Incidental Mutation 'IGL02418:Cfi'
ID292542
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 #IGL02418
Quality Score
Status
Chromosome3
Chromosomal Location129835884-129875332 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129848812 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 105 (H105R)
Ref Sequence ENSEMBL: ENSMUSP00000142975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077918] [ENSMUST00000200206]
Predicted Effect probably benign
Transcript: ENSMUST00000077918
AA Change: H105R

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000077074
Gene: ENSMUSG00000058952
AA Change: H105R

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: ENSMUST00000200206
AA Change: H105R

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000142975
Gene: ENSMUSG00000058952
AA Change: H105R

DomainStartEndE-ValueType
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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T A 16: 56,604,116 probably benign Het
Acsbg2 A G 17: 56,849,730 V436A probably benign Het
Afap1l1 T C 18: 61,752,577 D156G probably damaging Het
AI481877 A T 4: 59,049,075 probably benign Het
Arhgap21 G A 2: 20,880,900 R489C probably damaging Het
Arhgap26 G A 18: 39,357,567 probably benign Het
Bbs5 T G 2: 69,655,505 *89G probably null Het
Ceacam5 A T 7: 17,759,434 Y794F possibly damaging Het
Ces3b T C 8: 105,085,647 V176A probably damaging Het
Chat C T 14: 32,446,949 V210I possibly damaging Het
Chd1l A G 3: 97,581,099 S534P probably benign Het
Cyb5rl T C 4: 107,070,985 L106P probably damaging Het
Cyp21a1 A G 17: 34,804,188 Het
Dnah12 T C 14: 26,773,722 C1436R probably damaging Het
Flg2 T A 3: 93,201,054 F130I probably benign Het
Fryl T A 5: 73,110,176 probably benign Het
Galnt10 T C 11: 57,781,168 V428A probably benign Het
Ganab A G 19: 8,911,069 D496G probably null Het
Gapvd1 T C 2: 34,730,518 T44A probably benign Het
Gm17093 T A 14: 44,520,728 Het
Gm5356 A T 8: 89,187,436 noncoding transcript Het
Gmppa G T 1: 75,439,020 G126C probably damaging Het
Il23r T C 6: 67,490,672 H37R possibly damaging Het
Itga11 A G 9: 62,744,632 I349V probably benign Het
Lrrc42 A T 4: 107,243,336 Y159* probably null Het
Mettl11b A T 1: 163,703,156 V238E probably damaging Het
Naa16 C A 14: 79,383,366 R57L probably damaging Het
Olfr967 A G 9: 39,750,491 Y35C probably damaging Het
Oxtr A T 6: 112,477,239 H21Q probably damaging Het
Paqr7 A G 4: 134,506,973 Y47C probably damaging Het
Paxbp1 A C 16: 91,034,112 C459G probably damaging Het
Pnp2 C T 14: 50,963,836 R222C possibly damaging Het
Rtl1 T C 12: 109,590,449 D1652G probably damaging Het
Spata4 C A 8: 54,609,943 N294K probably benign Het
Tcp11l2 T A 10: 84,613,606 Y478* probably null Het
Tcte1 T A 17: 45,541,202 S454T probably benign Het
Tex45 T A 8: 3,476,080 F78I probably damaging Het
Thsd4 C T 9: 60,428,315 V105I probably damaging Het
Tmem117 T A 15: 94,931,884 I200N probably benign Het
Tpgs1 G A 10: 79,669,455 V16M probably benign Het
Ttn G T 2: 76,967,103 T539K probably benign Het
Usp24 A G 4: 106,436,360 S2542G probably benign Het
Vmn2r44 A T 7: 8,377,865 L343H probably damaging Het
Zmat2 T A 18: 36,794,339 Y21N probably damaging Het
Zyx C T 6: 42,357,393 A517V probably 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
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
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 On2015-04-16