Mutagenetix > Incidental Mutation

Incidental Mutation 'R2042:Ncf1'

225051

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

040049-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2042 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134248907-134258479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 134255494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 132 (Q132H)

Ref Sequence

ENSEMBL: ENSMUSP00000138121 (fasta)

Gene Model

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

AlphaFold

Q09014

Predicted Effect

probably benign
Transcript: ENSMUST00000016094
AA Change: Q132H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000016094
Gene: ENSMUSG00000015950
AA Change: Q132H

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: Q132H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000106906
Gene: ENSMUSG00000015950
AA Change: Q132H

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 benign
Transcript: ENSMUST00000144086
AA Change: Q132H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138547
Gene: ENSMUSG00000015950
AA Change: Q132H

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: Q132H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000138121
Gene: ENSMUSG00000015950
AA Change: Q132H

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

0.0633

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (67/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	A	3: 124,210,377 (GRCm39)		probably benign	Het
Abca16	G	A	7: 120,143,941 (GRCm39)	R1653Q	probably benign	Het
Ahnak2	T	A	12: 112,749,439 (GRCm39)	Y176F	probably damaging	Het
Ano6	T	C	15: 95,853,904 (GRCm39)		probably null	Het
Atr	T	C	9: 95,752,075 (GRCm39)	L564S	probably benign	Het
Birc6	C	G	17: 74,916,654 (GRCm39)	A1774G	probably damaging	Het
Cacng1	C	T	11: 107,595,134 (GRCm39)	A148T	probably damaging	Het
Cd53	T	A	3: 106,674,740 (GRCm39)		probably null	Het
Celsr2	A	G	3: 108,309,811 (GRCm39)	F1596S	probably damaging	Het
Cep120	A	T	18: 53,868,814 (GRCm39)	F122I	possibly damaging	Het
Ckm	A	T	7: 19,148,082 (GRCm39)	H7L	possibly damaging	Het
Crybg2	T	C	4: 133,814,844 (GRCm39)	V1575A	possibly damaging	Het
Cspp1	A	G	1: 10,182,763 (GRCm39)	E712G	probably damaging	Het
Cyp2b23	C	A	7: 26,365,533 (GRCm39)	R434L	probably damaging	Het
D630003M21Rik	A	T	2: 158,057,769 (GRCm39)	S570T	probably damaging	Het
Dmbt1	A	G	7: 130,708,089 (GRCm39)	I1444V	probably damaging	Het
Dnah8	T	C	17: 30,854,632 (GRCm39)	V98A	probably benign	Het
Dtx1	T	G	5: 120,832,541 (GRCm39)	N299T	probably benign	Het
Efr3b	T	A	12: 4,034,627 (GRCm39)	D65V	probably damaging	Het
Eml4	T	C	17: 83,755,607 (GRCm39)	C323R	probably damaging	Het
Eps15	C	T	4: 109,161,964 (GRCm39)	T31I	probably damaging	Het
Fam91a1	A	G	15: 58,298,443 (GRCm39)	I184V	probably benign	Het
Fbxl8	A	T	8: 105,994,856 (GRCm39)	I123F	probably damaging	Het
Fbxw26	T	G	9: 109,561,772 (GRCm39)	T141P	probably damaging	Het
Fhip1b	G	T	7: 105,033,328 (GRCm39)	Y629*	probably null	Het
Glra3	G	A	8: 56,515,494 (GRCm39)	D190N	probably benign	Het
Hspg2	T	C	4: 137,295,677 (GRCm39)	L4229P	probably damaging	Het
Ipmk	C	T	10: 71,199,333 (GRCm39)	R65W	probably damaging	Het
Irs2	A	G	8: 11,057,580 (GRCm39)	I284T	probably damaging	Het
Klhl22	T	C	16: 17,610,284 (GRCm39)		probably benign	Het
Lmcd1	T	A	6: 112,292,851 (GRCm39)	D234E	probably benign	Het
Lrrc14b	T	C	13: 74,511,561 (GRCm39)	K173R	probably benign	Het
Magi1	A	T	6: 93,732,026 (GRCm39)	N209K	probably benign	Het
Mak	A	C	13: 41,202,912 (GRCm39)	S179A	possibly damaging	Het
Map3k4	C	A	17: 12,496,870 (GRCm39)	R87L	probably damaging	Het
Map4k1	T	C	7: 28,683,555 (GRCm39)	L53P	probably damaging	Het
Melk	T	C	4: 44,309,051 (GRCm39)		probably null	Het
Mks1	C	T	11: 87,747,494 (GRCm39)		probably benign	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
N4bp2	C	T	5: 65,983,964 (GRCm39)	P1670S	probably damaging	Het
Nemp1	T	C	10: 127,532,203 (GRCm39)	S370P	possibly damaging	Het
Nt5c3b	T	C	11: 100,327,020 (GRCm39)	H92R	probably benign	Het
Or12j2	T	C	7: 139,915,850 (GRCm39)	L25P	probably damaging	Het
Or4p19	G	A	2: 88,242,546 (GRCm39)	A152V	possibly damaging	Het
P4ha3	T	C	7: 99,949,897 (GRCm39)		probably null	Het
Pcnx1	C	A	12: 81,965,067 (GRCm39)	H411Q	probably damaging	Het
Podxl	A	G	6: 31,500,051 (GRCm39)	V473A	possibly damaging	Het
Prkd2	T	C	7: 16,590,193 (GRCm39)	S530P	possibly damaging	Het
Scin	A	G	12: 40,127,509 (GRCm39)	I427T	possibly damaging	Het
Sgo2b	T	C	8: 64,381,561 (GRCm39)	T424A	probably benign	Het
Slc22a2	T	C	17: 12,818,012 (GRCm39)	I196T	probably benign	Het
Slc47a2	C	A	11: 61,228,908 (GRCm39)	V90L	probably benign	Het
Slc4a7	G	A	14: 14,737,386 (GRCm38)	V99M	probably damaging	Het
Spata31f3	C	T	4: 42,874,030 (GRCm39)	C46Y	possibly damaging	Het
Sprr2k	T	C	3: 92,340,763 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,039,213 (GRCm39)	M1185I	probably benign	Het
Tent5b	T	C	4: 133,213,924 (GRCm39)	V265A	possibly damaging	Het
Uaca	T	C	9: 60,777,173 (GRCm39)	V518A	probably damaging	Het
Ubr3	C	T	2: 69,808,118 (GRCm39)	Q1200*	probably null	Het
Ufm1	A	G	3: 53,766,702 (GRCm39)		probably benign	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp142	G	A	1: 74,609,778 (GRCm39)	T1236I	probably benign	Het
Zfp236	A	G	18: 82,651,234 (GRCm39)	Y845H	probably damaging	Het
Zfp747l1	A	T	7: 126,984,641 (GRCm39)	C154S	possibly damaging	Het
Zfp787	T	C	7: 6,135,763 (GRCm39)	K163E	possibly 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
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
R9778:Ncf1	UTSW	5	134,258,444 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CCCAATCTCCAAGGTGACATG -3'
(R):5'- CCTAAGTATGGCTGCATAGACAC -3'

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

Posted On

2014-08-25