Incidental Mutation 'RF005:Cfb'
ID 602789
Institutional Source Beutler Lab
Gene Symbol Cfb
Ensembl Gene ENSMUSG00000090231
Gene Name complement factor B
Synonyms FB, alternative-complement pathway C3/C5 convertase, B, Factor B, Bf, H2-Bf
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # RF005 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 35075350-35081492 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 35077022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 538 (V538I)
Ref Sequence ENSEMBL: ENSMUSP00000025229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025229] [ENSMUST00000025230] [ENSMUST00000097343] [ENSMUST00000128767] [ENSMUST00000146299] [ENSMUST00000148431] [ENSMUST00000152417] [ENSMUST00000153400] [ENSMUST00000154526] [ENSMUST00000165953] [ENSMUST00000173065] [ENSMUST00000173357] [ENSMUST00000176203]
AlphaFold P04186
Predicted Effect possibly damaging
Transcript: ENSMUST00000025229
AA Change: V538I

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025229
Gene: ENSMUSG00000090231
AA Change: V538I

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
CCP 36 88 5.15e-1 SMART
CCP 102 157 4.62e-15 SMART
CCP 164 217 2.06e-12 SMART
VWA 267 472 1.07e-40 SMART
Tryp_SPc 480 751 2.53e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000025230
SMART Domains Protein: ENSMUSP00000025230
Gene: ENSMUSG00000024371

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Blast:CCP 22 71 8e-24 BLAST
low complexity region 72 83 N/A INTRINSIC
CCP 94 149 1.34e-11 SMART
CCP 156 210 1.89e-11 SMART
Blast:VWA 219 245 1e-7 BLAST
VWA 259 464 1.32e-31 SMART
Tryp_SPc 468 747 4.43e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097343
SMART Domains Protein: ENSMUSP00000094956
Gene: ENSMUSG00000024369

DomainStartEndE-ValueType
coiled coil region 7 36 N/A INTRINSIC
low complexity region 147 167 N/A INTRINSIC
low complexity region 184 239 N/A INTRINSIC
RRM 259 324 7.25e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000128767
AA Change: V536I

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119977
Gene: ENSMUSG00000090231
AA Change: V536I

DomainStartEndE-ValueType
low complexity region 6 21 N/A INTRINSIC
CCP 34 86 5.15e-1 SMART
CCP 100 155 4.62e-15 SMART
CCP 162 215 2.06e-12 SMART
VWA 265 470 1.07e-40 SMART
Tryp_SPc 478 749 2.53e-30 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000120864
Gene: ENSMUSG00000092511
AA Change: V745I

DomainStartEndE-ValueType
Blast:VWA 2 77 8e-7 BLAST
Tryp_SPc 85 365 5.69e-8 SMART
CCP 310 365 4.62e-15 SMART
CCP 372 425 2.06e-12 SMART
VWA 475 680 1.07e-40 SMART
Tryp_SPc 688 959 2.53e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133127
SMART Domains Protein: ENSMUSP00000118360
Gene: ENSMUSG00000090231

DomainStartEndE-ValueType
PDB:2WIN|L 2 43 2e-20 PDB
Blast:VWA 13 44 9e-11 BLAST
Predicted Effect
SMART Domains Protein: ENSMUSP00000118945
Gene: ENSMUSG00000090231
AA Change: V75I

DomainStartEndE-ValueType
Tryp_SPc 18 258 3.76e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146299
AA Change: V1051I

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000117677
Gene: ENSMUSG00000092511
AA Change: V1051I

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 72 83 N/A INTRINSIC
CCP 94 148 1.89e-11 SMART
VWA 103 311 1.74e-1 SMART
Tryp_SPc 315 547 1.49e-7 SMART
CCP 549 601 5.15e-1 SMART
CCP 615 670 4.62e-15 SMART
CCP 677 730 2.06e-12 SMART
VWA 780 985 1.07e-40 SMART
Tryp_SPc 993 1264 2.53e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148431
SMART Domains Protein: ENSMUSP00000120009
Gene: ENSMUSG00000024371

DomainStartEndE-ValueType
VWA 33 187 2.33e0 SMART
Tryp_SPc 191 470 4.43e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152417
SMART Domains Protein: ENSMUSP00000123536
Gene: ENSMUSG00000024371

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
CCP 19 73 1.89e-11 SMART
Blast:VWA 82 108 2e-7 BLAST
VWA 122 327 1.32e-31 SMART
Tryp_SPc 331 610 4.43e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000153400
AA Change: V33I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116497
Gene: ENSMUSG00000090231
AA Change: V33I

DomainStartEndE-ValueType
Tryp_SPc 1 217 2.36e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000154526
AA Change: V536I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000120990
Gene: ENSMUSG00000090231
AA Change: V536I

DomainStartEndE-ValueType
low complexity region 6 21 N/A INTRINSIC
CCP 34 86 5.15e-1 SMART
CCP 100 155 4.62e-15 SMART
CCP 162 215 2.06e-12 SMART
VWA 265 470 1.07e-40 SMART
Tryp_SPc 478 711 5.03e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165953
SMART Domains Protein: ENSMUSP00000131195
Gene: ENSMUSG00000024369

DomainStartEndE-ValueType
coiled coil region 7 36 N/A INTRINSIC
low complexity region 147 167 N/A INTRINSIC
low complexity region 184 239 N/A INTRINSIC
RRM 259 324 7.25e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173065
SMART Domains Protein: ENSMUSP00000133934
Gene: ENSMUSG00000024369

DomainStartEndE-ValueType
coiled coil region 7 36 N/A INTRINSIC
low complexity region 147 167 N/A INTRINSIC
low complexity region 184 228 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173357
SMART Domains Protein: ENSMUSP00000134272
Gene: ENSMUSG00000024369

DomainStartEndE-ValueType
coiled coil region 7 36 N/A INTRINSIC
low complexity region 147 167 N/A INTRINSIC
low complexity region 184 239 N/A INTRINSIC
RRM 259 324 7.25e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000176203
AA Change: V538I

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135660
Gene: ENSMUSG00000090231
AA Change: V538I

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
CCP 36 88 5.15e-1 SMART
CCP 102 157 4.62e-15 SMART
CCP 164 217 2.06e-12 SMART
VWA 267 472 1.07e-40 SMART
Tryp_SPc 480 713 5.03e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176332
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.6%
Validation Efficiency 94% (65/69)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations lack the alternative complement pathway, and have reduced overall complement activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430401F13Rik AGAAAGGAAAAGGTGGCCAG AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG 6: 131,529,847 (GRCm39) probably benign Het
A030005L19Rik CTGCTG CTGCTGTGGATGCTG 1: 82,891,306 (GRCm39) probably benign Het
Abca1 G T 4: 53,049,125 (GRCm39) T1651N probably damaging Het
Adamtsl3 A G 7: 82,261,603 (GRCm39) T40A Het
Adgra3 A T 5: 50,170,729 (GRCm39) probably null Het
Apcs A T 1: 172,721,809 (GRCm39) M179K probably damaging Het
Baiap2 G A 11: 119,887,355 (GRCm39) E217K possibly damaging Het
Bltp3a A T 17: 28,104,505 (GRCm39) D517V probably damaging Het
Ccdc69 A G 11: 54,951,349 (GRCm39) L24P probably damaging Het
Cdh16 T G 8: 105,343,684 (GRCm39) N604T probably damaging Het
Col6a3 A G 1: 90,738,984 (GRCm39) S1022P probably benign Het
Cpeb1 A G 7: 81,011,554 (GRCm39) L129S possibly damaging Het
Crybg1 A G 10: 43,880,741 (GRCm39) V149A probably benign Het
Cyp4f16 C A 17: 32,764,169 (GRCm39) probably null Het
Dlg5 G A 14: 24,208,561 (GRCm39) Q882* probably null Het
Fsip2 T A 2: 82,822,876 (GRCm39) I6203K probably benign Het
Gabre CCGGCT CCGGCTACGGCT X: 71,313,651 (GRCm39) probably null Het
Gprc5d A T 6: 135,093,517 (GRCm39) L130Q probably damaging Het
H13 G A 2: 152,511,589 (GRCm39) E30K probably damaging Het
Hmcn1 T A 1: 150,510,897 (GRCm39) K3609* probably null Het
Hsdl2 GCTGCAG GCTGCAGCAGCAGCCACATCTGCAG 4: 59,610,652 (GRCm39) probably benign Het
Kl A C 5: 150,876,885 (GRCm39) Y235S probably benign Het
Map6d1 G A 16: 20,059,750 (GRCm39) T105I probably benign Het
Mast4 GGTGGTGGTGG GGTGGTGGTGGTGGTGG 13: 102,872,815 (GRCm39) probably benign Het
Mbd1 TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC 18: 74,406,644 (GRCm39) probably benign Het
Mms22l A G 4: 24,517,207 (GRCm39) I363V probably benign Het
Myo7a T C 7: 97,742,824 (GRCm39) I391V probably benign Het
Nab2 A T 10: 127,500,233 (GRCm39) D286E probably benign Het
Nrxn1 G A 17: 90,670,304 (GRCm39) R1144C probably damaging Het
Or51q1 A G 7: 103,628,768 (GRCm39) D123G probably damaging Het
Or52j3 T C 7: 102,835,898 (GRCm39) I30T possibly damaging Het
Or5al5 T C 2: 85,961,414 (GRCm39) M198V probably benign Het
Pan2 G A 10: 128,151,404 (GRCm39) E842K probably benign Het
Pate11 T C 9: 36,386,970 (GRCm39) S13P possibly damaging Het
Polr1has CACCACCACCACCACCACCAC CACCACCACCACCACCACCACAACCACCACCACCACCACCAC 17: 37,275,940 (GRCm39) probably benign Het
Prex2 A C 1: 11,255,390 (GRCm39) D1145A possibly damaging Het
Prop1 A C 11: 50,841,957 (GRCm39) Y150D possibly damaging Het
Prp2 AGGCCCACAGCAGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC AGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC 6: 132,577,464 (GRCm39) probably benign Het
Psip1 T C 4: 83,378,735 (GRCm39) I353M probably damaging Het
Rapgef1 C A 2: 29,597,207 (GRCm39) probably null Het
Rgl1 G A 1: 152,397,114 (GRCm39) S684L probably benign Het
Sbf2 T A 7: 109,916,215 (GRCm39) D1552V probably damaging Het
Scpppq1 A C 5: 104,222,725 (GRCm39) probably null Het
Serpinh1 C T 7: 98,995,410 (GRCm39) V391M probably damaging Het
Slc35e4 A T 11: 3,857,960 (GRCm39) L215Q possibly damaging Het
Tbl3 TCTT TCTTCTT 17: 24,921,515 (GRCm39) probably benign Het
Tex15 T A 8: 34,066,705 (GRCm39) M2045K probably benign Het
Tmprss15 T C 16: 78,750,689 (GRCm39) *1070W probably null Het
Trav15-2-dv6-2 GAA GAACAA 14: 53,887,211 (GRCm39) probably benign Het
Trav15-2-dv6-2 GGGAG GGGAGGAG 14: 53,887,207 (GRCm39) probably benign Het
Trav15-2-dv6-2 GGAG GGAGGAG 14: 53,887,208 (GRCm39) probably benign Het
Trim33 GCCCCGGCCCCCG GCCCCG 3: 103,187,528 (GRCm39) probably null Het
Triobp GACAA GACAACCCCAGGACTCCCTGTGCCCAACGGAACAA 15: 78,851,261 (GRCm39) probably benign Het
Tub C A 7: 108,621,846 (GRCm39) Q95K probably benign Het
Usp9y T A Y: 1,435,046 (GRCm39) Q261L probably benign Het
Utp20 A T 10: 88,661,319 (GRCm39) D29E probably damaging Het
Vill G A 9: 118,889,507 (GRCm39) V148M probably damaging Het
Vmn2r120 C T 17: 57,828,991 (GRCm39) E535K possibly damaging Het
Zfp451 A T 1: 33,815,873 (GRCm39) Y692* probably null Het
Zfp599 A C 9: 22,165,180 (GRCm39) V65G probably benign Het
Zfp808 T C 13: 62,319,113 (GRCm39) V114A probably benign Het
Other mutations in Cfb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0270:Cfb UTSW 17 35,079,362 (GRCm39) missense possibly damaging 0.92
R0419:Cfb UTSW 17 35,077,485 (GRCm39) missense probably damaging 1.00
R0514:Cfb UTSW 17 35,079,874 (GRCm39) missense probably damaging 1.00
R0645:Cfb UTSW 17 35,078,992 (GRCm39) missense probably benign 0.25
R0668:Cfb UTSW 17 35,076,079 (GRCm39) missense probably benign 0.29
R0893:Cfb UTSW 17 35,077,031 (GRCm39) missense probably damaging 1.00
R1879:Cfb UTSW 17 35,079,536 (GRCm39) missense probably benign 0.11
R2135:Cfb UTSW 17 35,076,254 (GRCm39) missense possibly damaging 0.84
R3107:Cfb UTSW 17 35,080,800 (GRCm39) missense possibly damaging 0.88
R4291:Cfb UTSW 17 35,080,114 (GRCm39) missense possibly damaging 0.95
R4369:Cfb UTSW 17 35,079,290 (GRCm39) missense probably damaging 1.00
R4371:Cfb UTSW 17 35,079,290 (GRCm39) missense probably damaging 1.00
R4616:Cfb UTSW 17 35,078,044 (GRCm39) missense probably benign 0.29
R5177:Cfb UTSW 17 35,078,002 (GRCm39) missense probably damaging 1.00
R5689:Cfb UTSW 17 35,080,770 (GRCm39) missense probably benign 0.00
R5773:Cfb UTSW 17 35,076,248 (GRCm39) nonsense probably null
R6046:Cfb UTSW 17 35,081,078 (GRCm39) splice site probably null
R6274:Cfb UTSW 17 35,081,069 (GRCm39) missense probably benign 0.18
R6318:Cfb UTSW 17 35,080,800 (GRCm39) missense possibly damaging 0.88
R7035:Cfb UTSW 17 35,079,007 (GRCm39) missense possibly damaging 0.53
R7585:Cfb UTSW 17 35,076,737 (GRCm39) missense probably benign 0.00
R7920:Cfb UTSW 17 35,079,867 (GRCm39) missense probably benign 0.00
R8312:Cfb UTSW 17 35,077,121 (GRCm39) missense probably benign 0.11
R8465:Cfb UTSW 17 35,076,290 (GRCm39) nonsense probably null
R9452:Cfb UTSW 17 35,078,084 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTTATGGAAGCAGCCTCCTG -3'
(R):5'- AGCATTCGTGCAGTGGGTAC -3'

Sequencing Primer
(F):5'- CAGCCTCCTGCCTCTGG -3'
(R):5'- ACATACATGCTGGTGCCCTG -3'
Posted On 2019-12-04