Mutagenetix > Incidental Mutation

Incidental Mutation 'R7023:Ncf1'

545757

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

045124-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7023 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134248907-134258479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 134254116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 219 (A219E)

Ref Sequence

ENSEMBL: ENSMUSP00000016094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016094] [ENSMUST00000111275] [ENSMUST00000123941] [ENSMUST00000144086] [ENSMUST00000146354]

AlphaFold

Q09014

Predicted Effect

possibly damaging
Transcript: ENSMUST00000016094
AA Change: A219E

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000016094
Gene: ENSMUSG00000015950
AA Change: A219E

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
AA Change: A219E

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106906
Gene: ENSMUSG00000015950
AA Change: A219E

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: ENSMUST00000123941

Predicted Effect

probably benign
Transcript: ENSMUST00000144086
AA Change: A219E

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000138547
Gene: ENSMUSG00000015950
AA Change: A219E

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
AA Change: A219E

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000138121
Gene: ENSMUSG00000015950
AA Change: A219E

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,610,443 (GRCm39)	H372R	probably benign	Het
4933405O20Rik	T	C	7: 50,250,001 (GRCm39)	I345T	probably damaging	Het
4933427D14Rik	A	G	11: 72,069,229 (GRCm39)		probably null	Het
6430548M08Rik	T	C	8: 120,872,096 (GRCm39)	V8A	probably damaging	Het
Adam2	A	T	14: 66,280,505 (GRCm39)	D501E	probably benign	Het
Agbl3	T	C	6: 34,791,704 (GRCm39)	V602A	probably benign	Het
Akap12	T	C	10: 4,306,895 (GRCm39)	M1235T	probably benign	Het
Arid5a	G	A	1: 36,356,631 (GRCm39)		probably benign	Het
Asxl1	T	A	2: 153,242,469 (GRCm39)	D1006E	probably benign	Het
AY074887	T	C	9: 54,858,149 (GRCm39)		probably benign	Het
Btbd9	T	A	17: 30,746,546 (GRCm39)	R93S	probably benign	Het
Cabp2	A	T	19: 4,132,658 (GRCm39)		probably null	Het
Cacna1e	T	C	1: 154,601,439 (GRCm39)	D76G	probably null	Het
Cd177	A	G	7: 24,459,187 (GRCm39)	I74T	probably benign	Het
Chchd1	G	A	14: 20,753,310 (GRCm39)		probably benign	Het
Col28a1	T	C	6: 8,083,763 (GRCm39)	R565G	possibly damaging	Het
Cpvl	T	A	6: 53,944,797 (GRCm39)	I80F	probably benign	Het
Csgalnact1	T	C	8: 68,811,081 (GRCm39)	T530A	probably benign	Het
Cybrd1	A	G	2: 70,968,922 (GRCm39)	D265G	probably benign	Het
Cyp2c69	A	T	19: 39,865,986 (GRCm39)	N202K	probably benign	Het
D1Pas1	A	G	1: 186,700,205 (GRCm39)	N45D	probably damaging	Het
Dclre1a	A	G	19: 56,528,638 (GRCm39)	V839A	probably damaging	Het
Degs1	A	T	1: 182,106,630 (GRCm39)	Y210N	probably damaging	Het
Doc2g	A	G	19: 4,054,778 (GRCm39)	S220G	probably benign	Het
Epb41l2	T	A	10: 25,388,875 (GRCm39)	L885Q	probably damaging	Het
Fabp1	A	T	6: 71,180,069 (GRCm39)		probably null	Het
Fat2	G	A	11: 55,201,328 (GRCm39)	S582L	probably benign	Het
Fcgbpl1	T	A	7: 27,839,463 (GRCm39)	C425*	probably null	Het
Fras1	A	G	5: 96,857,943 (GRCm39)	N2079S	probably benign	Het
Gdf6	T	C	4: 9,860,210 (GRCm39)	Y431H	probably damaging	Het
Gfra1	A	T	19: 58,442,764 (GRCm39)	L6Q	probably damaging	Het
Gm45861	T	G	8: 28,071,034 (GRCm39)	S1305A	unknown	Het
Gse1	T	C	8: 120,957,387 (GRCm39)		probably benign	Het
Kmt2e	A	G	5: 23,705,485 (GRCm39)	H1303R	possibly damaging	Het
Lck	T	C	4: 129,442,658 (GRCm39)	D499G	possibly damaging	Het
Lepr	A	T	4: 101,646,484 (GRCm39)	Y805F	probably damaging	Het
Lin7a	A	T	10: 107,218,489 (GRCm39)	Y11F	possibly damaging	Het
Lrrc43	A	G	5: 123,641,826 (GRCm39)	K559E	probably damaging	Het
Megf6	T	C	4: 154,338,602 (GRCm39)	L467P	possibly damaging	Het
Mprip	G	A	11: 59,628,215 (GRCm39)	G221R	probably damaging	Het
Myo5c	T	C	9: 75,208,738 (GRCm39)	V1683A	probably damaging	Het
Nbeal2	G	A	9: 110,467,686 (GRCm39)	R501W	probably damaging	Het
Nckap1l	T	C	15: 103,384,493 (GRCm39)	I616T	probably benign	Het
Nlrp2	A	T	7: 5,331,228 (GRCm39)	C389*	probably null	Het
Nrg3	T	C	14: 38,098,333 (GRCm39)	E507G	probably damaging	Het
Or4p19	A	G	2: 88,242,759 (GRCm39)	L81P	probably damaging	Het
P4ha2	A	T	11: 54,022,072 (GRCm39)	T532S	probably benign	Het
Pappa	A	T	4: 65,269,955 (GRCm39)	H1623L	probably benign	Het
Paqr6	A	G	3: 88,273,353 (GRCm39)	Y115C	probably damaging	Het
Pcolce2	A	T	9: 95,560,521 (GRCm39)	Q190L	probably benign	Het
Poll	A	G	19: 45,547,277 (GRCm39)	I65T	probably benign	Het
Prmt9	T	C	8: 78,276,086 (GRCm39)		probably benign	Het
Prpf39	T	C	12: 65,100,074 (GRCm39)	V130A	possibly damaging	Het
Prpf6	A	G	2: 181,262,433 (GRCm39)	D144G	probably damaging	Het
Rgs6	T	A	12: 83,138,878 (GRCm39)		probably benign	Het
Rimbp2	A	G	5: 128,879,847 (GRCm39)		probably null	Het
Ripor2	A	G	13: 24,855,829 (GRCm39)	T90A	probably benign	Het
Rnf150	T	C	8: 83,590,706 (GRCm39)	F23S	probably damaging	Het
Rpp40	G	A	13: 36,082,889 (GRCm39)	R200W	possibly damaging	Het
Rtp3	G	A	9: 110,815,714 (GRCm39)	S217L	probably benign	Het
Sacs	A	C	14: 61,446,264 (GRCm39)	K2770T	probably benign	Het
Scn10a	A	T	9: 119,442,610 (GRCm39)	I1545N	probably damaging	Het
Scn2b	G	T	9: 45,037,438 (GRCm39)	V162L	probably damaging	Het
Sema6d	A	G	2: 124,506,831 (GRCm39)	T880A	probably damaging	Het
Slc36a4	A	G	9: 15,630,929 (GRCm39)	D16G	probably benign	Het
Slc4a8	T	A	15: 100,689,524 (GRCm39)	I378K	probably benign	Het
Smco2	T	A	6: 146,760,354 (GRCm39)	L70*	probably null	Het
Sptb	C	T	12: 76,671,862 (GRCm39)	V364I	probably damaging	Het
Susd4	A	G	1: 182,592,613 (GRCm39)	H3R	probably damaging	Het
Tbc1d16	T	C	11: 119,049,617 (GRCm39)	Q293R	probably damaging	Het
Tnfsf9	T	A	17: 57,414,317 (GRCm39)	M248K	possibly damaging	Het
Toporsl	A	G	4: 52,611,211 (GRCm39)	N368S	possibly damaging	Het
Trip11	T	C	12: 101,852,126 (GRCm39)	E361G	probably benign	Het
Trrap	T	A	5: 144,728,964 (GRCm39)	M626K	possibly damaging	Het
Ttn	A	T	2: 76,773,218 (GRCm39)	S2395T	probably damaging	Het
Ubqln3	T	C	7: 103,790,630 (GRCm39)	R487G	probably damaging	Het
Vdac1	A	G	11: 52,265,193 (GRCm39)	Y22C	probably damaging	Het
Vmn1r59	C	T	7: 5,457,477 (GRCm39)	M94I	probably benign	Het
Vmn2r10	G	T	5: 109,149,894 (GRCm39)	D383E	probably damaging	Het
Vmn2r115	T	C	17: 23,578,785 (GRCm39)	Y753H	probably damaging	Het
Vmn2r97	G	T	17: 19,134,663 (GRCm39)	C27F	probably damaging	Het
Wasf1	T	A	10: 40,812,471 (GRCm39)	V420E	unknown	Het
Zfp94	A	T	7: 24,002,821 (GRCm39)	L201Q	probably damaging	Het
Zgpat	TGGAGGAGGAGGAGGAGGA	TGGAGGAGGAGGAGGA	2: 181,007,811 (GRCm39)		probably benign	Het
Zmym4	C	A	4: 126,762,593 (GRCm39)	R1410L	probably damaging	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
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
R9778:Ncf1	UTSW	5	134,258,444 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGGTACCAGACTCCACATTGC -3'
(R):5'- GACATTGGTGAGTGTGAGCAC -3'

Sequencing Primer
(F):5'- ACATTGCTCACATGGTCCTGG -3'
(R):5'- TGAGCACTGGGTGTCCTCAC -3'

Posted On

2019-05-13