Mutagenetix > Incidental Mutations

Incidental Mutation 'R7000:Cfi'

544449

Institutional Source

Beutler Lab

Gene Symbol

Cfi

Ensembl Gene

ENSMUSG00000058952

Gene Name

complement component factor i

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7000 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129835884-129875332 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 129872873 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 415 (T415K)

Ref Sequence

ENSEMBL: ENSMUSP00000077074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077918]

Predicted Effect

probably damaging
Transcript: ENSMUST00000077918
AA Change: T415K

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

SMART Domains

Protein: ENSMUSP00000077074
Gene: ENSMUSG00000058952
AA Change: T415K

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
FIMAC	45	111	4.63e-38	SMART
KAZAL	63	109	6.91e-3	SMART
SR	117	220	2.95e-22	SMART
LDLa	225	262	1.07e-4	SMART
LDLa	263	300	7.16e-6	SMART
low complexity region	317	326	N/A	INTRINSIC
Tryp_SPc	360	589	3.33e-71	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a serine protease that plays an important role in the classical and alternative complement pathways where it cleaves C4b and C3b components of C3 and C5 convertases. The encoded preproprotein undergoes proteolytic processing to generate an active, disulfide-linked heterodimeric enzyme comprised of heavy and light chains. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous null mice display uncontrolled alternative pathway activation as shown by reduced complement C3, factor B, and factor H levels, but do not develop C3 deposition along the glomerular basement membrane or membranoproliferative glomerulonephritistype II. Plasma C3 circulates as C3b. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,702,823	A525T	probably benign	Het
Abcc6	A	G	7: 46,005,522	I515T	possibly damaging	Het
Abi1	G	A	2: 22,942,041	A420V	probably damaging	Het
Abtb2	A	T	2: 103,712,442	I887F	possibly damaging	Het
Acap3	G	A	4: 155,903,849	G602S	possibly damaging	Het
Auts2	T	A	5: 131,440,218	T754S	probably benign	Het
AW551984	T	C	9: 39,600,789	R12G	probably benign	Het
AW822073	T	C	10: 58,222,992	T647A	possibly damaging	Het
Bcan	G	A	3: 87,988,379	R817*	probably null	Het
Bmp10	A	G	6: 87,434,193	T323A	probably benign	Het
Bpnt1	T	C	1: 185,349,856	L165P	probably damaging	Het
Casz1	G	A	4: 148,929,236	A86T	probably damaging	Het
Cd1d2	T	C	3: 86,987,773	F189L	probably benign	Het
Cep72	A	G	13: 74,058,325	M126T	probably damaging	Het
Cep85l	T	A	10: 53,298,199	T483S	probably damaging	Het
Chrna7	A	G	7: 63,106,039	L253S	probably damaging	Het
Col4a4	T	C	1: 82,497,330	H596R	unknown	Het
Cyp2j8	A	T	4: 96,447,351	M402K	probably benign	Het
Cyp3a16	T	A	5: 145,463,170		probably null	Het
Dhdh	T	C	7: 45,475,274	K332E	possibly damaging	Het
Dnah11	C	A	12: 118,017,661	C2590F	probably damaging	Het
Dnah17	T	C	11: 118,025,702		probably null	Het
Dtx1	A	G	5: 120,695,083	Y97H	probably damaging	Het
Elf1	A	G	14: 79,570,768	D183G	probably damaging	Het
Esyt3	A	C	9: 99,322,153	L94R	probably damaging	Het
Exoc3	A	G	13: 74,182,166	Y521H	probably benign	Het
F5	C	T	1: 164,179,506	T293M	probably damaging	Het
Fam118b	A	T	9: 35,235,264	H102Q	probably damaging	Het
Flad1	T	C	3: 89,402,242		probably benign	Het
Flrt3	G	A	2: 140,660,884	R275*	probably null	Het
Fndc7	G	A	3: 108,876,648	A215V	probably benign	Het
Fscn1	T	A	5: 142,960,627	V60E	probably damaging	Het
Gm17175	A	T	14: 51,573,961	M1K	probably null	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Gprc6a	T	C	10: 51,615,047	S694G	probably benign	Het
Iglon5	A	T	7: 43,476,830		probably null	Het
Iqch	T	C	9: 63,454,610	T874A	probably benign	Het
Lamc2	T	A	1: 153,166,127	H87L	possibly damaging	Het
Ldlrad1	T	A	4: 107,209,580	D37E	probably benign	Het
Lman1l	G	C	9: 57,615,948	Q109E	probably benign	Het
Loxhd1	T	C	18: 77,372,433		probably null	Het
Lxn	T	G	3: 67,462,371	E60D	probably benign	Het
Man2b2	A	G	5: 36,821,869	W276R	probably damaging	Het
Mast1	T	C	8: 84,928,969	Y182C	probably damaging	Het
Mroh8	C	T	2: 157,216,977	R923Q	probably benign	Het
Nov	A	T	15: 54,752,347	T303S	probably damaging	Het
Obscn	A	G	11: 59,136,038	L113P	probably damaging	Het
Ocln	C	T	13: 100,534,962		probably null	Het
Olfr1467	A	G	19: 13,364,623		probably benign	Het
Olfr671	G	A	7: 104,975,131	P285S	probably damaging	Het
Oog2	A	T	4: 144,195,327	Q269L	probably damaging	Het
Osbpl3	A	G	6: 50,297,157	S826P	probably damaging	Het
Otogl	T	C	10: 107,779,831	N1869S	probably benign	Het
Pamr1	G	A	2: 102,611,623	D186N	probably damaging	Het
Pcdhga8	T	A	18: 37,726,893	I334K	probably benign	Het
Pde7b	A	G	10: 20,443,292	S95P	probably damaging	Het
Pik3cg	A	T	12: 32,192,129	V994E	probably damaging	Het
Pkp1	T	C	1: 135,889,954	M148V	probably benign	Het
Plbd1	T	G	6: 136,612,838	K461Q	probably benign	Het
Pmfbp1	A	G	8: 109,530,589	E594G	possibly damaging	Het
Pold3	A	T	7: 100,106,658	H60Q	probably damaging	Het
Polr3gl	C	T	3: 96,580,467	R52Q	possibly damaging	Het
Ptgds	A	G	2: 25,467,816		probably null	Het
Scarb2	T	C	5: 92,454,075	D320G	probably benign	Het
Sdk2	T	C	11: 113,803,169	Y1812C	probably damaging	Het
Skint8	C	A	4: 111,937,025	T204N	probably benign	Het
Slc23a2	T	C	2: 132,094,203	Q49R	possibly damaging	Het
Slc26a7	T	C	4: 14,552,476	Q227R	probably benign	Het
Sntn	C	T	14: 13,679,108	T94I	probably damaging	Het
Spem2	C	T	11: 69,817,756	G128S	probably benign	Het
Supt16	A	T	14: 52,171,450	S822R	probably damaging	Het
Syn3	T	C	10: 86,080,252	Y290C	probably damaging	Het
Tdrd6	C	G	17: 43,627,708	E816D	probably benign	Het
Tln1	A	T	4: 43,556,302	M72K	probably damaging	Het
Tlnrd1	A	G	7: 83,882,779	V148A	probably damaging	Het
Trim24	C	A	6: 37,958,678	T832K	probably benign	Het
Ubr4	C	T	4: 139,414,404	A1267V	probably damaging	Het
Usp17lb	A	T	7: 104,841,285	M145K	probably damaging	Het
Vmn1r178	T	A	7: 23,894,337	M270K	probably benign	Het
Vmn2r70	A	T	7: 85,559,611	C553S	probably damaging	Het
Vps37c	G	T	19: 10,710,329	E51D	probably damaging	Het
Zfp62	T	G	11: 49,216,379	Y432*	probably null	Het

Other mutations in Cfi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Cfi	APN	3	129873095	missense	probably damaging	0.97
IGL00659:Cfi	APN	3	129836813	missense	unknown
IGL01310:Cfi	APN	3	129858431	missense	probably damaging	1.00
IGL01387:Cfi	APN	3	129874913	unclassified	probably benign
IGL01897:Cfi	APN	3	129858385	missense	probably damaging	1.00
IGL02418:Cfi	APN	3	129848812	missense	probably benign	0.20
F5770:Cfi	UTSW	3	129854992	missense	possibly damaging	0.62
R0085:Cfi	UTSW	3	129874986	missense	probably benign	0.00
R0102:Cfi	UTSW	3	129848767	missense	probably damaging	0.97
R0102:Cfi	UTSW	3	129848767	missense	probably damaging	0.97
R0835:Cfi	UTSW	3	129868542	missense	probably damaging	1.00
R1191:Cfi	UTSW	3	129868527	missense	probably benign	0.01
R1221:Cfi	UTSW	3	129872969	missense	probably damaging	0.99
R1576:Cfi	UTSW	3	129873050	missense	probably damaging	0.98
R1809:Cfi	UTSW	3	129873119	critical splice donor site	probably null
R1940:Cfi	UTSW	3	129858828	splice site	probably benign
R1983:Cfi	UTSW	3	129868545	missense	probably damaging	1.00
R2069:Cfi	UTSW	3	129858804	splice site	probably null
R3012:Cfi	UTSW	3	129874930	missense	probably damaging	1.00
R4334:Cfi	UTSW	3	129850829	missense	possibly damaging	0.80
R4596:Cfi	UTSW	3	129868500	missense	probably damaging	0.98
R4888:Cfi	UTSW	3	129873077	missense	probably damaging	1.00
R5121:Cfi	UTSW	3	129873077	missense	probably damaging	1.00
R5322:Cfi	UTSW	3	129873040	missense	probably damaging	1.00
R5673:Cfi	UTSW	3	129855009	missense	probably benign	0.02
R6084:Cfi	UTSW	3	129858370	missense	probably benign	0.00
R6364:Cfi	UTSW	3	129872846	missense	probably benign	0.36
R6770:Cfi	UTSW	3	129858730	missense	probably benign	0.21
R7108:Cfi	UTSW	3	129875016	missense	probably damaging	1.00
R7194:Cfi	UTSW	3	129855059	missense	probably damaging	1.00
R7342:Cfi	UTSW	3	129875132	missense	probably damaging	1.00
R7470:Cfi	UTSW	3	129855087	missense	probably benign	0.01
R7538:Cfi	UTSW	3	129858815	missense	probably benign	0.08
R7908:Cfi	UTSW	3	129848584	missense	probably benign	0.01
R7954:Cfi	UTSW	3	129868585	critical splice donor site	probably null
R8017:Cfi	UTSW	3	129855099	missense	probably benign	0.00
R8135:Cfi	UTSW	3	129855000	missense	probably benign	0.00
R8155:Cfi	UTSW	3	129855090	missense	probably benign	0.00
R8217:Cfi	UTSW	3	129855001	missense	possibly damaging	0.61
R8530:Cfi	UTSW	3	129850733	missense	possibly damaging	0.79
R8767:Cfi	UTSW	3	129850848	critical splice donor site	probably null
V7580:Cfi	UTSW	3	129854992	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- AGTCTACATCAATGGAACTCTCC -3'
(R):5'- GACGGAATTGGGGAGTTCAC -3'

Sequencing Primer
(F):5'- GCAGAGCTGAGAGTTCTACATCTTC -3'
(R):5'- AATTGGGGAGTTCACATTCTTTC -3'

Posted On

2019-05-13