Mutagenetix > Incidental Mutations

Incidental Mutation 'R0102:Cfi'

63280

Institutional Source

Beutler Lab

Gene Symbol

Cfi

Ensembl Gene

ENSMUSG00000058952

Gene Name

complement component factor i

Synonyms

MMRRC Submission

038388-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0102 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

129835884-129875332 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 129848767 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 90 (H90P)

Ref Sequence

ENSEMBL: ENSMUSP00000142975 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077918
AA Change: H90P

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077074
Gene: ENSMUSG00000058952
AA Change: H90P

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 damaging
Transcript: ENSMUST00000200206
AA Change: H90P

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142975
Gene: ENSMUSG00000058952
AA Change: H90P

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

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.5%
20x: 91.8%

Validation Efficiency

98% (65/66)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,068,113	K1021R	probably damaging	Het
2610528J11Rik	G	A	4: 118,529,565	V36M	probably damaging	Het
4930402F06Rik	T	A	2: 35,375,783	R292*	probably null	Het
Abcb4	T	C	5: 8,909,194	F207S	probably damaging	Het
Afap1l2	G	T	19: 56,928,440		probably benign	Het
Arfgef2	A	T	2: 166,845,465	H203L	probably benign	Het
Col1a2	T	A	6: 4,520,775	S371T	possibly damaging	Het
Cyp2d10	C	T	15: 82,404,593	M229I	probably benign	Het
Dnah5	A	G	15: 28,245,751		probably benign	Het
Dnttip2	G	T	3: 122,275,803	M222I	probably benign	Het
Dync1li2	A	T	8: 104,428,125	Y284N	probably benign	Het
Ebf1	T	C	11: 44,991,455	Y413H	probably benign	Het
Exog	A	G	9: 119,452,253	T186A	possibly damaging	Het
Fam171a2	T	C	11: 102,444,113	N66S	possibly damaging	Het
Gad1	G	A	2: 70,587,239		probably null	Het
Golgb1	C	A	16: 36,875,468		probably benign	Het
Gprc5a	A	T	6: 135,079,035	N160I	probably damaging	Het
Haus3	A	G	5: 34,165,914		probably null	Het
Klhl20	A	T	1: 161,090,445	C90*	probably null	Het
Krt84	T	A	15: 101,528,703	I342L	probably damaging	Het
Lifr	G	A	15: 7,178,892	D584N	probably damaging	Het
Lrp1b	G	A	2: 41,408,985		probably benign	Het
Lrtm1	T	A	14: 29,022,227		probably benign	Het
Med25	C	T	7: 44,885,480	V80I	possibly damaging	Het
Mest	A	G	6: 30,746,270	I279V	probably damaging	Het
Mki67	T	C	7: 135,713,803	R81G	probably benign	Het
Naa25	A	G	5: 121,435,569	D787G	possibly damaging	Het
Naaladl1	C	T	19: 6,112,504	P465S	probably damaging	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Necab3	G	A	2: 154,545,312	R302C	probably damaging	Het
Nsg1	A	T	5: 38,158,910	D32E	probably damaging	Het
Nuggc	A	G	14: 65,613,551	D290G	probably null	Het
Nup205	A	T	6: 35,225,780		probably benign	Het
Olfr1100	A	T	2: 86,978,205	I197N	possibly damaging	Het
Olfr1216	T	C	2: 89,013,671	Y131C	probably damaging	Het
Olfr1250	T	C	2: 89,656,655	N262S	probably benign	Het
Olfr1308	G	C	2: 111,960,597	Q159E	probably damaging	Het
Olfr1361	T	C	13: 21,658,735	D196G	probably damaging	Het
Olfr743	T	A	14: 50,533,631	L73Q	probably damaging	Het
Otp	T	C	13: 94,877,155	V27A	probably benign	Het
Phip	A	T	9: 82,905,792		probably null	Het
Pon2	A	G	6: 5,289,091		probably benign	Het
Ppp1r12b	T	A	1: 134,835,899		probably null	Het
Ppp1r15b	A	G	1: 133,133,170	N475S	probably damaging	Het
Prrt3	A	T	6: 113,497,829	L144H	probably damaging	Het
Psmb7	A	G	2: 38,643,365	V50A	possibly damaging	Het
Sacs	T	A	14: 61,204,568	S1354R	probably damaging	Het
Sdcbp2	A	G	2: 151,583,964	T29A	probably benign	Het
Shbg	T	A	11: 69,617,589		probably benign	Het
Shcbp1	A	G	8: 4,744,452	I447T	probably damaging	Het
Tbc1d9b	T	C	11: 50,135,849	V48A	probably damaging	Het
Thbd	A	T	2: 148,406,983	C322S	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Trappc12	A	T	12: 28,746,752	F260L	probably damaging	Het
Trim10	C	A	17: 36,870,182	H102N	probably damaging	Het
Ube2u	A	G	4: 100,549,925	T215A	possibly damaging	Het
Vcan	T	G	13: 89,703,668	T1058P	probably benign	Het

Other mutations in Cfi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Cfi	APN	3	129873095	missense	probably damaging	0.97
IGL00659:Cfi	APN	3	129836813	missense	unknown
IGL01310:Cfi	APN	3	129858431	missense	probably damaging	1.00
IGL01387:Cfi	APN	3	129874913	unclassified	probably benign
IGL01897:Cfi	APN	3	129858385	missense	probably damaging	1.00
IGL02418:Cfi	APN	3	129848812	missense	probably benign	0.20
F5770:Cfi	UTSW	3	129854992	missense	possibly damaging	0.62
R0085:Cfi	UTSW	3	129874986	missense	probably benign	0.00
R0102:Cfi	UTSW	3	129848767	missense	probably damaging	0.97
R0835:Cfi	UTSW	3	129868542	missense	probably damaging	1.00
R1191:Cfi	UTSW	3	129868527	missense	probably benign	0.01
R1221:Cfi	UTSW	3	129872969	missense	probably damaging	0.99
R1576:Cfi	UTSW	3	129873050	missense	probably damaging	0.98
R1809:Cfi	UTSW	3	129873119	critical splice donor site	probably null
R1940:Cfi	UTSW	3	129858828	splice site	probably benign
R1983:Cfi	UTSW	3	129868545	missense	probably damaging	1.00
R2069:Cfi	UTSW	3	129858804	splice site	probably null
R3012:Cfi	UTSW	3	129874930	missense	probably damaging	1.00
R4334:Cfi	UTSW	3	129850829	missense	possibly damaging	0.80
R4596:Cfi	UTSW	3	129868500	missense	probably damaging	0.98
R4888:Cfi	UTSW	3	129873077	missense	probably damaging	1.00
R5121:Cfi	UTSW	3	129873077	missense	probably damaging	1.00
R5322:Cfi	UTSW	3	129873040	missense	probably damaging	1.00
R5673:Cfi	UTSW	3	129855009	missense	probably benign	0.02
R6084:Cfi	UTSW	3	129858370	missense	probably benign	0.00
R6364:Cfi	UTSW	3	129872846	missense	probably benign	0.36
R6770:Cfi	UTSW	3	129858730	missense	probably benign	0.21
R7000:Cfi	UTSW	3	129872873	missense	probably damaging	1.00
R7108:Cfi	UTSW	3	129875016	missense	probably damaging	1.00
R7194:Cfi	UTSW	3	129855059	missense	probably damaging	1.00
R7342:Cfi	UTSW	3	129875132	missense	probably damaging	1.00
R7470:Cfi	UTSW	3	129855087	missense	probably benign	0.01
R7538:Cfi	UTSW	3	129858815	missense	probably benign	0.08
R7908:Cfi	UTSW	3	129848584	missense	probably benign	0.01
R7954:Cfi	UTSW	3	129868585	critical splice donor site	probably null
R8017:Cfi	UTSW	3	129855099	missense	probably benign	0.00
R8135:Cfi	UTSW	3	129855000	missense	probably benign	0.00
R8155:Cfi	UTSW	3	129855090	missense	probably benign	0.00
R8217:Cfi	UTSW	3	129855001	missense	possibly damaging	0.61
R8530:Cfi	UTSW	3	129850733	missense	possibly damaging	0.79
V7580:Cfi	UTSW	3	129854992	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- CCATGAGGGTGACCTGCCTAAAAC -3'
(R):5'- TGACAGCAAAGCATTTTGTGACCG -3'

Sequencing Primer
(F):5'- TGACCTGCCTAAAACTGGGG -3'
(R):5'- CGAAAGGATGGCCTATCACTTC -3'

Posted On

2013-07-30