Incidental Mutation 'IGL01897:Cfi'
ID 179430
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 # IGL01897
Quality Score
Status
Chromosome 3
Chromosomal Location 129630432-129668978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129652034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 235 (V235A)
Ref Sequence ENSEMBL: ENSMUSP00000077074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077918]
AlphaFold Q61129
Predicted Effect probably damaging
Transcript: ENSMUST00000077918
AA Change: V235A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077074
Gene: ENSMUSG00000058952
AA Change: V235A

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 A G 1: 125,346,025 (GRCm39) Y21H possibly damaging Het
Adamts15 A T 9: 30,813,448 (GRCm39) S906T probably damaging Het
Brat1 A G 5: 140,703,670 (GRCm39) D641G probably benign Het
Ccdc42 G A 11: 68,485,101 (GRCm39) R205H probably benign Het
Cdadc1 T C 14: 59,829,986 (GRCm39) probably null Het
Ctps1 T A 4: 120,424,476 (GRCm39) D46V probably damaging Het
Cyb5d1 A T 11: 69,284,587 (GRCm39) D188E probably benign Het
Cyp19a1 G T 9: 54,075,813 (GRCm39) T414N probably benign Het
Cyp2c40 A T 19: 39,792,217 (GRCm39) C242* probably null Het
Eif3b A T 5: 140,411,202 (GRCm39) T218S possibly damaging Het
Fasn A T 11: 120,698,765 (GRCm39) L2475Q probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Heyl A T 4: 123,140,400 (GRCm39) I320F probably damaging Het
Itpr3 T A 17: 27,330,236 (GRCm39) V1618E probably damaging Het
Kif7 A T 7: 79,350,800 (GRCm39) I1007N probably damaging Het
Lat2 A G 5: 134,635,481 (GRCm39) probably benign Het
Lipm A T 19: 34,098,708 (GRCm39) D394V probably damaging Het
Lmbrd1 T A 1: 24,782,977 (GRCm39) I307K possibly damaging Het
Mief1 T C 15: 80,132,709 (GRCm39) probably benign Het
Mta2 C T 19: 8,925,130 (GRCm39) Q333* probably null Het
Neb T A 2: 52,170,587 (GRCm39) E1695V possibly damaging Het
Npc1l1 A T 11: 6,177,879 (GRCm39) N510K probably benign Het
Or5af1 T C 11: 58,722,465 (GRCm39) F162L probably damaging Het
P2rx3 A C 2: 84,853,825 (GRCm39) probably benign Het
Pdgfc A G 3: 81,111,639 (GRCm39) E198G possibly damaging Het
Pkdcc T A 17: 83,527,548 (GRCm39) I242N probably damaging Het
Pkn3 C T 2: 29,972,824 (GRCm39) probably benign Het
Rcan2 T G 17: 44,147,325 (GRCm39) D54E probably damaging Het
Tmeff2 T A 1: 51,171,369 (GRCm39) Y202N probably damaging Het
Unc13c A G 9: 73,453,309 (GRCm39) L1827P probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Wfdc15a G T 2: 164,041,896 (GRCm39) Q21K probably benign Het
Zfp951 C A 5: 104,963,149 (GRCm39) S139I probably benign 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
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 2014-05-07