Incidental Mutation 'IGL01310:Cfi'
ID73644
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 #IGL01310
Quality Score
Status
Chromosome3
Chromosomal Location129835884-129875332 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 129858431 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 250 (N250K)
Ref Sequence ENSEMBL: ENSMUSP00000077074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077918]
Predicted Effect probably damaging
Transcript: ENSMUST00000077918
AA Change: N250K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077074
Gene: ENSMUSG00000058952
AA Change: N250K

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik C A 6: 50,574,195 V425L probably benign Het
4930431F12Rik A T 5: 44,967,814 noncoding transcript Het
Abca12 A T 1: 71,284,156 I1589N probably benign Het
Abca8a T G 11: 110,059,975 D888A probably benign Het
Adam5 C T 8: 24,742,134 probably benign Het
Amer1 A T X: 95,427,110 N467K probably benign Het
Atp6v0a2 A G 5: 124,646,028 D272G probably damaging Het
Cacna1b A T 2: 24,685,782 N751K probably damaging Het
Cndp2 G T 18: 84,670,877 P260Q possibly damaging Het
Cnnm3 A G 1: 36,512,875 D322G probably benign Het
Crybg1 A G 10: 44,003,600 S531P probably damaging Het
Crybg1 A T 10: 43,975,058 S1606T possibly damaging Het
Espnl A T 1: 91,340,611 K320* probably null Het
Glt1d1 A G 5: 127,632,320 T13A possibly damaging Het
Gpam C T 19: 55,078,332 A584T possibly damaging Het
Gpr19 A G 6: 134,869,742 I289T probably damaging Het
Grm8 T C 6: 27,363,801 I572V probably damaging Het
Gtpbp4 A T 13: 8,977,272 N502K probably benign Het
Herpud2 T C 9: 25,150,951 M6V probably benign Het
Igdcc3 T C 9: 65,178,442 V263A probably damaging Het
Il33 G A 19: 29,952,756 A65T probably benign Het
Itga9 T A 9: 118,769,159 M1K probably null Het
Izumo3 T C 4: 92,146,980 probably benign Het
Kdr G A 5: 75,949,601 P909S probably damaging Het
Kirrel C T 3: 87,089,875 E262K probably benign Het
Krt25 T A 11: 99,318,170 Q278L probably benign Het
Lgi2 G T 5: 52,554,465 P195Q probably benign Het
Lpcat3 T C 6: 124,699,338 F120S possibly damaging Het
Nalcn C T 14: 123,317,249 R910Q probably benign Het
Nrxn1 A G 17: 90,059,474 probably null Het
Nuf2 A T 1: 169,498,862 V440E probably benign Het
Olfr1130 T A 2: 87,607,508 I40N possibly damaging Het
Olfr1306 C T 2: 111,912,307 V208M probably benign Het
Olfr615 C T 7: 103,560,801 S108F probably benign Het
Olfr775 T C 10: 129,250,996 I154T possibly damaging Het
Pfpl A G 19: 12,428,610 D75G probably damaging Het
Pgm5 A G 19: 24,834,766 V134A possibly damaging Het
Prkch A G 12: 73,759,013 I521V possibly damaging Het
Rps6kc1 T A 1: 190,783,625 E968V probably benign Het
Slc25a30 T C 14: 75,769,597 Y153C probably damaging Het
Smtnl2 T A 11: 72,401,345 probably null Het
Tbc1d14 T A 5: 36,543,200 K275* probably null Het
Tnc T C 4: 64,013,077 T799A probably benign Het
Trdn A T 10: 33,305,098 probably benign Het
Ttn T C 2: 76,876,535 probably benign Het
Uaca T C 9: 60,872,225 M1296T probably benign Het
Ubash3a A C 17: 31,215,142 I154L probably benign Het
Vmn2r4 T A 3: 64,409,779 probably null Het
Xpc T C 6: 91,490,107 K915E probably benign Het
Zfp318 T C 17: 46,413,227 I2052T possibly damaging 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
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
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
R8767:Cfi UTSW 3 129850848 critical splice donor site probably null
V7580:Cfi UTSW 3 129854992 missense possibly damaging 0.62
Posted On2013-10-07