Mutagenetix > Incidental Mutation

Incidental Mutation 'R7000:Cfi'

544449

Institutional Source

Beutler Lab

Gene Symbol

Cfi

Ensembl Gene

ENSMUSG00000058952

Gene Name

complement component factor i

Synonyms

MMRRC Submission

045105-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7000 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129630432-129668978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 129666522 bp (GRCm39)

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]

AlphaFold

Q61129

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: 8,752,823 (GRCm39)	A525T	probably benign	Het
Abcc6	A	G	7: 45,654,946 (GRCm39)	I515T	possibly damaging	Het
Abi1	G	A	2: 22,832,053 (GRCm39)	A420V	probably damaging	Het
Abtb2	A	T	2: 103,542,787 (GRCm39)	I887F	possibly damaging	Het
Acap3	G	A	4: 155,988,306 (GRCm39)	G602S	possibly damaging	Het
Auts2	T	A	5: 131,469,056 (GRCm39)	T754S	probably benign	Het
AW551984	T	C	9: 39,512,085 (GRCm39)	R12G	probably benign	Het
Bcan	G	A	3: 87,895,686 (GRCm39)	R817*	probably null	Het
Bmp10	A	G	6: 87,411,175 (GRCm39)	T323A	probably benign	Het
Bpnt1	T	C	1: 185,082,053 (GRCm39)	L165P	probably damaging	Het
Casz1	G	A	4: 149,013,693 (GRCm39)	A86T	probably damaging	Het
Ccn3	A	T	15: 54,615,743 (GRCm39)	T303S	probably damaging	Het
Cd1d2	T	C	3: 86,895,080 (GRCm39)	F189L	probably benign	Het
Cep72	A	G	13: 74,206,444 (GRCm39)	M126T	probably damaging	Het
Cep85l	T	A	10: 53,174,295 (GRCm39)	T483S	probably damaging	Het
Chrna7	A	G	7: 62,755,787 (GRCm39)	L253S	probably damaging	Het
Col4a4	T	C	1: 82,475,051 (GRCm39)	H596R	unknown	Het
Cplx3	G	C	9: 57,523,231 (GRCm39)	Q109E	probably benign	Het
Cyp2j8	A	T	4: 96,335,588 (GRCm39)	M402K	probably benign	Het
Cyp3a16	T	A	5: 145,399,980 (GRCm39)		probably null	Het
Dhdh	T	C	7: 45,124,698 (GRCm39)	K332E	possibly damaging	Het
Dnah11	C	A	12: 117,981,396 (GRCm39)	C2590F	probably damaging	Het
Dnah17	T	C	11: 117,916,528 (GRCm39)		probably null	Het
Dtx1	A	G	5: 120,833,148 (GRCm39)	Y97H	probably damaging	Het
Duxf1	T	C	10: 58,058,814 (GRCm39)	T647A	possibly damaging	Het
Elf1	A	G	14: 79,808,208 (GRCm39)	D183G	probably damaging	Het
Esyt3	A	C	9: 99,204,206 (GRCm39)	L94R	probably damaging	Het
Exoc3	A	G	13: 74,330,285 (GRCm39)	Y521H	probably benign	Het
F5	C	T	1: 164,007,075 (GRCm39)	T293M	probably damaging	Het
Fam118b	A	T	9: 35,146,560 (GRCm39)	H102Q	probably damaging	Het
Flad1	T	C	3: 89,309,549 (GRCm39)		probably benign	Het
Flrt3	G	A	2: 140,502,804 (GRCm39)	R275*	probably null	Het
Fndc7	G	A	3: 108,783,964 (GRCm39)	A215V	probably benign	Het
Fscn1	T	A	5: 142,946,382 (GRCm39)	V60E	probably damaging	Het
Gm17175	A	T	14: 51,811,418 (GRCm39)	M1K	probably null	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gprc6a	T	C	10: 51,491,143 (GRCm39)	S694G	probably benign	Het
Iglon5	A	T	7: 43,126,254 (GRCm39)		probably null	Het
Iqch	T	C	9: 63,361,892 (GRCm39)	T874A	probably benign	Het
Lamc2	T	A	1: 153,041,873 (GRCm39)	H87L	possibly damaging	Het
Ldlrad1	T	A	4: 107,066,777 (GRCm39)	D37E	probably benign	Het
Loxhd1	T	C	18: 77,460,129 (GRCm39)		probably null	Het
Lxn	T	G	3: 67,369,704 (GRCm39)	E60D	probably benign	Het
Man2b2	A	G	5: 36,979,213 (GRCm39)	W276R	probably damaging	Het
Mast1	T	C	8: 85,655,598 (GRCm39)	Y182C	probably damaging	Het
Mroh8	C	T	2: 157,058,897 (GRCm39)	R923Q	probably benign	Het
Obscn	A	G	11: 59,026,864 (GRCm39)	L113P	probably damaging	Het
Ocln	C	T	13: 100,671,470 (GRCm39)		probably null	Het
Oog2	A	T	4: 143,921,897 (GRCm39)	Q269L	probably damaging	Het
Or52e8	G	A	7: 104,624,338 (GRCm39)	P285S	probably damaging	Het
Or5b113	A	G	19: 13,341,987 (GRCm39)		probably benign	Het
Osbpl3	A	G	6: 50,274,137 (GRCm39)	S826P	probably damaging	Het
Otogl	T	C	10: 107,615,692 (GRCm39)	N1869S	probably benign	Het
Pamr1	G	A	2: 102,441,968 (GRCm39)	D186N	probably damaging	Het
Pcdhga8	T	A	18: 37,859,946 (GRCm39)	I334K	probably benign	Het
Pde7b	A	G	10: 20,319,038 (GRCm39)	S95P	probably damaging	Het
Pik3cg	A	T	12: 32,242,128 (GRCm39)	V994E	probably damaging	Het
Pkp1	T	C	1: 135,817,692 (GRCm39)	M148V	probably benign	Het
Plbd1	T	G	6: 136,589,836 (GRCm39)	K461Q	probably benign	Het
Pmfbp1	A	G	8: 110,257,221 (GRCm39)	E594G	possibly damaging	Het
Pold3	A	T	7: 99,755,865 (GRCm39)	H60Q	probably damaging	Het
Polr3gl	C	T	3: 96,487,783 (GRCm39)	R52Q	possibly damaging	Het
Ptgds	A	G	2: 25,357,828 (GRCm39)		probably null	Het
Scarb2	T	C	5: 92,601,934 (GRCm39)	D320G	probably benign	Het
Sdk2	T	C	11: 113,693,995 (GRCm39)	Y1812C	probably damaging	Het
Skint8	C	A	4: 111,794,222 (GRCm39)	T204N	probably benign	Het
Slc23a2	T	C	2: 131,936,123 (GRCm39)	Q49R	possibly damaging	Het
Slc26a7	T	C	4: 14,552,476 (GRCm39)	Q227R	probably benign	Het
Sntn	C	T	14: 13,679,108 (GRCm38)	T94I	probably damaging	Het
Spem2	C	T	11: 69,708,582 (GRCm39)	G128S	probably benign	Het
Supt16	A	T	14: 52,408,907 (GRCm39)	S822R	probably damaging	Het
Syn3	T	C	10: 85,916,116 (GRCm39)	Y290C	probably damaging	Het
Tdrd6	C	G	17: 43,938,599 (GRCm39)	E816D	probably benign	Het
Tln1	A	T	4: 43,556,302 (GRCm39)	M72K	probably damaging	Het
Tlnrd1	A	G	7: 83,531,987 (GRCm39)	V148A	probably damaging	Het
Trim24	C	A	6: 37,935,613 (GRCm39)	T832K	probably benign	Het
Ubr4	C	T	4: 139,141,715 (GRCm39)	A1267V	probably damaging	Het
Usp17lb	A	T	7: 104,490,492 (GRCm39)	M145K	probably damaging	Het
Vmn1r178	T	A	7: 23,593,762 (GRCm39)	M270K	probably benign	Het
Vmn2r70	A	T	7: 85,208,819 (GRCm39)	C553S	probably damaging	Het
Vps37c	G	T	19: 10,687,693 (GRCm39)	E51D	probably damaging	Het
Zfp62	T	G	11: 49,107,206 (GRCm39)	Y432*	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
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
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
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'- AGTCTACATCAATGGAACTCTCC -3'
(R):5'- GACGGAATTGGGGAGTTCAC -3'

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

Posted On

2019-05-13