Mutagenetix > Incidental Mutation

Incidental Mutation 'R7108:Cfi'

551303

Institutional Source

Beutler Lab

Gene Symbol

Cfi

Ensembl Gene

ENSMUSG00000058952

Gene Name

complement component factor i

Synonyms

MMRRC Submission

045200-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7108 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129630432-129668978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 129668665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 564 (V564M)

Ref Sequence

ENSEMBL: ENSMUSP00000077074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029629] [ENSMUST00000077918]

AlphaFold

Q61129

Predicted Effect

probably benign
Transcript: ENSMUST00000029629

SMART Domains

Protein: ENSMUSP00000029629
Gene: ENSMUSG00000027999

Domain	Start	End	E-Value	Type
Pfam:PLA2G12	14	192	4.2e-93	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000077918
AA Change: V564M

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

SMART Domains

Protein: ENSMUSP00000077074
Gene: ENSMUSG00000058952
AA Change: V564M

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: ENSMUST00000196838

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,771,750 (GRCm39)	S411P	probably damaging	Het
4930503L19Rik	A	T	18: 70,601,547 (GRCm39)	Y112N	probably benign	Het
Abcd2	A	T	15: 91,075,477 (GRCm39)	V112E	probably benign	Het
Acadm	A	T	3: 153,631,437 (GRCm39)	Y353*	probably null	Het
Adra2c	A	G	5: 35,437,342 (GRCm39)	D38G	probably benign	Het
Ankrd10	C	T	8: 11,662,624 (GRCm39)	G370R	probably damaging	Het
Arfgef2	T	A	2: 166,715,528 (GRCm39)	N1324K	possibly damaging	Het
Atp6v1b2	A	G	8: 69,555,153 (GRCm39)	T172A	probably damaging	Het
Bloc1s1	T	A	10: 128,758,592 (GRCm39)	K22M	possibly damaging	Het
Brpf3	A	G	17: 29,036,099 (GRCm39)	T599A	probably benign	Het
Cacna1e	TTCCAGTCTC	TTC	1: 154,344,741 (GRCm39)		probably null	Het
Ccdc186	T	C	19: 56,787,192 (GRCm39)	D592G	probably damaging	Het
Cfap161	A	T	7: 83,442,518 (GRCm39)	D98E	possibly damaging	Het
Cilp2	T	A	8: 70,333,779 (GRCm39)	Q1073L	probably damaging	Het
Cox6b1	A	G	7: 30,322,929 (GRCm39)	C40R	possibly damaging	Het
Cyp3a59	A	T	5: 146,033,143 (GRCm39)	M172L	probably benign	Het
Cyth1	T	C	11: 118,073,739 (GRCm39)	D198G	probably damaging	Het
Daam2	T	C	17: 49,767,702 (GRCm39)	D963G	probably damaging	Het
Ddi2	A	T	4: 141,433,248 (GRCm39)	D209E	probably benign	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnai7	G	A	6: 145,131,591 (GRCm39)	Q351*	probably null	Het
Dpagt1	G	T	9: 44,238,318 (GRCm39)		probably benign	Het
Drc3	T	A	11: 60,261,380 (GRCm39)	F177Y	probably benign	Het
Dsg2	T	C	18: 20,734,920 (GRCm39)	V966A	probably damaging	Het
E4f1	A	G	17: 24,663,552 (GRCm39)	V633A	probably damaging	Het
Eif2ak2	T	A	17: 79,165,965 (GRCm39)	R411*	probably null	Het
Frem2	T	C	3: 53,560,934 (GRCm39)	E1191G	probably damaging	Het
Fry	T	C	5: 150,319,251 (GRCm39)	V972A	probably damaging	Het
Fry	T	A	5: 150,414,555 (GRCm39)	C467S		Het
Fscn1	T	C	5: 142,946,270 (GRCm39)	Y23H	probably damaging	Het
Gm16506	T	A	14: 43,961,759 (GRCm39)	I163F		Het
Gm21103	T	C	14: 17,484,768 (GRCm39)	Y92C	probably damaging	Het
Golgb1	A	G	16: 36,734,083 (GRCm39)	H1151R	probably benign	Het
Gprc5c	T	C	11: 114,755,108 (GRCm39)	Y262H	probably damaging	Het
Hc	G	T	2: 34,929,706 (GRCm39)	N245K	probably benign	Het
Hps6	T	A	19: 45,993,929 (GRCm39)	L622Q	probably damaging	Het
Hsd17b1	T	C	11: 100,970,035 (GRCm39)	Y156H	probably damaging	Het
Ireb2	T	A	9: 54,813,925 (GRCm39)	F799L	probably damaging	Het
Irf1	A	G	11: 53,665,238 (GRCm39)	D205G	probably damaging	Het
Kif12	A	T	4: 63,089,442 (GRCm39)	F103L	probably benign	Het
Krt12	C	T	11: 99,306,878 (GRCm39)	V475M	unknown	Het
Lca5	T	A	9: 83,305,222 (GRCm39)	T195S	probably benign	Het
Lrrc17	T	C	5: 21,780,337 (GRCm39)	V437A	possibly damaging	Het
Malt1	G	T	18: 65,597,122 (GRCm39)	D468Y	probably damaging	Het
Man2b2	C	T	5: 36,972,829 (GRCm39)	A562T	probably benign	Het
Mrc1	C	T	2: 14,308,957 (GRCm39)	Q794*	probably null	Het
Muc16	T	A	9: 18,566,529 (GRCm39)	I1997L	unknown	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Mycbp2	A	T	14: 103,360,039 (GRCm39)	F4518Y	probably damaging	Het
Myo5a	T	A	9: 75,037,274 (GRCm39)	I159N	probably damaging	Het
Nat1	T	C	8: 67,943,672 (GRCm39)	V19A	probably benign	Het
Ndst4	A	G	3: 125,355,120 (GRCm39)	T343A	probably damaging	Het
Nlrp9b	A	T	7: 19,779,855 (GRCm39)	L839F	probably damaging	Het
Nxnl1	A	G	8: 72,019,198 (GRCm39)	I9T	probably benign	Het
Odr4	T	C	1: 150,258,041 (GRCm39)	Y198C	probably benign	Het
Or1l4b	C	T	2: 37,036,272 (GRCm39)	T16I	probably benign	Het
Or2ag12	G	A	7: 106,277,255 (GRCm39)	A146V	probably benign	Het
Or2t49	T	A	11: 58,393,380 (GRCm39)	M7L	probably benign	Het
Or52b4i	A	T	7: 102,191,199 (GRCm39)	I19F	probably damaging	Het
Or7a35	C	A	10: 78,853,483 (GRCm39)	S109*	probably null	Het
Pou5f2	T	C	13: 78,173,384 (GRCm39)	S109P	possibly damaging	Het
Prkcz	G	A	4: 155,371,250 (GRCm39)	Q321*	probably null	Het
Prr18	G	T	17: 8,560,363 (GRCm39)	R173L	probably damaging	Het
Ralgapb	T	C	2: 158,334,380 (GRCm39)	Y1364H	probably damaging	Het
Ralgapb	A	T	2: 158,336,582 (GRCm39)	I1407F	probably damaging	Het
Sacs	T	A	14: 61,448,458 (GRCm39)	Y3501*	probably null	Het
Sall3	G	A	18: 81,016,969 (GRCm39)	P320S	probably benign	Het
Scn8a	A	T	15: 100,937,659 (GRCm39)	H1676L	probably benign	Het
Shmt1	T	C	11: 60,689,470 (GRCm39)	D178G	probably damaging	Het
Slmap	T	C	14: 26,143,676 (GRCm39)	K737R	probably benign	Het
Ssh2	G	A	11: 77,345,620 (GRCm39)	V1202I	probably benign	Het
Stard7	A	G	2: 127,137,414 (GRCm39)	D288G	possibly damaging	Het
Tek	A	T	4: 94,741,724 (GRCm39)	D827V	probably damaging	Het
Tfap2e	A	G	4: 126,614,356 (GRCm39)	L276P	probably damaging	Het
Tns3	T	C	11: 8,387,251 (GRCm39)	N1312S	probably benign	Het
Tubd1	T	A	11: 86,448,631 (GRCm39)	S315T	probably damaging	Het
Ube2f	T	A	1: 91,192,941 (GRCm39)	C50*	probably null	Het
Vmn2r109	T	C	17: 20,785,006 (GRCm39)	I5V	probably benign	Het
Vmn2r39	T	C	7: 9,026,667 (GRCm39)	T445A	probably damaging	Het
Zfp764l1	A	G	7: 126,990,695 (GRCm39)	S431P	probably benign	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
R7000:Cfi	UTSW	3	129,666,522 (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'- AGTCCTTCTGTGCATCAGTG -3'
(R):5'- TTCTTGCCAGCTCTGAGGAG -3'

Sequencing Primer
(F):5'- CATCAGTGTTGGGGAGGCAG -3'
(R):5'- TTGCCAGCTCTGAGGAGAACTAAC -3'

Posted On

2019-05-15