Mutagenetix > Incidental Mutation

Incidental Mutation 'R7310:Ncf1'

567495

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

045409-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134248907-134258479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 134250615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 402 (S402T)

Ref Sequence

ENSEMBL: ENSMUSP00000016094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016086] [ENSMUST00000016094] [ENSMUST00000111275] [ENSMUST00000123941] [ENSMUST00000144086] [ENSMUST00000146354] [ENSMUST00000152587]

AlphaFold

Q09014

Predicted Effect

probably benign
Transcript: ENSMUST00000016086

SMART Domains

Protein: ENSMUSP00000016086
Gene: ENSMUSG00000015942

Domain	Start	End	E-Value	Type
Pfam:GTF2I	104	178	6.1e-31	PFAM
Pfam:GTF2I	328	402	1.6e-25	PFAM
Blast:Tryp_SPc	436	491	4e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000016094
AA Change: S402T

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000016094
Gene: ENSMUSG00000015950
AA Change: S402T

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: S388T

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000106906
Gene: ENSMUSG00000015950
AA Change: S388T

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

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
AA Change: S388T

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000138121
Gene: ENSMUSG00000015950
AA Change: S388T

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: ENSMUST00000152587

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	T	11: 58,771,094 (GRCm39)	Q192L	possibly damaging	Het
Abat	G	A	16: 8,423,457 (GRCm39)	R250Q	probably null	Het
Abcg3	A	C	5: 105,114,632 (GRCm39)	F295C	probably benign	Het
Abl1	T	C	2: 31,690,604 (GRCm39)	S708P	possibly damaging	Het
Acap2	A	T	16: 30,926,972 (GRCm39)	Y489*	probably null	Het
Akr1c6	A	T	13: 4,486,354 (GRCm39)	M54L	probably benign	Het
Arhgap5	A	T	12: 52,589,270 (GRCm39)		probably null	Het
Asap1	A	G	15: 63,971,379 (GRCm39)		probably null	Het
Atrnl1	A	T	19: 57,630,856 (GRCm39)	N208Y	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	GTTCTGTGGTCACTG	GTTCTGTGGTCACTGATTCTGTGGTCACTG	3: 95,795,485 (GRCm39)		probably benign	Het
BC028528	G	GGGGTCACTGGTTCTT	3: 95,795,460 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,795,451 (GRCm39)		probably benign	Het
Bmi1	T	C	2: 18,689,230 (GRCm39)	S305P	probably benign	Het
Bpifc	T	A	10: 85,798,891 (GRCm39)	I431F	probably damaging	Het
C130050O18Rik	A	T	5: 139,400,993 (GRCm39)	M349L	probably benign	Het
Cacna2d1	A	T	5: 16,519,914 (GRCm39)	D428V	probably damaging	Het
Card14	A	C	11: 119,217,005 (GRCm39)	Q363P	probably null	Het
Cdca2	A	T	14: 67,950,673 (GRCm39)	L86H	probably damaging	Het
Cdh22	G	T	2: 164,954,214 (GRCm39)	S769*	probably null	Het
Cdhr17	A	G	5: 17,075,246 (GRCm39)	Y872C	possibly damaging	Het
Cep164	T	C	9: 45,686,664 (GRCm39)	E690G	probably damaging	Het
Cluh	A	G	11: 74,560,285 (GRCm39)	H1304R	probably benign	Het
Daxx	C	A	17: 34,129,435 (GRCm39)	D5E	possibly damaging	Het
Dnah7c	A	G	1: 46,636,127 (GRCm39)	M1117V	possibly damaging	Het
Entpd3	T	A	9: 120,389,821 (GRCm39)		probably null	Het
Esr1	G	A	10: 4,889,259 (GRCm39)	A386T	probably damaging	Het
Etv5	G	A	16: 22,220,487 (GRCm39)	P300L	probably benign	Het
Exoc3l	A	T	8: 106,020,340 (GRCm39)	L195Q	probably damaging	Het
Exog	T	C	9: 119,274,069 (GRCm39)	L18P	unknown	Het
Fgfr1	T	A	8: 26,052,331 (GRCm39)	V219D	probably benign	Het
Gna14	A	T	19: 16,511,113 (GRCm39)	Q54L		Het
Gnb5	T	C	9: 75,221,570 (GRCm39)	L48P	probably benign	Het
Gpbp1	A	G	13: 111,589,924 (GRCm39)	I57T	probably benign	Het
Hnrnpa1	T	A	15: 103,149,884 (GRCm39)	D48E	probably damaging	Het
Hrc	T	A	7: 44,985,227 (GRCm39)	L126*	probably null	Het
Hspa8	T	G	9: 40,714,704 (GRCm39)	D333E	probably benign	Het
Igsf3	T	A	3: 101,338,895 (GRCm39)	V403D	probably benign	Het
Itga10	C	A	3: 96,555,475 (GRCm39)	A143D	probably damaging	Het
Kdr	T	A	5: 76,104,985 (GRCm39)	I1082F	probably damaging	Het
Klk1b11	A	T	7: 43,428,254 (GRCm39)	I242F	probably damaging	Het
Kng2	G	A	16: 22,806,522 (GRCm39)	T559I	probably benign	Het
Map1b	G	A	13: 99,570,163 (GRCm39)	P853S	unknown	Het
Mmp13	T	C	9: 7,280,880 (GRCm39)	I421T	possibly damaging	Het
Mpeg1	A	T	19: 12,439,615 (GRCm39)	T358S	probably damaging	Het
Msantd5l	A	C	11: 51,145,474 (GRCm39)	W38G	probably damaging	Het
Mttp	T	C	3: 137,800,783 (GRCm39)	D759G	probably damaging	Het
Mup17	T	A	4: 61,511,929 (GRCm39)	Y115F	possibly damaging	Het
Myo1a	G	T	10: 127,541,697 (GRCm39)	A79S	probably damaging	Het
Myo9a	T	A	9: 59,778,436 (GRCm39)	N1397K	probably benign	Het
Nadk2	T	C	15: 9,103,469 (GRCm39)		probably null	Het
Ndufb10	T	C	17: 24,941,188 (GRCm39)	D145G	probably damaging	Het
Nlgn2	G	A	11: 69,721,409 (GRCm39)	T163M	possibly damaging	Het
Nol4	A	T	18: 22,903,801 (GRCm39)	H172Q		Het
Nup205	T	A	6: 35,202,904 (GRCm39)	D1370E	possibly damaging	Het
Or1e32	A	C	11: 73,705,112 (GRCm39)	N265K	probably damaging	Het
Or51ab3	T	A	7: 103,201,892 (GRCm39)	I300N	probably damaging	Het
Or5b97	A	G	19: 12,878,637 (GRCm39)	F169S	probably damaging	Het
Pkd1l2	A	G	8: 117,750,773 (GRCm39)	V1746A	probably benign	Het
Plin2	T	A	4: 86,586,628 (GRCm39)	I68F	probably benign	Het
Proc	A	T	18: 32,268,952 (GRCm39)	M11K	probably benign	Het
Rif1	T	C	2: 51,995,631 (GRCm39)	V950A	probably benign	Het
Rmc1	A	G	18: 12,317,972 (GRCm39)	K362E	probably benign	Het
Rnf208	C	A	2: 25,133,587 (GRCm39)	P94T	probably damaging	Het
Rundc3b	A	T	5: 8,571,011 (GRCm39)	Y269*	probably null	Het
Senp7	T	C	16: 56,006,445 (GRCm39)	V950A	probably benign	Het
Sipa1l1	T	C	12: 82,419,269 (GRCm39)	V649A	probably damaging	Het
Sipa1l3	G	T	7: 29,099,121 (GRCm39)	H383N	probably benign	Het
Slc12a5	G	A	2: 164,834,360 (GRCm39)	V794M	probably damaging	Het
Slc7a7	A	G	14: 54,616,482 (GRCm39)	I200T	probably damaging	Het
Spdye4b	A	C	5: 143,188,103 (GRCm39)	I199L	probably damaging	Het
Styxl2	G	A	1: 165,926,300 (GRCm39)	T1104I	possibly damaging	Het
Tle4	A	T	19: 14,495,155 (GRCm39)	H191Q	probably benign	Het
Tnfsf13b	C	A	8: 10,081,651 (GRCm39)	S271*	probably null	Het
Tnks2	G	A	19: 36,856,839 (GRCm39)	V855I	probably benign	Het
Trank1	T	C	9: 111,196,194 (GRCm39)	L1406S	probably damaging	Het
Trhde	T	C	10: 114,636,478 (GRCm39)	E243G	probably damaging	Het
Trim25	A	T	11: 88,906,608 (GRCm39)	N448I	probably benign	Het
Trim31	T	A	17: 37,218,194 (GRCm39)	M308K	probably benign	Het
Ugt2b36	A	T	5: 87,214,138 (GRCm39)	V502E	possibly damaging	Het
Usp10	A	C	8: 120,668,344 (GRCm39)	D215A	possibly damaging	Het
Usp33	T	G	3: 152,066,026 (GRCm39)	L102*	probably null	Het
Wdr12	A	T	1: 60,121,734 (GRCm39)	C272*	probably null	Het
Xndc1	A	C	7: 101,727,938 (GRCm39)		probably null	Het
Zkscan2	T	C	7: 123,089,276 (GRCm39)	I332V	possibly damaging	Het
Zswim5	A	T	4: 116,841,885 (GRCm39)	T822S	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
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
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'- CATGCTAGCAATACCGGTGG -3'
(R):5'- GCAGAGGTAAGTTCTTAGGGTTCC -3'

Sequencing Primer
(F):5'- GTGGAGATTAACCCAGTCCTGTC -3'
(R):5'- ATCAGGACTAGAAACTGCGAGCAC -3'

Posted On

2019-06-26