Mutagenetix > Incidental Mutations

Incidental Mutation 'R4751:Ncf1'

357578

Institutional Source

Beutler Lab

Gene Symbol

Ncf1

Ensembl Gene

ENSMUSG00000015950

Gene Name

neutrophil cytosolic factor 1

Synonyms

p47, Ncf-1, NOXO2, NADPH oxidase subunit (47kDa), p47phox

MMRRC Submission

041970-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134220053-134229625 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 134229545 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 8 (H8L)

Ref Sequence

ENSEMBL: ENSMUSP00000138121 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000016094
AA Change: H8L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000016094
Gene: ENSMUSG00000015950
AA Change: H8L

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: H8L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106906
Gene: ENSMUSG00000015950
AA Change: H8L

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: ENSMUST00000126934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139249

Predicted Effect

probably damaging
Transcript: ENSMUST00000144086
AA Change: H8L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138547
Gene: ENSMUSG00000015950
AA Change: H8L

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 damaging
Transcript: ENSMUST00000146354
AA Change: H8L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138121
Gene: ENSMUSG00000015950
AA Change: H8L

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

Meta Mutation Damage Score

0.4049

Coding Region Coverage

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

Validation Efficiency

95% (124/131)

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	T	7: 128,237,086	C112S	probably benign	Het
Abca13	G	A	11: 9,277,973		probably null	Het
Abca14	A	G	7: 120,312,177	E1328G	probably benign	Het
Abca9	T	A	11: 110,130,570	I1105F	probably benign	Het
Abr	T	C	11: 76,456,608	N396D	possibly damaging	Het
Aftph	A	C	11: 20,727,074	C178W	probably damaging	Het
Akr1c14	T	C	13: 4,065,338	F89S	possibly damaging	Het
Ank3	C	T	10: 69,986,206	A1518V	probably benign	Het
Arfgap2	T	G	2: 91,267,368	S143R	probably benign	Het
Aspdh	T	A	7: 44,467,205	C107*	probably null	Het
Asphd2	C	A	5: 112,391,746	G74W	probably damaging	Het
AU040320	G	A	4: 126,854,466		probably null	Het
B3glct	T	A	5: 149,725,402		probably null	Het
Bcl9l	A	G	9: 44,506,803	K646R	probably damaging	Het
Brat1	T	G	5: 140,718,296	L768R	probably damaging	Het
Btbd18	T	A	2: 84,667,921	Y634*	probably null	Het
Bub1	T	A	2: 127,823,938		probably benign	Het
Carns1	A	T	19: 4,166,418	D588E	probably damaging	Het
Cast	T	C	13: 74,746,047	K141E	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Chsy3	T	C	18: 59,175,800	S42P	possibly damaging	Het
Clca1	A	T	3: 145,004,848	F865I	possibly damaging	Het
Clec4f	T	A	6: 83,645,282	M526L	possibly damaging	Het
Clnk	T	C	5: 38,720,913	E301G	probably benign	Het
Colgalt2	T	A	1: 152,489,876	I309N	probably benign	Het
Cyp2e1	A	T	7: 140,774,716	K326*	probably null	Het
Dagla	T	A	19: 10,250,394	T717S	probably benign	Het
Dnajc11	G	A	4: 151,968,542	R141H	probably benign	Het
Dst	A	G	1: 34,191,884	K2853E	probably benign	Het
Eif4g1	A	G	16: 20,686,515	K1208E	possibly damaging	Het
Elane	A	G	10: 79,886,791	R48G	probably benign	Het
Fbxo30	T	A	10: 11,290,195	N220K	probably benign	Het
Fbxo33	A	T	12: 59,200,928		probably benign	Het
Fetub	G	A	16: 22,937,895	V169I	probably benign	Het
Gm13762	A	G	2: 88,973,133	C253R	probably damaging	Het
Gm5861	T	A	5: 11,186,491	Y138N	probably damaging	Het
Gpx6	A	C	13: 21,317,064	Q107H	probably damaging	Het
Hist2h2bb	A	T	3: 96,269,151		probably benign	Het
Homer3	A	T	8: 70,285,434	I19F	probably damaging	Het
Hspa4	C	T	11: 53,284,199	V144I	probably benign	Het
Icos	C	T	1: 60,993,717	S25L	probably benign	Het
Ifna4	A	G	4: 88,841,948	T30A	probably benign	Het
Ino80b	C	T	6: 83,124,750	G46D	probably damaging	Het
Kpna2	T	G	11: 106,992,664	I100L	possibly damaging	Het
Krt71	C	T	15: 101,735,466	G446R	probably damaging	Het
Krtap31-2	A	G	11: 99,936,576	N78S	possibly damaging	Het
Lman1	A	G	18: 65,998,434	S132P	probably benign	Het
Lmna	T	C	3: 88,486,533	Q246R	possibly damaging	Het
Lrp10	T	A	14: 54,468,592	V413E	probably damaging	Het
Macf1	A	C	4: 123,471,650	I1541S	probably benign	Het
Med24	A	G	11: 98,706,432	L874P	probably damaging	Het
Mgll	T	A	6: 88,725,111		probably benign	Het
Mrpl37	A	T	4: 107,057,475	L364Q	probably damaging	Het
Mrpl47	C	T	3: 32,728,441	R209H	probably benign	Het
Muc5ac	T	C	7: 141,817,601	F3285L	probably benign	Het
Mylk	A	G	16: 34,879,169	R301G	probably benign	Het
Nacad	A	G	11: 6,605,726	L8P	unknown	Het
Ncoa3	T	A	2: 166,069,903	M1383K	possibly damaging	Het
Necab2	C	T	8: 119,467,598	S271L	probably benign	Het
Nme8	A	T	13: 19,675,638		probably null	Het
Nsrp1	T	G	11: 77,076,719	T16P	possibly damaging	Het
Obox3	A	T	7: 15,625,692		probably null	Het
Olfr1211	T	A	2: 88,929,914	I134F	probably damaging	Het
Olfr1416	C	A	1: 92,479,983	A213S	probably benign	Het
Olfr1428	T	A	19: 12,109,177	Y123F	probably damaging	Het
Olfr355	T	C	2: 36,927,583	H177R	probably damaging	Het
Olfr667	A	T	7: 104,916,410	Y295*	probably null	Het
Osbpl3	C	G	6: 50,300,997	E790Q	possibly damaging	Het
Osmr	A	T	15: 6,842,852	W254R	probably damaging	Het
Otoa	T	C	7: 121,132,924		probably benign	Het
Pagr1a	A	T	7: 127,015,379	L218H	probably damaging	Het
Pcdha11	G	A	18: 37,006,944	G542D	probably damaging	Het
Pck2	T	A	14: 55,542,561	I54N	probably damaging	Het
Ppif	T	C	14: 25,699,499	V173A	probably damaging	Het
Ptgs2	T	A	1: 150,104,020	L292H	probably damaging	Het
Ptpru	A	G	4: 131,802,586	S604P	probably damaging	Het
Qrfpr	T	C	3: 36,182,622	H210R	possibly damaging	Het
Rasgrf1	A	G	9: 89,910,118	T41A	probably damaging	Het
Rasgrf1	A	G	9: 90,012,866	H1113R	probably damaging	Het
Rhoc	T	A	3: 104,792,647	I80N	probably damaging	Het
Riok3	A	G	18: 12,153,983	N472S	probably benign	Het
Rnf213	A	G	11: 119,445,745	Y3314C	probably benign	Het
Shank2	C	T	7: 144,409,468	T264I	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Sipa1l1	A	G	12: 82,341,194	I65V	probably benign	Het
Slc22a19	T	C	19: 7,691,145	K291R	possibly damaging	Het
Slc22a20	T	C	19: 5,980,460	I315V	probably benign	Het
Slc44a1	A	T	4: 53,560,973	D563V	probably damaging	Het
Smchd1	A	T	17: 71,391,468	H1104Q	probably benign	Het
Spcs2	A	T	7: 99,844,769		probably null	Het
Sptb	T	C	12: 76,627,110	E301G	probably benign	Het
Stum	T	C	1: 180,442,669	D86G	probably damaging	Het
Sufu	A	T	19: 46,483,649	D449V	probably benign	Het
Sun5	T	C	2: 153,866,016		probably null	Het
Tbc1d15	T	A	10: 115,202,587	I574F	probably damaging	Het
Tert	G	A	13: 73,628,063	S311N	possibly damaging	Het
Tiparp	T	C	3: 65,552,804	Y507H	probably damaging	Het
Tnk2	T	C	16: 32,679,857	C158R	probably damaging	Het
Tpgs1	T	C	10: 79,675,620	S199P	possibly damaging	Het
Trdmt1	G	T	2: 13,544,653		probably benign	Het
Trp53bp1	T	A	2: 121,227,809	D944V	probably damaging	Het
Tsc1	T	A	2: 28,679,081	I720N	probably damaging	Het
Ttn	T	C	2: 76,709,605	T34346A	probably benign	Het
Ttn	T	C	2: 76,897,581		probably benign	Het
Uba7	T	A	9: 107,979,805	C686S	possibly damaging	Het
Ush2a	T	A	1: 188,850,087	F3782L	probably damaging	Het
Vars2	A	T	17: 35,659,343	H745Q	possibly damaging	Het
Vgf	T	A	5: 137,032,401	D472E	probably damaging	Het
Vmn2r15	T	C	5: 109,286,754	M695V	probably benign	Het
Vps41	A	T	13: 18,811,622	D208V	probably damaging	Het
Vta1	C	T	10: 14,655,816	A272T	probably benign	Het
Wnk4	G	A	11: 101,276,362		probably benign	Het
Zfp507	T	C	7: 35,794,382	K412R	probably damaging	Het
Zfp768	A	G	7: 127,344,762	F65L	possibly damaging	Het
Zfp956	T	C	6: 47,963,576	S290P	probably benign	Het

Other mutations in Ncf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01532:Ncf1	APN	5	134226593	missense	probably benign	0.03
IGL02718:Ncf1	APN	5	134227448	critical splice donor site	probably null
R0143:Ncf1	UTSW	5	134227137	splice site	probably benign
R0313:Ncf1	UTSW	5	134229567	start codon destroyed	probably null	1.00
R0413:Ncf1	UTSW	5	134222802	splice site	probably benign
R2037:Ncf1	UTSW	5	134229552	missense	probably damaging	1.00
R2042:Ncf1	UTSW	5	134226640	missense	probably benign	0.00
R2511:Ncf1	UTSW	5	134225698	missense	probably damaging	0.99
R3545:Ncf1	UTSW	5	134226609	nonsense	probably null
R3547:Ncf1	UTSW	5	134226609	nonsense	probably null
R3548:Ncf1	UTSW	5	134226609	nonsense	probably null
R4989:Ncf1	UTSW	5	134223413	missense	probably damaging	0.98
R5288:Ncf1	UTSW	5	134221805	missense	probably damaging	1.00
R5384:Ncf1	UTSW	5	134221805	missense	probably damaging	1.00
R5385:Ncf1	UTSW	5	134221805	missense	probably damaging	1.00
R5590:Ncf1	UTSW	5	134223501	missense	probably damaging	0.98
R6059:Ncf1	UTSW	5	134223487	missense	probably damaging	1.00
R6136:Ncf1	UTSW	5	134226633	missense	probably damaging	1.00
R7023:Ncf1	UTSW	5	134225262	missense	possibly damaging	0.48
R7310:Ncf1	UTSW	5	134221761	missense	probably benign	0.04
R7618:Ncf1	UTSW	5	134227267	missense	probably benign	0.08
R7838:Ncf1	UTSW	5	134222095	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- ATAGCCTCCCCTGGACCC -3'
(R):5'- CCCACCACTCTGTTGAAGCT -3'

Sequencing Primer
(F):5'- ATATCCTCCCCTGGACCCC -3'
(R):5'- CCACTCTGTTGAAGCTCAAAAATTC -3'

Posted On

2015-11-11