Mutagenetix > Incidental Mutations

Incidental Mutation 'R7194:Cfi'

559769

Institutional Source

Beutler Lab

Gene Symbol

Cfi

Ensembl Gene

ENSMUSG00000058952

Gene Name

complement component factor i

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

129835884-129875332 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 129855059 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 197 (S197R)

Ref Sequence

ENSEMBL: ENSMUSP00000077074 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000077918
AA Change: S197R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000077074
Gene: ENSMUSG00000058952
AA Change: S197R

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: ENSMUST00000200206

SMART Domains

Protein: ENSMUSP00000142975
Gene: ENSMUSG00000058952

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	G	6: 96,164,775	E429D	probably benign	Het
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
Aadat	A	G	8: 60,526,622	I173V	probably benign	Het
Abi3bp	C	T	16: 56,562,371	R115C	probably damaging	Het
Adam18	A	G	8: 24,651,852	S234P	possibly damaging	Het
Adam20	A	G	8: 40,796,412	R520G	probably benign	Het
Angel2	C	G	1: 190,944,997	T514R	probably damaging	Het
Ankar	A	T	1: 72,659,033	I954N	probably benign	Het
Ankrd7	A	T	6: 18,879,343	Y262F	probably benign	Het
Ano8	C	A	8: 71,482,363	L398F	possibly damaging	Het
App	C	T	16: 85,025,431	V356I	probably benign	Het
Atp1a2	C	A	1: 172,280,627	E636*	probably null	Het
Cckbr	G	A	7: 105,435,345	E429K	possibly damaging	Het
Chn2	A	G	6: 54,286,177		probably null	Het
Col3a1	C	A	1: 45,331,700	A405D	unknown	Het
Colec12	A	T	18: 9,848,248	N142I	probably benign	Het
Copa	T	C	1: 172,119,944	L1109P	probably damaging	Het
Cpeb3	T	A	19: 37,174,752	M75L	probably benign	Het
Cyp2d11	T	C	15: 82,391,768	Y204C	probably benign	Het
Defa17	A	G	8: 21,656,597	T80A	probably benign	Het
Dppa5a	C	T	9: 78,367,720		probably null	Het
Fat4	G	T	3: 38,888,884	S642I	probably damaging	Het
Fat4	T	A	3: 38,983,895	C3899S	probably damaging	Het
Fn1	A	G	1: 71,602,323	V1869A	probably damaging	Het
Gm10308	A	T	17: 91,088,961	I104L	unknown	Het
Gm15448	A	G	7: 3,824,793	W122R		Het
Gpr139	C	T	7: 119,144,673	A230T	possibly damaging	Het
Grm8	T	C	6: 27,618,487	N452S	probably benign	Het
Hmox1	T	C	8: 75,096,923	V73A	probably benign	Het
Hspa4	A	G	11: 53,265,938	F641L	probably damaging	Het
Ifi207	T	G	1: 173,729,924	H416P	possibly damaging	Het
Igkv10-96	G	T	6: 68,632,044	T89K	possibly damaging	Het
Kmt2d	A	C	15: 98,843,833	V4482G	unknown	Het
Krt28	T	A	11: 99,374,404	K146*	probably null	Het
Krt82	T	C	15: 101,542,756	N406S	probably damaging	Het
Marveld3	A	T	8: 109,959,845		probably null	Het
Mllt6	C	T	11: 97,673,568	S370L	probably benign	Het
Muc16	A	G	9: 18,674,454	L26S	unknown	Het
Mup12	T	A	4: 60,740,735	E48V	probably benign	Het
Myh1	G	A	11: 67,211,357	V825I	probably benign	Het
Nipal3	G	A	4: 135,474,421	T152I	probably benign	Het
Nrg3	A	T	14: 39,472,478	M108K	probably benign	Het
Olfr961	G	A	9: 39,647,091	V122I	probably benign	Het
Oog3	A	T	4: 144,162,599	I3N	probably damaging	Het
Pkhd1l1	T	C	15: 44,529,116	C1616R	probably damaging	Het
Ppa2	T	A	3: 133,348,192		probably null	Het
Ppfibp2	T	A	7: 107,722,980		probably null	Het
Ppp4c	T	C	7: 126,786,481	N229D	probably damaging	Het
Ptpn9	T	C	9: 57,022,286	F96L	probably damaging	Het
Pygl	A	G	12: 70,194,320	V742A	probably benign	Het
Ranbp2	A	G	10: 58,476,769	T1104A	probably benign	Het
Rasal1	G	A	5: 120,675,492	A644T	probably benign	Het
Rcor3	T	A	1: 192,125,961	T139S	possibly damaging	Het
Rfx5	T	A	3: 94,955,143	I37N	probably damaging	Het
Rnf112	C	T	11: 61,450,857	G374R	probably damaging	Het
Rrp12	T	C	19: 41,871,540	I1034V	probably benign	Het
Sacs	T	A	14: 61,210,089	Y3195N	possibly damaging	Het
Scn4a	A	G	11: 106,324,236	I1243T	probably benign	Het
Sirt7	A	T	11: 120,618,973	C362S	probably benign	Het
Slc17a6	T	A	7: 51,626,892	S130T	probably damaging	Het
Snrnp48	A	C	13: 38,209,899	Y60S	probably damaging	Het
Syne1	T	C	10: 5,110,859	E7260G	probably damaging	Het
Trbv15	C	T	6: 41,141,595	T95I	probably benign	Het
Trip12	A	T	1: 84,794,222	N68K	probably benign	Het
Ugcg	A	G	4: 59,213,210	Y132C	probably damaging	Het
Usp9y	A	T	Y: 1,304,672	C2391S	probably damaging	Het
Vmn1r103	C	A	7: 20,510,513	V8L	probably benign	Het
Vmn2r15	T	A	5: 109,292,783	N403I	probably damaging	Het
Zbtb11	T	C	16: 56,007,188	S1006P	probably damaging	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
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
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'- CTTCTACAGTCTCTAAATCATTTGGGG -3'
(R):5'- AACTTAGCAGGGGCATCACTG -3'

Sequencing Primer
(F):5'- GGAAAGTTTTTCTGTAGAGCCTTAC -3'
(R):5'- AGGGGCATCACTGTCTCCTTG -3'

Posted On

2019-06-26