Mutagenetix > Incidental Mutation

Incidental Mutation 'F5770:Cfi'

177971

Institutional Source

Beutler Lab

Gene Symbol

Cfi

Ensembl Gene

ENSMUSG00000058952

Gene Name

complement component factor i

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

F5770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129630432-129668978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 129648641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 175 (I175K)

Ref Sequence

ENSEMBL: ENSMUSP00000077074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077918] [ENSMUST00000200206]

AlphaFold

Q61129

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077918
AA Change: I175K

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000077074
Gene: ENSMUSG00000058952
AA Change: I175K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000200206

SMART Domains

Protein: ENSMUSP00000142975
Gene: ENSMUSG00000058952

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
FIMAC	45	111	2.2e-40	SMART
KAZAL	63	109	4.4e-5	SMART
Blast:SR	117	145	3e-11	BLAST

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (96/97)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,595,050 (GRCm39)	H102L	possibly damaging	Het
Abcb5	T	A	12: 118,849,914 (GRCm39)	M950L	probably benign	Het
Ahcy	G	A	2: 154,906,841 (GRCm39)	R151*	probably null	Het
Arhgef38	T	G	3: 132,855,301 (GRCm39)	H262P	probably damaging	Het
Atp6v1h	A	G	1: 5,194,666 (GRCm39)	T282A	possibly damaging	Het
Camk2g	T	C	14: 20,789,380 (GRCm39)		probably benign	Het
Casp8ap2	C	T	4: 32,639,944 (GRCm39)	H333Y	probably benign	Het
Cd36	ACTGTCTGT	ACTGT	5: 18,025,526 (GRCm39)		probably null	Het
Cdc42bpb	C	T	12: 111,262,825 (GRCm39)	G1501S	probably benign	Het
Clasp1	G	A	1: 118,509,078 (GRCm39)	R1027Q	probably damaging	Het
D630003M21Rik	T	C	2: 158,042,931 (GRCm39)	T870A	probably benign	Het
Dcaf4	C	A	12: 83,584,475 (GRCm39)		probably null	Het
Dnah12	T	A	14: 26,495,050 (GRCm39)	N1369K	possibly damaging	Het
Dnajc22	T	A	15: 98,999,363 (GRCm39)	Y183N	probably damaging	Het
Dpyd	C	T	3: 118,690,775 (GRCm39)	Q295*	probably null	Het
Dync2i1	A	C	12: 116,175,460 (GRCm39)	S906A	possibly damaging	Het
Erv3	T	C	2: 131,697,846 (GRCm39)	H171R	possibly damaging	Het
Fam221b	T	C	4: 43,665,865 (GRCm39)	T249A	probably benign	Het
Fbrsl1	C	T	5: 110,527,292 (GRCm39)	A129T	possibly damaging	Het
Fcgr1	T	C	3: 96,191,592 (GRCm39)	*405W	probably null	Het
Gdap1l1	C	T	2: 163,289,406 (GRCm39)		probably benign	Het
Glrx3	A	G	7: 137,060,882 (GRCm39)	H172R	probably benign	Het
Gm10770	T	A	2: 150,021,404 (GRCm39)	K38*	probably null	Het
Gm20517	G	A	17: 47,929,757 (GRCm39)	V65M	probably damaging	Het
Gm4787	G	A	12: 81,424,341 (GRCm39)	Q606*	probably null	Het
Golga4	A	G	9: 118,385,143 (GRCm39)	E727G	possibly damaging	Het
Got1	T	A	19: 43,489,000 (GRCm39)		probably benign	Het
Heatr5a	A	G	12: 51,928,061 (GRCm39)		probably benign	Het
Hira	G	A	16: 18,713,571 (GRCm39)	A29T	probably damaging	Het
Hnrnpab	A	T	11: 51,493,451 (GRCm39)	N252K	probably benign	Het
Ing1	T	C	8: 11,611,934 (GRCm39)	V124A	probably damaging	Het
Izumo4	A	T	10: 80,539,725 (GRCm39)	T155S	probably benign	Het
Kcnb2	A	G	1: 15,780,315 (GRCm39)	I396V	probably benign	Het
Klc1	A	T	12: 111,741,006 (GRCm39)	I161F	probably benign	Het
Lpar5	C	A	6: 125,058,690 (GRCm39)	A137E	possibly damaging	Het
Lrp4	C	T	2: 91,318,863 (GRCm39)	S900L	possibly damaging	Het
Lrrc37a	T	G	11: 103,346,338 (GRCm39)	N3176T	possibly damaging	Het
Mbd5	A	G	2: 49,206,422 (GRCm39)	D1713G	probably damaging	Het
Mctp2	T	A	7: 71,771,499 (GRCm39)		probably benign	Het
Muc6	T	G	7: 141,233,880 (GRCm39)	E808A	probably benign	Het
Mylk	G	T	16: 34,815,574 (GRCm39)		probably null	Het
Myrfl	T	C	10: 116,697,435 (GRCm39)	T30A	probably damaging	Het
Nbeal2	A	G	9: 110,467,005 (GRCm39)	V670A	possibly damaging	Het
Nphp3	T	C	9: 103,913,093 (GRCm39)		probably null	Het
Numbl	T	C	7: 26,979,027 (GRCm39)	S379P	probably benign	Het
Or10j7	G	T	1: 173,011,531 (GRCm39)	L157I	probably benign	Het
Or5an6	G	A	19: 12,371,914 (GRCm39)	V96I	probably benign	Het
Or5p57	G	T	7: 107,665,885 (GRCm39)	T40K	probably benign	Het
Otop3	T	A	11: 115,235,664 (GRCm39)	L432Q	probably damaging	Het
Papln	C	T	12: 83,825,608 (GRCm39)	R608C	possibly damaging	Het
Pelp1	T	A	11: 70,288,976 (GRCm39)	T257S	probably damaging	Het
Pigx	T	C	16: 31,906,240 (GRCm39)	D129G	probably damaging	Het
Pik3cd	A	C	4: 149,741,776 (GRCm39)	L390R	probably damaging	Het
Plekhb1	T	C	7: 100,303,825 (GRCm39)	T112A	probably benign	Het
Ppwd1	A	G	13: 104,356,745 (GRCm39)	Y257H	probably damaging	Het
Prkcb	G	T	7: 122,127,699 (GRCm39)	W274C	probably damaging	Het
Rabep1	T	C	11: 70,828,342 (GRCm39)		probably benign	Het
Ralgapa1	G	A	12: 55,842,438 (GRCm39)		probably benign	Het
Rasa1	A	G	13: 85,375,064 (GRCm39)		probably null	Het
Rbbp8nl	T	A	2: 179,920,001 (GRCm39)	T558S	probably benign	Het
Recql4	T	C	15: 76,590,369 (GRCm39)	D705G	possibly damaging	Het
Ror1	A	G	4: 100,298,130 (GRCm39)	Q501R	probably damaging	Het
Rundc3b	TGCCGCCGCCGCCGCCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCGCCGC	5: 8,672,549 (GRCm39)		probably benign	Het
Sirpb1b	A	G	3: 15,568,243 (GRCm39)	V366A	probably benign	Het
Slc30a4	T	A	2: 122,531,458 (GRCm39)	M136L	probably benign	Het
Slc5a6	C	T	5: 31,199,957 (GRCm39)		probably null	Het
Spaca1	T	C	4: 34,039,311 (GRCm39)	E192G	probably damaging	Het
Spata31	C	A	13: 65,069,462 (GRCm39)	P537T	probably benign	Het
Sptbn2	C	T	19: 4,800,660 (GRCm39)	R2292C	probably damaging	Het
Thbd	A	T	2: 148,249,110 (GRCm39)	Y253N	probably benign	Het
Tiam1	C	T	16: 89,662,159 (GRCm39)	R653H	probably damaging	Het
Tmc3	T	C	7: 83,271,713 (GRCm39)	V955A	probably benign	Het
Tnrc6c	G	A	11: 117,614,152 (GRCm39)	R770H	probably damaging	Het
Toe1	A	T	4: 116,663,308 (GRCm39)	N56K	probably damaging	Het
Tprkb	A	G	6: 85,905,764 (GRCm39)	K150E	probably damaging	Het
Trps1	T	C	15: 50,694,973 (GRCm39)	K150E	probably damaging	Het
Tspyl3	A	G	2: 153,066,980 (GRCm39)	V86A	probably benign	Het
Ttc23	T	C	7: 67,359,063 (GRCm39)		probably benign	Het
Ttc36	A	T	9: 44,713,094 (GRCm39)		probably benign	Het
Tubb3	C	T	8: 124,138,414 (GRCm39)		probably benign	Het
Vmn2r68	C	T	7: 84,871,088 (GRCm39)	V732I	probably benign	Het
Vps18	A	G	2: 119,127,709 (GRCm39)	Y844C	probably benign	Het
Wdr72	T	A	9: 74,064,552 (GRCm39)	I528N	probably damaging	Het
Zfp292	C	T	4: 34,806,783 (GRCm39)	C2087Y	possibly damaging	Het
Zfp606	T	G	7: 12,215,123 (GRCm39)		probably benign	Het
Zfp933	G	A	4: 147,910,927 (GRCm39)	A223V	probably damaging	Het
Zmynd8	G	A	2: 165,654,314 (GRCm39)	R724*	probably null	Het

Other mutations in Cfi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Cfi	APN	3	129,666,744 (GRCm39)	missense	probably damaging	0.97
IGL00659:Cfi	APN	3	129,630,462 (GRCm39)	missense	unknown
IGL01310:Cfi	APN	3	129,652,080 (GRCm39)	missense	probably damaging	1.00
IGL01387:Cfi	APN	3	129,668,562 (GRCm39)	unclassified	probably benign
IGL01897:Cfi	APN	3	129,652,034 (GRCm39)	missense	probably damaging	1.00
IGL02418:Cfi	APN	3	129,642,461 (GRCm39)	missense	probably benign	0.20
R0085:Cfi	UTSW	3	129,668,635 (GRCm39)	missense	probably benign	0.00
R0102:Cfi	UTSW	3	129,642,416 (GRCm39)	missense	probably damaging	0.97
R0102:Cfi	UTSW	3	129,642,416 (GRCm39)	missense	probably damaging	0.97
R0835:Cfi	UTSW	3	129,662,191 (GRCm39)	missense	probably damaging	1.00
R1191:Cfi	UTSW	3	129,662,176 (GRCm39)	missense	probably benign	0.01
R1221:Cfi	UTSW	3	129,666,618 (GRCm39)	missense	probably damaging	0.99
R1576:Cfi	UTSW	3	129,666,699 (GRCm39)	missense	probably damaging	0.98
R1809:Cfi	UTSW	3	129,666,768 (GRCm39)	critical splice donor site	probably null
R1940:Cfi	UTSW	3	129,652,477 (GRCm39)	splice site	probably benign
R1983:Cfi	UTSW	3	129,662,194 (GRCm39)	missense	probably damaging	1.00
R2069:Cfi	UTSW	3	129,652,453 (GRCm39)	splice site	probably null
R3012:Cfi	UTSW	3	129,668,579 (GRCm39)	missense	probably damaging	1.00
R4334:Cfi	UTSW	3	129,644,478 (GRCm39)	missense	possibly damaging	0.80
R4596:Cfi	UTSW	3	129,662,149 (GRCm39)	missense	probably damaging	0.98
R4888:Cfi	UTSW	3	129,666,726 (GRCm39)	missense	probably damaging	1.00
R5121:Cfi	UTSW	3	129,666,726 (GRCm39)	missense	probably damaging	1.00
R5322:Cfi	UTSW	3	129,666,689 (GRCm39)	missense	probably damaging	1.00
R5673:Cfi	UTSW	3	129,648,658 (GRCm39)	missense	probably benign	0.02
R6084:Cfi	UTSW	3	129,652,019 (GRCm39)	missense	probably benign	0.00
R6364:Cfi	UTSW	3	129,666,495 (GRCm39)	missense	probably benign	0.36
R6770:Cfi	UTSW	3	129,652,379 (GRCm39)	missense	probably benign	0.21
R7000:Cfi	UTSW	3	129,666,522 (GRCm39)	missense	probably damaging	1.00
R7108:Cfi	UTSW	3	129,668,665 (GRCm39)	missense	probably damaging	1.00
R7194:Cfi	UTSW	3	129,648,708 (GRCm39)	missense	probably damaging	1.00
R7342:Cfi	UTSW	3	129,668,781 (GRCm39)	missense	probably damaging	1.00
R7470:Cfi	UTSW	3	129,648,736 (GRCm39)	missense	probably benign	0.01
R7538:Cfi	UTSW	3	129,652,464 (GRCm39)	missense	probably benign	0.08
R7908:Cfi	UTSW	3	129,642,233 (GRCm39)	missense	probably benign	0.01
R7954:Cfi	UTSW	3	129,662,234 (GRCm39)	critical splice donor site	probably null
R8017:Cfi	UTSW	3	129,648,748 (GRCm39)	missense	probably benign	0.00
R8135:Cfi	UTSW	3	129,648,649 (GRCm39)	missense	probably benign	0.00
R8155:Cfi	UTSW	3	129,648,739 (GRCm39)	missense	probably benign	0.00
R8217:Cfi	UTSW	3	129,648,650 (GRCm39)	missense	possibly damaging	0.61
R8530:Cfi	UTSW	3	129,644,382 (GRCm39)	missense	possibly damaging	0.79
R8767:Cfi	UTSW	3	129,644,497 (GRCm39)	critical splice donor site	probably null
R9578:Cfi	UTSW	3	129,659,024 (GRCm39)	missense	probably benign
R9590:Cfi	UTSW	3	129,642,461 (GRCm39)	missense	probably benign	0.02
R9774:Cfi	UTSW	3	129,668,645 (GRCm39)	missense	probably damaging	0.99
V7580:Cfi	UTSW	3	129,648,641 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

Posted On

2014-05-07