Incidental Mutation 'IGL01410:Cfp'
ID 79989
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfp
Ensembl Gene ENSMUSG00000001128
Gene Name complement factor properdin
Synonyms Pfc
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL01410
Quality Score
Status
Chromosome X
Chromosomal Location 20791693-20797794 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 20795963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 88 (T88I)
Ref Sequence ENSEMBL: ENSMUSP00000001156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001156] [ENSMUST00000009550]
AlphaFold P11680
Predicted Effect probably damaging
Transcript: ENSMUST00000001156
AA Change: T88I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000001156
Gene: ENSMUSG00000001128
AA Change: T88I

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
TSP1 76 130 1.52e-9 SMART
TSP1 135 187 1.79e-15 SMART
TSP1 192 251 3.61e-11 SMART
TSP1 256 309 1.37e-11 SMART
TSP1 314 372 1.43e-1 SMART
TSP1 377 457 1.44e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000009550
SMART Domains Protein: ENSMUSP00000009550
Gene: ENSMUSG00000009406

DomainStartEndE-ValueType
ETS 4 90 7.11e-59 SMART
low complexity region 167 178 N/A INTRINSIC
low complexity region 202 218 N/A INTRINSIC
low complexity region 244 257 N/A INTRINSIC
low complexity region 320 335 N/A INTRINSIC
low complexity region 351 376 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122862
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygotes for targeted null mutations have defects in the alternative complement pathway. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 T A 1: 58,145,184 (GRCm39) probably null Het
Aspm C T 1: 139,410,182 (GRCm39) T1359I probably benign Het
Atp13a2 A G 4: 140,719,509 (GRCm39) D26G probably benign Het
Atrnl1 G A 19: 58,119,536 (GRCm39) A1343T probably damaging Het
Ccsap A C 8: 124,585,969 (GRCm39) S61A probably damaging Het
Cdh1 A T 8: 107,384,485 (GRCm39) M318L probably benign Het
Cfap69 G A 5: 5,696,979 (GRCm39) P106S probably damaging Het
Chst1 A T 2: 92,444,475 (GRCm39) I316F probably damaging Het
Col7a1 A T 9: 108,793,686 (GRCm39) D1382V unknown Het
Cr2 T A 1: 194,845,542 (GRCm39) M514L possibly damaging Het
Cubn G A 2: 13,470,719 (GRCm39) H558Y probably benign Het
Cul9 A T 17: 46,839,572 (GRCm39) M802K probably damaging Het
Dennd2d A T 3: 106,398,542 (GRCm39) I169L probably damaging Het
Dnah11 T A 12: 118,010,991 (GRCm39) K162* probably null Het
Dnah3 T A 7: 119,566,943 (GRCm39) T2428S possibly damaging Het
Dock11 T A X: 35,301,296 (GRCm39) H1284Q probably damaging Het
Flrt2 T A 12: 95,745,966 (GRCm39) D101E probably damaging Het
Gabrr2 G A 4: 33,085,626 (GRCm39) V349M probably damaging Het
Gli2 C A 1: 118,764,621 (GRCm39) V1177L probably benign Het
Gm16506 A G 14: 43,961,630 (GRCm39) Y206H probably benign Het
Gm5612 C T 9: 18,338,869 (GRCm39) probably benign Het
Gvin3 C T 7: 106,202,258 (GRCm39) noncoding transcript Het
Heg1 C T 16: 33,545,936 (GRCm39) T460I possibly damaging Het
Lgals9 T G 11: 78,863,977 (GRCm39) D56A probably damaging Het
Lpgat1 A T 1: 191,508,544 (GRCm39) probably null Het
Megf6 T A 4: 154,337,020 (GRCm39) probably null Het
Megf8 G A 7: 25,059,296 (GRCm39) M2265I probably benign Het
Memo1 G A 17: 74,548,976 (GRCm39) R121* probably null Het
Morc1 T C 16: 48,432,677 (GRCm39) V715A probably benign Het
Mycbp2 A T 14: 103,466,928 (GRCm39) probably null Het
Ncapg2 T A 12: 116,388,270 (GRCm39) V318D possibly damaging Het
Ndst1 T C 18: 60,833,517 (GRCm39) Y498C probably damaging Het
Nod1 C T 6: 54,921,341 (GRCm39) A326T probably damaging Het
Or2ag15 A G 7: 106,340,706 (GRCm39) V145A probably benign Het
Or4c11 T A 2: 88,695,864 (GRCm39) M305K probably benign Het
Peg3 T C 7: 6,710,624 (GRCm39) S1533G probably benign Het
Pgc G T 17: 48,045,165 (GRCm39) G361V probably damaging Het
Phka1 C T X: 101,629,712 (GRCm39) R477H probably damaging Het
Plagl2 C T 2: 153,074,574 (GRCm39) R109Q probably damaging Het
Prr36 T A 8: 4,266,230 (GRCm39) I107F probably benign Het
Ptpdc1 T A 13: 48,740,080 (GRCm39) R450S probably damaging Het
Ptprb A T 10: 116,138,179 (GRCm39) D361V possibly damaging Het
Rbm44 A G 1: 91,096,551 (GRCm39) D970G probably benign Het
Scrn2 T G 11: 96,921,396 (GRCm39) V52G probably benign Het
Sdk1 C T 5: 142,197,875 (GRCm39) T2176I probably benign Het
Serpina1d T A 12: 103,729,993 (GRCm39) E396D probably benign Het
Slc38a5 A C X: 8,146,070 (GRCm39) Q465P probably benign Het
Slc38a5 G T X: 8,146,071 (GRCm39) Q465H probably benign Het
Smarca1 T C X: 46,981,255 (GRCm39) T48A possibly damaging Het
Trak2 A T 1: 58,962,766 (GRCm39) I132N probably damaging Het
Trank1 A G 9: 111,194,117 (GRCm39) T714A probably benign Het
Trank1 T C 9: 111,194,327 (GRCm39) S784P probably benign Het
Trp53i13 G A 11: 77,399,083 (GRCm39) probably benign Het
Trrap A C 5: 144,767,831 (GRCm39) D2596A probably benign Het
Ttyh1 A T 7: 4,127,656 (GRCm39) T19S probably damaging Het
Tyk2 C T 9: 21,020,660 (GRCm39) V947M probably damaging Het
Ugt2b34 G A 5: 87,040,689 (GRCm39) A411V possibly damaging Het
Virma T A 4: 11,518,929 (GRCm39) Y725* probably null Het
Vmn1r192 A G 13: 22,372,079 (GRCm39) L47P probably damaging Het
Vmn2r74 T C 7: 85,610,500 (GRCm39) D64G possibly damaging Het
Other mutations in Cfp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:Cfp APN X 20,794,981 (GRCm39) missense probably damaging 1.00
IGL03343:Cfp APN X 20,794,248 (GRCm39) missense possibly damaging 0.85
R1498:Cfp UTSW X 20,795,905 (GRCm39) frame shift probably null
Posted On 2013-11-05