Incidental Mutation 'R6364:Cfi'
ID 513390
Institutional Source Beutler Lab
Gene Symbol Cfi
Ensembl Gene ENSMUSG00000058952
Gene Name complement component factor i
Synonyms
MMRRC Submission 044514-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6364 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 129630432-129668978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 129666495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 406 (S406N)
Ref Sequence ENSEMBL: ENSMUSP00000077074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077918]
AlphaFold Q61129
Predicted Effect probably benign
Transcript: ENSMUST00000077918
AA Change: S406N

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000077074
Gene: ENSMUSG00000058952
AA Change: S406N

DomainStartEndE-ValueType
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: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 99% (69/70)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,869,673 (GRCm39) Y234C possibly damaging Het
Ambra1 C A 2: 91,603,661 (GRCm39) H548Q possibly damaging Het
Ap3d1 T C 10: 80,546,328 (GRCm39) probably null Het
Apol11b A G 15: 77,522,258 (GRCm39) V13A possibly damaging Het
Arhgdib C T 6: 136,909,253 (GRCm39) probably null Het
B3galt1 T A 2: 67,949,016 (GRCm39) S244T probably damaging Het
Bace2 A G 16: 97,214,633 (GRCm39) I274V probably benign Het
Bfsp2 A T 9: 103,325,827 (GRCm39) V272D probably damaging Het
Blm A T 7: 80,144,274 (GRCm39) C782* probably null Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Cic C A 7: 24,972,248 (GRCm39) H660N possibly damaging Het
Cops3 A G 11: 59,726,230 (GRCm39) probably benign Het
Dlec1 G A 9: 118,950,939 (GRCm39) V502I possibly damaging Het
Dync2i1 A T 12: 116,205,352 (GRCm39) D412E probably damaging Het
Epop A G 11: 97,519,513 (GRCm39) S199P probably benign Het
Evi5 G T 5: 107,989,979 (GRCm39) P80Q probably damaging Het
Faf1 T C 4: 109,818,997 (GRCm39) V623A possibly damaging Het
Fam83c T C 2: 155,676,443 (GRCm39) D109G probably damaging Het
Fam83d T C 2: 158,625,179 (GRCm39) probably null Het
Flacc1 G T 1: 58,697,531 (GRCm39) A403D probably damaging Het
Foxn3 T C 12: 99,354,952 (GRCm39) N71D probably benign Het
Gm7298 A G 6: 121,756,402 (GRCm39) R1016G possibly damaging Het
Grin2d T C 7: 45,507,878 (GRCm39) E396G possibly damaging Het
Htra2 C A 6: 83,030,027 (GRCm39) V311F probably damaging Het
Kif6 A T 17: 49,927,651 (GRCm39) T33S probably benign Het
Kmt2c T C 5: 25,514,634 (GRCm39) I3070V probably null Het
Krtap5-2 A T 7: 141,728,800 (GRCm39) C293* probably null Het
Lrp3 T A 7: 34,903,134 (GRCm39) D404V probably benign Het
LTO1 A G 7: 144,473,005 (GRCm39) D105G probably benign Het
Mc2r T G 18: 68,540,607 (GRCm39) I229L probably benign Het
Mtnr1b A G 9: 15,774,300 (GRCm39) M253T possibly damaging Het
Nfat5 A G 8: 108,094,909 (GRCm39) N531S probably benign Het
Niban3 G A 8: 72,051,733 (GRCm39) G23S probably benign Het
Npr2 T A 4: 43,643,622 (GRCm39) I550N probably damaging Het
Npy6r T C 18: 44,409,578 (GRCm39) I333T possibly damaging Het
Nup88 C T 11: 70,838,612 (GRCm39) R468Q probably benign Het
Nup98 G A 7: 101,825,522 (GRCm39) T422I probably damaging Het
Or10aa1 T A 1: 173,869,778 (GRCm39) H87Q possibly damaging Het
Otud4 A G 8: 80,372,970 (GRCm39) N96S probably damaging Het
Paqr6 T C 3: 88,273,265 (GRCm39) F86L probably damaging Het
Ppp4r3b A T 11: 29,138,035 (GRCm39) T90S probably benign Het
Ptbp2 A T 3: 119,534,091 (GRCm39) N23K probably damaging Het
Ralgapb G T 2: 158,304,029 (GRCm39) G596V probably damaging Het
Rdm1 G A 11: 101,521,068 (GRCm39) R94H probably benign Het
Rergl A T 6: 139,477,746 (GRCm39) F28I probably damaging Het
Rif1 G T 2: 51,997,681 (GRCm39) S1000I probably damaging Het
Rnf141 C T 7: 110,420,516 (GRCm39) A163T possibly damaging Het
Scaf4 G A 16: 90,057,136 (GRCm39) Q72* probably null Het
Sdk1 G T 5: 141,948,464 (GRCm39) S603I probably benign Het
Sdsl T C 5: 120,598,674 (GRCm39) I147M probably damaging Het
Serpina6 T C 12: 103,620,495 (GRCm39) N85D probably benign Het
Serpinf2 A G 11: 75,327,315 (GRCm39) I204T probably damaging Het
Shank2 A G 7: 143,964,146 (GRCm39) S795G probably benign Het
Simc1 C T 13: 54,672,413 (GRCm39) Q254* probably null Het
Slc30a3 G A 5: 31,246,083 (GRCm39) P216S possibly damaging Het
Smim14 T A 5: 65,610,639 (GRCm39) I53F probably benign Het
Sp3 T C 2: 72,801,285 (GRCm39) T243A probably benign Het
Srpk2 A G 5: 23,745,465 (GRCm39) F164L probably damaging Het
Stard9 T C 2: 120,543,910 (GRCm39) F4403L probably damaging Het
Tbc1d30 T C 10: 121,130,630 (GRCm39) T267A possibly damaging Het
Tgm7 T A 2: 120,926,878 (GRCm39) R424* probably null Het
Tmbim6 T C 15: 99,304,066 (GRCm39) L113P probably damaging Het
Tmcc1 G A 6: 116,020,722 (GRCm39) probably benign Het
Tomm7 A G 5: 24,049,028 (GRCm39) L15P probably damaging Het
Tpcn1 T C 5: 120,691,875 (GRCm39) Y263C probably damaging Het
Trim34b T C 7: 103,985,733 (GRCm39) F456S probably damaging Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Vmn2r108 A G 17: 20,691,260 (GRCm39) I421T probably benign Het
Wdr43 A G 17: 71,964,649 (GRCm39) E676G probably damaging Het
Zcchc14 G T 8: 122,331,598 (GRCm39) probably benign Het
Zfp64 C A 2: 168,754,186 (GRCm39) G25V probably damaging Het
Zswim8 C A 14: 20,763,079 (GRCm39) P326H probably damaging Het
Other mutations in Cfi
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- TGACCACTCAGTCACCCTAG -3'
(R):5'- GACGGAATTGGGGAGTTCAC -3'

Sequencing Primer
(F):5'- GCAGAGCTGAGAGTTCTACATCTTC -3'
(R):5'- AATTGGGGAGTTCACATTCTTTC -3'
Posted On 2018-04-27