Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00659:Cfi'

12533

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00659

Quality Score

Status

Chromosome

Chromosomal Location

129630432-129668978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129630462 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 2 (K2E)

Ref Sequence

ENSEMBL: ENSMUSP00000142975 (fasta)

Gene Model

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

AlphaFold

Q61129

Predicted Effect

unknown
Transcript: ENSMUST00000077918
AA Change: K2E

SMART Domains

Protein: ENSMUSP00000077074
Gene: ENSMUSG00000058952
AA Change: K2E

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

unknown
Transcript: ENSMUST00000200206
AA Change: K2E

SMART Domains

Protein: ENSMUSP00000142975
Gene: ENSMUSG00000058952
AA Change: K2E

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

Coding Region Coverage

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap4e1	T	C	2: 126,905,221 (GRCm39)	V964A	probably benign	Het
Birc6	T	A	17: 74,967,648 (GRCm39)	V4197E	probably damaging	Het
C8b	T	A	4: 104,658,531 (GRCm39)		probably benign	Het
Cdh13	A	G	8: 120,039,406 (GRCm39)	D616G	probably damaging	Het
Chek1	C	A	9: 36,633,895 (GRCm39)		probably null	Het
Chst11	T	G	10: 83,027,639 (GRCm39)		probably benign	Het
Dhx29	A	G	13: 113,103,169 (GRCm39)		probably benign	Het
Erbb3	A	G	10: 128,406,852 (GRCm39)	S1049P	probably damaging	Het
Fkbp15	T	C	4: 62,251,917 (GRCm39)		probably benign	Het
Fxr2	C	A	11: 69,531,076 (GRCm39)	Q51K	probably benign	Het
Kpna7	T	A	5: 144,944,056 (GRCm39)	I50F	probably damaging	Het
Mdm2	T	C	10: 117,538,204 (GRCm39)	R65G	possibly damaging	Het
N4bp1	G	T	8: 87,588,430 (GRCm39)	D169E	probably damaging	Het
Nlrp9a	A	G	7: 26,257,050 (GRCm39)	I134V	probably benign	Het
Plrg1	T	A	3: 82,977,980 (GRCm39)	S400T	probably damaging	Het
Polr1b	T	C	2: 128,960,020 (GRCm39)		probably null	Het
Sec23b	T	C	2: 144,425,690 (GRCm39)		probably null	Het
Ubr4	C	T	4: 139,148,556 (GRCm39)	T1680I	probably damaging	Het
Usp29	A	G	7: 6,965,281 (GRCm39)	N375D	probably benign	Het
Wrn	A	G	8: 33,812,405 (GRCm39)		probably benign	Het
Zfp422	G	A	6: 116,603,466 (GRCm39)	Q178*	probably null	Het
Zfp938	T	A	10: 82,063,355 (GRCm39)		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
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
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

Posted On

2012-12-06