Incidental Mutation 'IGL01387:Cfi'
ID79099
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfi
Ensembl Gene ENSMUSG00000058952
Gene Namecomplement component factor i
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01387
Quality Score
Status
Chromosome3
Chromosomal Location129835884-129875332 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 129874913 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000029629] [ENSMUST00000077918]
Predicted Effect probably benign
Transcript: ENSMUST00000029629
SMART Domains Protein: ENSMUSP00000029629
Gene: ENSMUSG00000027999

DomainStartEndE-ValueType
Pfam:PLA2G12 14 192 4.2e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000077918
SMART Domains Protein: ENSMUSP00000077074
Gene: ENSMUSG00000058952

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
Predicted Effect probably benign
Transcript: ENSMUST00000196838
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,999,762 I288T possibly damaging Het
Akr1c13 T A 13: 4,197,795 probably null Het
Ano2 T C 6: 126,013,277 L787P probably damaging Het
Arf4 A T 14: 26,653,145 I73F possibly damaging Het
Atp6v1e1 A G 6: 120,795,771 probably null Het
Ccdc9 A C 7: 16,284,499 M1R probably null Het
Cep162 A G 9: 87,211,811 L838S probably benign Het
Creb3l3 T C 10: 81,091,276 T107A probably benign Het
Erlin2 T C 8: 27,036,548 L312P probably benign Het
Etv1 T G 12: 38,861,327 M384R probably damaging Het
Exph5 G T 9: 53,373,965 S782I possibly damaging Het
Fsd1 C T 17: 55,996,733 S491F probably damaging Het
Fsip2 A G 2: 82,992,982 N6353S possibly damaging Het
Gk5 T C 9: 96,177,554 probably null Het
Gm11168 T G 9: 3,005,128 S202R possibly damaging Het
Hdlbp T C 1: 93,413,588 D1016G possibly damaging Het
Kpna4 A G 3: 69,102,257 probably benign Het
Lrrn2 T C 1: 132,938,358 V387A possibly damaging Het
Olfr1084 T C 2: 86,639,250 T153A probably benign Het
Olfr1249 T A 2: 89,630,620 R93* probably null Het
Olfr1350 A G 7: 6,570,855 Y288C probably damaging Het
Olfr820 T A 10: 130,017,841 M160K probably damaging Het
Olfr937 A G 9: 39,060,321 L115S probably damaging Het
Plekhs1 A G 19: 56,470,971 Q51R probably benign Het
Rab27b T A 18: 69,985,309 D179V possibly damaging Het
Rprd2 C T 3: 95,765,319 R924H probably benign Het
Shprh T C 10: 11,170,254 I905T probably damaging Het
Trpm8 T C 1: 88,343,287 L433P probably damaging Het
Urb1 A G 16: 90,757,761 L1861S possibly damaging Het
Vmn2r124 C A 17: 18,062,926 T294K probably damaging Het
Wdr66 T A 5: 123,283,546 I654N probably damaging Het
Znrf3 A T 11: 5,338,656 C37* probably null Het
Other mutations in Cfi
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 synonymous 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
V7580:Cfi UTSW 3 129854992 missense possibly damaging 0.62
Posted On2013-11-05