,693 (GRCm39)	nonsense	probably null
R9733:Ncf1	UTSW	5	134,250,899 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATAGCCTCCCCTGGACCC -3'
(R):5'- GTTTCTGTGCTTCAGGGCC -3'

Sequencing Primer
(F):5'- ATATCCTCCCCTGGACCCC -3'
(R):5'- CACCACTCTGTTGAAGCT -3'

Posted On

2022-11-14