Mutagenetix > Incidental Mutation

Incidental Mutation 'R3547:Ncf1'

268246

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

040666-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3547 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134248907-134258479 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 134255463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 143 (K143*)

Ref Sequence

ENSEMBL: ENSMUSP00000138121 (fasta)

Gene Model

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

AlphaFold

Q09014

Predicted Effect

probably null
Transcript: ENSMUST00000016094
AA Change: K143*

SMART Domains

Protein: ENSMUSP00000016094
Gene: ENSMUSG00000015950
AA Change: K143*

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 null
Transcript: ENSMUST00000111275
AA Change: K143*

SMART Domains

Protein: ENSMUSP00000106906
Gene: ENSMUSG00000015950
AA Change: K143*

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

noncoding transcript
Transcript: ENSMUST00000126934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139249

Predicted Effect

probably null
Transcript: ENSMUST00000144086
AA Change: K143*

SMART Domains

Protein: ENSMUSP00000138547
Gene: ENSMUSG00000015950
AA Change: K143*

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 null
Transcript: ENSMUST00000146354
AA Change: K143*

SMART Domains

Protein: ENSMUSP00000138121
Gene: ENSMUSG00000015950
AA Change: K143*

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

noncoding transcript
Transcript: ENSMUST00000182626

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.9%

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 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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg5	A	G	3: 54,656,736 (GRCm39)	R316G	probably benign	Het
Anapc1	T	C	2: 128,484,602 (GRCm39)	N1121D	possibly damaging	Het
Antxr2	A	T	5: 98,125,516 (GRCm39)	I247N	probably benign	Het
Arid5b	C	T	10: 67,934,292 (GRCm39)	G294S	probably benign	Het
Arl9	A	G	5: 77,158,326 (GRCm39)	D136G	probably benign	Het
Atxn1l	A	G	8: 110,458,981 (GRCm39)	L427P	possibly damaging	Het
Celf3	T	G	3: 94,395,845 (GRCm39)	C304G	probably damaging	Het
Clcc1	T	A	3: 108,575,429 (GRCm39)	C169S	probably benign	Het
Clec4a3	A	G	6: 122,941,239 (GRCm39)	E78G	probably damaging	Het
Clip1	A	G	5: 123,769,141 (GRCm39)	L532P	probably damaging	Het
Col12a1	T	G	9: 79,540,698 (GRCm39)	K2429T	probably damaging	Het
Col20a1	G	T	2: 180,636,704 (GRCm39)	E228D	probably damaging	Het
Cx3cl1	A	C	8: 95,504,752 (GRCm39)	E56A	possibly damaging	Het
Eprs1	G	A	1: 185,111,939 (GRCm39)		probably null	Het
Fap	A	C	2: 62,349,355 (GRCm39)	L478R	probably damaging	Het
Fhit	T	C	14: 9,870,095 (GRCm38)	T125A	probably benign	Het
Gdi1	T	A	X: 73,351,414 (GRCm39)	F175L	possibly damaging	Het
Golga7b	T	C	19: 42,255,510 (GRCm39)	M129T	possibly damaging	Het
Gpr149	A	T	3: 62,502,549 (GRCm39)	C436S	probably benign	Het
Grid2	T	C	6: 64,297,005 (GRCm39)	V456A	probably damaging	Het
Gstcd	G	T	3: 132,790,599 (GRCm39)	T56K	possibly damaging	Het
Hydin	G	A	8: 111,308,699 (GRCm39)	G3995D	possibly damaging	Het
Igkv4-50	G	A	6: 69,677,765 (GRCm39)	T113I	probably benign	Het
Igkv5-43	A	G	6: 69,753,240 (GRCm39)		probably benign	Het
Igsf10	G	A	3: 59,237,962 (GRCm39)	H740Y	probably benign	Het
Igsf10	C	A	3: 59,243,935 (GRCm39)	R133L	probably damaging	Het
Lcmt1	A	G	7: 122,999,702 (GRCm39)	E94G	probably benign	Het
Lrp1b	A	T	2: 40,490,300 (GRCm39)	L287H	probably damaging	Het
Ly6m	C	A	15: 74,753,463 (GRCm39)	A18S	probably null	Het
Map3k3	C	T	11: 106,033,379 (GRCm39)	Q211*	probably null	Het
Map4	T	A	9: 109,881,266 (GRCm39)	F43L	possibly damaging	Het
Mcf2	T	C	X: 59,180,806 (GRCm39)	K74R	probably damaging	Het
Mylk	G	A	16: 34,700,538 (GRCm39)	V460I	possibly damaging	Het
Nat1	A	G	8: 67,943,684 (GRCm39)	D23G	possibly damaging	Het
Nbeal1	T	C	1: 60,317,939 (GRCm39)	F1959L	probably damaging	Het
Nlrp6	T	G	7: 140,506,682 (GRCm39)	V849G	probably benign	Het
Or52b3	A	G	7: 102,203,677 (GRCm39)	Y62C	probably damaging	Het
Pi4k2a	C	T	19: 42,078,987 (GRCm39)	P16L	probably benign	Het
Pitx3	T	A	19: 46,124,548 (GRCm39)	Q273L	possibly damaging	Het
Ppp1r27	T	A	11: 120,441,511 (GRCm39)	I90F	probably damaging	Het
Prickle2	T	C	6: 92,388,118 (GRCm39)	Y428C	probably damaging	Het
Prkcq	A	G	2: 11,288,627 (GRCm39)	K527E	probably benign	Het
Prune2	T	A	19: 17,101,712 (GRCm39)	S2405R	probably damaging	Het
Reln	A	G	5: 22,432,598 (GRCm39)	V134A	possibly damaging	Het
Rnf167	T	C	11: 70,540,507 (GRCm39)	I129T	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sfxn2	T	C	19: 46,578,635 (GRCm39)	S217P	probably damaging	Het
Slc16a7	T	A	10: 125,130,569 (GRCm39)	K39*	probably null	Het
Slc22a17	A	G	14: 55,144,694 (GRCm39)	L573P	probably damaging	Het
Slc25a45	T	C	19: 5,934,574 (GRCm39)	Y181H	probably damaging	Het
Slc6a20a	A	G	9: 123,489,567 (GRCm39)	S159P	probably damaging	Het
Tbc1d1	G	A	5: 64,443,350 (GRCm39)	R523Q	probably damaging	Het
Thnsl1	T	G	2: 21,217,438 (GRCm39)	D397E	probably benign	Het
Ttn	T	A	2: 76,575,450 (GRCm39)	I25148F	probably damaging	Het
Ube4b	T	C	4: 149,419,573 (GRCm39)	D1045G	probably damaging	Het
Ugt8a	A	T	3: 125,661,031 (GRCm39)	L487*	probably null	Het
Uprt	T	A	X: 103,526,934 (GRCm39)	L123H	probably damaging	Het
Usp9x	T	C	X: 12,994,629 (GRCm39)	L940P	probably benign	Het
Utp20	T	C	10: 88,618,551 (GRCm39)	K1150E	probably damaging	Het
Uty	A	C	Y: 1,158,512 (GRCm39)	D463E	possibly damaging	Het
Vmn1r7	A	G	6: 57,001,834 (GRCm39)	I142T	possibly damaging	Het
Vps13d	T	G	4: 144,801,545 (GRCm39)	T3558P	probably damaging	Het
Zfp319	A	G	8: 96,055,445 (GRCm39)	S253P	probably damaging	Het
Zfp831	A	G	2: 174,499,476 (GRCm39)	S1265G	probably benign	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
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
R9778:Ncf1	UTSW	5	134,258,444 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CCCCAATCTCCAAGGTGACATG -3'
(R):5'- AAGTATGGCTGCATAGACACCC -3'

Sequencing Primer
(F):5'- GGTGACATGACCCCATAGC -3'
(R):5'- CCTCATTTGTAAGACACTCTGTG -3'

Posted On

2015-02-19