Mutagenetix > Incidental Mutation

Incidental Mutation 'R5385:Ncf1'

425066

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5385 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134248907-134258479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134250659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 373 (L373P)

Ref Sequence

ENSEMBL: ENSMUSP00000138121 (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 damaging
Transcript: ENSMUST00000016094
AA Change: L387P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000016094
Gene: ENSMUSG00000015950
AA Change: L387P

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 damaging
Transcript: ENSMUST00000111275
AA Change: L373P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106906
Gene: ENSMUSG00000015950
AA Change: L373P

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

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

noncoding transcript
Transcript: ENSMUST00000182626

Predicted Effect

probably damaging
Transcript: ENSMUST00000146354
AA Change: L373P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138121
Gene: ENSMUSG00000015950
AA Change: L373P

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	T	C	10: 80,421,446 (GRCm39)	T175A	probably benign	Het
Adam23	A	G	1: 63,590,970 (GRCm39)	D479G	possibly damaging	Het
Adgrl3	T	G	5: 81,874,648 (GRCm39)	Y1050D	probably damaging	Het
Ago4	A	G	4: 126,411,349 (GRCm39)	I103T	probably benign	Het
Ajuba	T	C	14: 54,807,855 (GRCm39)	Y459C	probably damaging	Het
Aldh7a1	T	A	18: 56,667,325 (GRCm39)	N316Y	possibly damaging	Het
Alyref2	A	G	1: 171,331,271 (GRCm39)	N16S	probably benign	Het
Ankhd1	A	G	18: 36,724,548 (GRCm39)	E402G	probably damaging	Het
Ankrd36	A	G	11: 5,639,340 (GRCm39)		probably benign	Het
Ap2b1	T	C	11: 83,233,427 (GRCm39)	V480A	probably damaging	Het
Arhgap30	A	G	1: 171,235,848 (GRCm39)	R741G	probably benign	Het
Canx	A	G	11: 50,192,639 (GRCm39)	L325P	probably damaging	Het
Ccpg1	G	A	9: 72,920,326 (GRCm39)	S647N	probably benign	Het
Cdc37l1	T	G	19: 28,989,343 (GRCm39)	S267A	possibly damaging	Het
Cert1	A	G	13: 96,765,575 (GRCm39)	T447A	possibly damaging	Het
Ces1f	A	T	8: 93,992,388 (GRCm39)	C354*	probably null	Het
Cpne1	A	T	2: 155,916,284 (GRCm39)	V350D	probably damaging	Het
Ctdsp2	A	G	10: 126,832,326 (GRCm39)	T262A	probably benign	Het
Cypt4	A	G	9: 24,536,596 (GRCm39)	K29E	possibly damaging	Het
Dlg2	T	C	7: 91,737,784 (GRCm39)	V422A	probably damaging	Het
Dmxl2	A	G	9: 54,286,041 (GRCm39)	S2715P	probably benign	Het
Dnah3	T	A	7: 119,524,126 (GRCm39)	K3953N	probably damaging	Het
Dnmt1	A	G	9: 20,829,776 (GRCm39)	V647A	probably damaging	Het
Duox2	A	G	2: 122,125,617 (GRCm39)	V330A	probably benign	Het
Dusp8	T	A	7: 141,643,730 (GRCm39)	Q61L	possibly damaging	Het
Dync2h1	T	C	9: 7,016,791 (GRCm39)	D3573G	probably damaging	Het
Ears2	G	C	7: 121,643,600 (GRCm39)	T426S	probably benign	Het
Ext1	C	A	15: 52,939,213 (GRCm39)	W612L	probably damaging	Het
Fam91a1	G	A	15: 58,320,243 (GRCm39)	S645N	probably benign	Het
Fat3	A	T	9: 15,833,971 (GRCm39)	L4207Q	possibly damaging	Het
Fbxo38	A	G	18: 62,674,042 (GRCm39)	M13T	probably benign	Het
Fbxo48	G	T	11: 16,904,329 (GRCm39)	L160F	possibly damaging	Het
Fer1l4	G	A	2: 155,879,286 (GRCm39)	Q906*	probably null	Het
Fpr2	C	A	17: 18,113,309 (GRCm39)	H102N	probably benign	Het
Gm10134	T	A	2: 28,396,372 (GRCm39)		probably benign	Het
Gpr107	A	G	2: 31,104,263 (GRCm39)	T523A	probably benign	Het
Grin3a	G	A	4: 49,719,313 (GRCm39)	P811L	probably damaging	Het
Hivep1	A	T	13: 42,317,871 (GRCm39)		probably null	Het
Hmcn2	A	G	2: 31,350,333 (GRCm39)	T5077A	probably benign	Het
Hpse	C	T	5: 100,856,590 (GRCm39)	W136*	probably null	Het
Ifitm3	T	C	7: 140,590,554 (GRCm39)	N2S	probably benign	Het
Ifnar2	T	A	16: 91,201,086 (GRCm39)	D442E	possibly damaging	Het
Jade1	T	A	3: 41,546,137 (GRCm39)	I54N	probably damaging	Het
Jag1	A	T	2: 136,937,464 (GRCm39)	H303Q	possibly damaging	Het
Kcnh4	T	C	11: 100,643,076 (GRCm39)	D397G	probably damaging	Het
Kcnj1	A	G	9: 32,308,019 (GRCm39)	R148G	probably damaging	Het
Lct	T	G	1: 128,239,354 (GRCm39)	K277N	possibly damaging	Het
Loxl3	A	G	6: 83,027,593 (GRCm39)	M712V	probably damaging	Het
Ly75	A	G	2: 60,133,985 (GRCm39)	C1547R	probably damaging	Het
Marcks	A	G	10: 37,014,453 (GRCm39)	S27P	probably damaging	Het
Mef2c	A	G	13: 83,810,532 (GRCm39)	T347A	probably benign	Het
Mmp3	C	T	9: 7,451,759 (GRCm39)	R366*	probably null	Het
Mrgprx2	T	C	7: 48,132,753 (GRCm39)	T22A	probably benign	Het
Msc	C	A	1: 14,825,644 (GRCm39)	R110L	probably damaging	Het
Mtcl3	A	G	10: 29,072,766 (GRCm39)	D686G	probably benign	Het
Myh11	A	T	16: 14,025,872 (GRCm39)	V1366D	possibly damaging	Het
Neb	A	T	2: 52,079,873 (GRCm39)	I85N	probably damaging	Het
Nfkb1	A	G	3: 135,318,303 (GRCm39)	V310A	possibly damaging	Het
Nop2	T	C	6: 125,121,324 (GRCm39)	V702A	probably benign	Het
Nudt12	A	G	17: 59,310,434 (GRCm39)	W390R	probably damaging	Het
Or10ag53	C	T	2: 87,082,827 (GRCm39)	P182L	probably benign	Het
Or10v9	T	A	19: 11,832,541 (GRCm39)	I259F	probably damaging	Het
Or11g24	T	A	14: 50,662,846 (GRCm39)	V290E	possibly damaging	Het
Or1af1	G	T	2: 37,109,599 (GRCm39)	A33S	possibly damaging	Het
Or51e1	T	C	7: 102,358,553 (GRCm39)	L29P	probably damaging	Het
Or6c208	A	G	10: 129,223,633 (GRCm39)	I44V	probably benign	Het
Or6n2	A	T	1: 173,897,036 (GRCm39)	K57N	probably benign	Het
Or8a1b	A	T	9: 37,623,317 (GRCm39)	V86E	probably damaging	Het
Or8c11	A	T	9: 38,289,281 (GRCm39)	I29F	probably benign	Het
Or8g2b	A	G	9: 39,751,126 (GRCm39)	Y132C	possibly damaging	Het
Otub2	G	A	12: 103,359,055 (GRCm39)		probably benign	Het
Pck2	A	G	14: 55,782,688 (GRCm39)	E339G	probably damaging	Het
Pdcd7	G	A	9: 65,265,974 (GRCm39)	W477*	probably null	Het
Pdpk1	G	A	17: 24,317,114 (GRCm39)	Q250*	probably null	Het
Pigb	T	A	9: 72,946,827 (GRCm39)	H16L	probably benign	Het
Pitpnm1	T	C	19: 4,153,435 (GRCm39)	F197S	probably damaging	Het
Plekhh2	T	C	17: 84,864,894 (GRCm39)	V94A	probably benign	Het
Pnpla7	C	A	2: 24,931,031 (GRCm39)	P882Q	probably damaging	Het
Pold2	A	G	11: 5,826,760 (GRCm39)	L58P	probably damaging	Het
Pomt1	C	G	2: 32,134,311 (GRCm39)	Y277*	probably null	Het
Prex2	A	G	1: 11,210,204 (GRCm39)	D548G	probably damaging	Het
Prkra	T	G	2: 76,469,622 (GRCm39)	T146P	probably damaging	Het
Prss51	T	A	14: 64,334,543 (GRCm39)	V108E	probably damaging	Het
Rai2	A	G	X: 160,561,636 (GRCm39)	N363S	probably benign	Het
Ranbp17	A	T	11: 33,169,241 (GRCm39)	V991D	possibly damaging	Het
Riox2	T	A	16: 59,306,979 (GRCm39)	M290K	probably benign	Het
Rnpepl1	T	A	1: 92,844,914 (GRCm39)	L402Q	probably damaging	Het
S1pr2	T	C	9: 20,878,890 (GRCm39)	T313A	probably benign	Het
Sesn2	A	G	4: 132,226,575 (GRCm39)	I173T	probably damaging	Het
Setx	T	G	2: 29,024,045 (GRCm39)		probably null	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Sgsm3	T	C	15: 80,892,200 (GRCm39)	V256A	probably benign	Het
Shroom4	T	A	X: 6,497,523 (GRCm39)	C894*	probably null	Het
Slc13a5	T	A	11: 72,149,903 (GRCm39)	E159D	probably benign	Het
Slc16a7	A	G	10: 125,130,473 (GRCm39)	Y71H	possibly damaging	Het
Slc28a2b	C	A	2: 122,353,259 (GRCm39)	L480I	probably benign	Het
Slc4a7	T	C	14: 14,773,345 (GRCm38)	F772L	possibly damaging	Het
Snapc4	A	G	2: 26,264,515 (GRCm39)	S275P	probably benign	Het
Sorl1	T	C	9: 41,968,580 (GRCm39)	T558A	possibly damaging	Het
Sspo	C	T	6: 48,439,187 (GRCm39)	P1612S	probably benign	Het
Stard9	A	G	2: 120,531,111 (GRCm39)	E2456G	probably damaging	Het
Stx1b	A	T	7: 127,414,575 (GRCm39)	D16E	probably benign	Het
Supv3l1	A	T	10: 62,266,375 (GRCm39)	N600K	possibly damaging	Het
Syne1	C	T	10: 4,991,494 (GRCm39)	V557I	probably benign	Het
Tanc2	T	A	11: 105,667,672 (GRCm39)	D84E	probably damaging	Het
Tep1	A	T	14: 51,105,774 (GRCm39)	L82Q	probably damaging	Het
Tfip11	T	C	5: 112,479,086 (GRCm39)		probably null	Het
Thtpa	G	T	14: 55,333,290 (GRCm39)	R125L	probably damaging	Het
Tm9sf1	C	T	14: 55,880,301 (GRCm39)	G32D	possibly damaging	Het
Tmcc3	A	T	10: 94,415,015 (GRCm39)	N239I	probably damaging	Het
Tpd52	A	T	3: 8,996,255 (GRCm39)		probably null	Het
Traf6	T	A	2: 101,515,100 (GRCm39)	C85*	probably null	Het
Trim68	T	G	7: 102,327,990 (GRCm39)	D321A	probably damaging	Het
Trmt6	C	A	2: 132,650,703 (GRCm39)	A302S	probably benign	Het
Ttbk1	T	C	17: 46,758,558 (GRCm39)	D692G	probably benign	Het
Ttc17	A	T	2: 94,133,985 (GRCm39)	W1067R	probably damaging	Het
Ttc6	T	A	12: 57,689,821 (GRCm39)		probably null	Het
Tut7	A	T	13: 59,937,660 (GRCm39)		probably null	Het
Txnrd2	T	G	16: 18,296,442 (GRCm39)	I468S	probably damaging	Het
Ube2b	A	T	11: 51,879,471 (GRCm39)	Y100N	probably damaging	Het
Ucn3	A	T	13: 3,991,474 (GRCm39)	F59L	probably benign	Het
Uggt1	A	G	1: 36,223,493 (GRCm39)	Y599H	probably damaging	Het
Ulk3	T	A	9: 57,498,023 (GRCm39)	I108N	possibly damaging	Het
Vav3	A	G	3: 109,434,791 (GRCm39)	M441V	possibly damaging	Het
Vmn2r1	T	A	3: 64,008,819 (GRCm39)	D499E	possibly damaging	Het
Vmn2r118	C	T	17: 55,918,565 (GRCm39)	G109D	probably benign	Het
Vmn2r5	T	A	3: 64,416,931 (GRCm39)	M76L	probably benign	Het
Vwa3a	A	G	7: 120,389,365 (GRCm39)	K68E	possibly damaging	Het
Zmiz1	A	T	14: 25,650,237 (GRCm39)	Y459F	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
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'- TCATGCTAGCAATACCGGTG -3'
(R):5'- AGAGGTAAGTTCTTAGGGTTCCAG -3'

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

Posted On

2016-08-04