Mutagenetix > Incidental Mutation

Incidental Mutation 'R0835:Cfi'

77797

Institutional Source

Beutler Lab

Gene Symbol

Cfi

Ensembl Gene

ENSMUSG00000058952

Gene Name

complement component factor i

Synonyms

MMRRC Submission

039014-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0835 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129630432-129668978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129662191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 390 (Y390F)

Ref Sequence

ENSEMBL: ENSMUSP00000077074 (fasta)

Gene Model

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

AlphaFold

Q61129

Predicted Effect

probably damaging
Transcript: ENSMUST00000077918
AA Change: Y390F

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

SMART Domains

Protein: ENSMUSP00000077074
Gene: ENSMUSG00000058952
AA Change: Y390F

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: 99.2%
3x: 98.4%
10x: 96.2%
20x: 90.7%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	G	T	6: 146,855,036 (GRCm39)		probably benign	Het
Abca16	A	G	7: 120,065,007 (GRCm39)	T555A	probably benign	Het
Abca4	A	T	3: 121,919,862 (GRCm39)	D1048V	probably damaging	Het
Abcf2	G	T	5: 24,779,251 (GRCm39)	T99N	probably damaging	Het
Acan	A	T	7: 78,763,980 (GRCm39)	S2119C	probably damaging	Het
Adgre4	G	A	17: 56,106,637 (GRCm39)	C292Y	probably damaging	Het
Alk	A	G	17: 72,176,837 (GRCm39)	F1489S	probably damaging	Het
Ampd2	A	G	3: 107,983,818 (GRCm39)	V573A	possibly damaging	Het
Aoc1	T	C	6: 48,882,448 (GRCm39)	F130S	probably damaging	Het
Bbs2	A	T	8: 94,801,887 (GRCm39)	I554N	probably damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cbfa2t3	T	C	8: 123,374,517 (GRCm39)	H76R	probably benign	Het
Cdc14a	G	T	3: 116,122,171 (GRCm39)	N216K	probably benign	Het
Cep126	T	C	9: 8,130,224 (GRCm39)	Y69C	probably damaging	Het
Cep135	A	T	5: 76,763,553 (GRCm39)	R514S	probably benign	Het
Chd8	T	C	14: 52,441,482 (GRCm39)	D870G	probably benign	Het
Clptm1	A	G	7: 19,369,599 (GRCm39)	V437A	possibly damaging	Het
Coro2b	T	C	9: 62,333,119 (GRCm39)	N422S	possibly damaging	Het
Coro7	T	C	16: 4,450,118 (GRCm39)	E577G	probably benign	Het
Crh	G	A	3: 19,748,528 (GRCm39)	P38L	probably benign	Het
Ctif	T	A	18: 75,568,407 (GRCm39)	D577V	probably damaging	Het
Deup1	T	A	9: 15,511,047 (GRCm39)	Q244L	probably damaging	Het
Dhx16	A	G	17: 36,192,581 (GRCm39)	E171G	probably damaging	Het
Dnah11	A	C	12: 117,880,523 (GRCm39)	Y3866D	probably damaging	Het
Dync1i2	C	T	2: 71,081,316 (GRCm39)	L508F	probably damaging	Het
Dync2h1	T	A	9: 7,116,642 (GRCm39)		probably null	Het
E2f4	C	T	8: 106,027,140 (GRCm39)	Q235*	probably null	Het
Eif2b3	A	G	4: 116,916,002 (GRCm39)	H203R	probably damaging	Het
Epha5	A	T	5: 84,534,101 (GRCm39)	W77R	probably damaging	Het
Gpx6	C	T	13: 21,501,238 (GRCm39)	P109S	probably damaging	Het
Gsdmc4	A	T	15: 63,765,649 (GRCm39)	V300E	probably damaging	Het
Gspt1	A	C	16: 11,056,802 (GRCm39)	S198A	probably benign	Het
Ift70a2	T	C	2: 75,808,494 (GRCm39)	N6S	probably benign	Het
Itpk1	C	T	12: 102,641,707 (GRCm39)	V39M	probably damaging	Het
Kremen2	G	T	17: 23,961,811 (GRCm39)	P232Q	probably damaging	Het
Lamtor4	C	A	5: 138,257,320 (GRCm39)	T74K	probably benign	Het
Mbtd1	T	A	11: 93,822,665 (GRCm39)	F492I	probably benign	Het
Mroh1	G	T	15: 76,336,083 (GRCm39)	V1486F	probably damaging	Het
Myg1	G	A	15: 102,240,537 (GRCm39)	V76M	probably damaging	Het
Myo16	G	T	8: 10,322,766 (GRCm39)	Q65H	probably damaging	Het
Ncapg	A	G	5: 45,838,790 (GRCm39)	E487G	probably damaging	Het
Ncoa5	T	C	2: 164,844,714 (GRCm39)	E332G	probably damaging	Het
Nek6	T	A	2: 38,459,643 (GRCm39)	I162N	possibly damaging	Het
Nwd2	C	A	5: 63,957,473 (GRCm39)	R268S	probably damaging	Het
Or4c11	T	C	2: 88,695,345 (GRCm39)	V132A	probably benign	Het
Or9a7	T	C	6: 40,521,272 (GRCm39)	I214V	probably benign	Het
Palm3	T	G	8: 84,754,776 (GRCm39)	S141A	probably benign	Het
Pbrm1	T	C	14: 30,789,536 (GRCm39)	F728L	probably damaging	Het
Phf3	A	G	1: 30,869,632 (GRCm39)	V472A	probably benign	Het
Plekha5	T	A	6: 140,514,576 (GRCm39)	L35*	probably null	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Ppp6r2	G	A	15: 89,152,785 (GRCm39)	E309K	possibly damaging	Het
Ptpn6	T	A	6: 124,704,499 (GRCm39)		probably null	Het
Rasgrf1	T	C	9: 89,882,824 (GRCm39)	V882A	probably benign	Het
Ryr3	T	G	2: 112,480,483 (GRCm39)	E4335D	probably benign	Het
Slc12a5	T	A	2: 164,835,958 (GRCm39)	I892N	probably damaging	Het
Slc22a2	G	A	17: 12,831,318 (GRCm39)	M369I	probably benign	Het
Sox10	A	T	15: 79,040,641 (GRCm39)	Y300N	probably damaging	Het
Speg	T	C	1: 75,352,318 (GRCm39)	F79L	probably benign	Het
Sult1b1	T	A	5: 87,665,311 (GRCm39)	I208L	probably benign	Het
Syt9	A	G	7: 107,105,737 (GRCm39)	N460S	probably benign	Het
Tecpr1	T	A	5: 144,149,410 (GRCm39)	N339I	possibly damaging	Het
Tmem63b	C	A	17: 45,971,870 (GRCm39)	D782Y	possibly damaging	Het
Ttn	T	C	2: 76,725,105 (GRCm39)		probably benign	Het
Upk3bl	G	T	5: 136,086,185 (GRCm39)	R40S	probably benign	Het
Usp28	T	C	9: 48,912,824 (GRCm39)	I25T	probably damaging	Het
Vmn2r27	A	G	6: 124,177,583 (GRCm39)	Y474H	probably damaging	Het
Vps13a	A	T	19: 16,712,246 (GRCm39)		probably null	Het
Wdr36	A	T	18: 32,982,135 (GRCm39)	N371I	possibly damaging	Het
Wnt7b	A	G	15: 85,421,978 (GRCm39)	F228S	probably damaging	Het
Xirp2	T	C	2: 67,338,254 (GRCm39)	I165T	possibly damaging	Het
Zan	T	G	5: 137,406,659 (GRCm39)		probably benign	Het
Zfp760	A	G	17: 21,942,559 (GRCm39)	D578G	possibly damaging	Het
Zfyve19	T	A	2: 119,041,266 (GRCm39)	S61T	probably benign	Het
Zfyve9	T	C	4: 108,575,866 (GRCm39)	D405G	probably damaging	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
F5770:Cfi	UTSW	3	129,648,641 (GRCm39)	missense	possibly damaging	0.62
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
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

PCR Primer
(F):5'- TCAGCCTGCAACAGAGAACAGTG -3'
(R):5'- GCAAATGAGCCAACCTGGTCTGTC -3'

Sequencing Primer
(F):5'- TGAGGGGACAGTGTGCTC -3'
(R):5'- TCTGTCTGTGGAACACACAGTAG -3'

Posted On

2013-10-16