Incidental Mutation 'R9452:Cfb'
ID 714360
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
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9452 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 35075350-35081492 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 35078084 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 436 (V436L)
Ref Sequence ENSEMBL: ENSMUSP00000025229 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025229] [ENSMUST00000025230] [ENSMUST00000097343] [ENSMUST00000128767] [ENSMUST00000146299] [ENSMUST00000148431] [ENSMUST00000152417] [ENSMUST00000153400] [ENSMUST00000154526] [ENSMUST00000165953] [ENSMUST00000173357] [ENSMUST00000176203]
AlphaFold P04186
Predicted Effect probably benign
Transcript: ENSMUST00000025229
AA Change: V436L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025229
Gene: ENSMUSG00000090231
AA Change: V436L

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 probably benign
Transcript: ENSMUST00000128767
AA Change: V434L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119977
Gene: ENSMUSG00000090231
AA Change: V434L

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: V643L

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 probably benign
Transcript: ENSMUST00000134300
SMART Domains Protein: ENSMUSP00000114241
Gene: ENSMUSG00000024371

DomainStartEndE-ValueType
Tryp_SPc 3 148 6.48e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141295
SMART Domains Protein: ENSMUSP00000118945
Gene: ENSMUSG00000090231

DomainStartEndE-ValueType
Tryp_SPc 18 258 3.76e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146299
AA Change: V949L

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000117677
Gene: ENSMUSG00000092511
AA Change: V949L

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 benign
Transcript: ENSMUST00000153400
SMART Domains Protein: ENSMUSP00000116497
Gene: ENSMUSG00000090231

DomainStartEndE-ValueType
Tryp_SPc 1 217 2.36e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154526
AA Change: V434L

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000120990
Gene: ENSMUSG00000090231
AA Change: V434L

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: 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 probably benign
Transcript: ENSMUST00000176203
AA Change: V436L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135660
Gene: ENSMUSG00000090231
AA Change: V436L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 A G 5: 24,612,382 (GRCm39) Y564C probably null Het
Ablim2 A T 5: 36,015,198 (GRCm39) D470V probably benign Het
Actr10 T C 12: 71,006,818 (GRCm39) probably null Het
Adam4 T A 12: 81,467,071 (GRCm39) I517L probably benign Het
Ank1 C A 8: 23,622,429 (GRCm39) D1659E probably benign Het
Arnt2 A G 7: 83,933,334 (GRCm39) V308A probably benign Het
Avl9 T C 6: 56,706,726 (GRCm39) V184A probably damaging Het
Bag1 A T 4: 40,947,733 (GRCm39) I157N probably benign Het
Bicc1 A T 10: 70,792,981 (GRCm39) D224E probably damaging Het
C2 T G 17: 35,095,319 (GRCm39) I209L probably benign Het
Cacna1e A T 1: 154,289,720 (GRCm39) probably null Het
Capn1 T C 19: 6,057,287 (GRCm39) Y387C probably damaging Het
Cebpa A G 7: 34,819,033 (GRCm39) I64V possibly damaging Het
Celf4 T G 18: 25,624,219 (GRCm39) M436L probably benign Het
Ciart C T 3: 95,788,527 (GRCm39) C104Y probably benign Het
Cmya5 A G 13: 93,232,394 (GRCm39) L898P probably benign Het
Cyp2c68 A T 19: 39,687,833 (GRCm39) M388K possibly damaging Het
Cypt12 T C 3: 18,002,843 (GRCm39) V72A probably benign Het
Dlec1 A G 9: 118,941,541 (GRCm39) D309G probably benign Het
Dnah1 A G 14: 31,018,448 (GRCm39) V1394A probably benign Het
Dpp3 A C 19: 4,973,750 (GRCm39) S108A probably benign Het
Eif5b C T 1: 38,084,861 (GRCm39) P903S probably damaging Het
Erc2 A G 14: 27,733,690 (GRCm39) D580G probably damaging Het
Fam98c A G 7: 28,852,901 (GRCm39) V44A probably benign Het
Fer A G 17: 64,231,067 (GRCm39) K273E probably benign Het
Gzme T A 14: 56,355,854 (GRCm39) I153F probably benign Het
Ice1 A T 13: 70,744,462 (GRCm39) N2040K probably damaging Het
Ifi214 G T 1: 173,356,894 (GRCm39) Q70K possibly damaging Het
Itpripl1 C A 2: 126,983,334 (GRCm39) E263* probably null Het
Kat8 A G 7: 127,524,421 (GRCm39) K433R probably benign Het
Klra5 C A 6: 129,883,686 (GRCm39) W147L possibly damaging Het
Lefty1 A T 1: 180,762,849 (GRCm39) T59S probably benign Het
Lig3 C T 11: 82,681,448 (GRCm39) T481M probably damaging Het
Lrfn1 A T 7: 28,159,157 (GRCm39) I359F probably damaging Het
Lrp1b A T 2: 41,850,726 (GRCm39) C90* probably null Het
Micall2 T G 5: 139,703,311 (GRCm39) probably null Het
Mtmr3 G T 11: 4,441,037 (GRCm39) L539I probably damaging Het
Obscn C A 11: 58,924,962 (GRCm39) probably null Het
Olfml3 T C 3: 103,643,575 (GRCm39) T269A probably benign Het
Oprl1 C T 2: 181,360,454 (GRCm39) A170V possibly damaging Het
Or4c112 C T 2: 88,854,234 (GRCm39) G38R Het
Pdgfrb G A 18: 61,198,798 (GRCm39) V319M possibly damaging Het
Pirb G A 7: 3,720,617 (GRCm39) R294C possibly damaging Het
Piwil1 T C 5: 128,824,957 (GRCm39) S552P probably benign Het
Pkd2 T C 5: 104,614,841 (GRCm39) F228L probably damaging Het
Pkhd1 T A 1: 20,682,953 (GRCm39) D83V possibly damaging Het
Plcl1 A G 1: 55,734,992 (GRCm39) D111G probably damaging Het
Plpp2 A G 10: 79,363,702 (GRCm39) S162P probably damaging Het
Prex2 T A 1: 11,256,151 (GRCm39) I1174K probably benign Het
Prkdc T A 16: 15,485,465 (GRCm39) Y431N possibly damaging Het
Pter A G 2: 12,985,111 (GRCm39) D147G probably benign Het
Rbsn T C 6: 92,178,745 (GRCm39) D134G possibly damaging Het
Rnf220 T C 4: 117,153,339 (GRCm39) D299G probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,133 (GRCm39) probably benign Het
Scn2a G A 2: 65,595,163 (GRCm39) S2004N probably benign Het
Slc7a4 T A 16: 17,391,271 (GRCm39) N593I probably damaging Het
Spata31e3 T C 13: 50,400,808 (GRCm39) H506R possibly damaging Het
Speg T C 1: 75,399,152 (GRCm39) S2200P probably benign Het
Thoc2l T A 5: 104,669,610 (GRCm39) N1377K probably benign Het
Tle1 A T 4: 72,040,596 (GRCm39) H654Q probably benign Het
Ttll6 G A 11: 96,026,588 (GRCm39) R124H probably damaging Het
Vmn2r111 A G 17: 22,778,132 (GRCm39) C516R probably damaging Het
Vmn2r89 T C 14: 51,693,288 (GRCm39) S213P probably damaging Het
Vmn2r-ps158 A T 7: 42,697,257 (GRCm39) L771F possibly damaging Het
Washc4 A G 10: 83,396,387 (GRCm39) N399S probably benign Het
Wdr37 G A 13: 8,897,663 (GRCm39) H198Y Het
Zfp407 A G 18: 84,580,579 (GRCm39) L178P probably benign Het
Zfp882 C T 8: 72,668,831 (GRCm39) H553Y probably damaging Het
Zfp956 T C 6: 47,940,370 (GRCm39) V243A 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
RF005:Cfb UTSW 17 35,077,022 (GRCm39) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- CGAGCCTTCCAGGTTTTGATG -3'
(R):5'- TTGCACAACATGGGTGGAAAC -3'

Sequencing Primer
(F):5'- CCTTCCAGGTTTTGATGGCTTTG -3'
(R):5'- TGTCATTCAGGACATCCGAG -3'
Posted On 2022-06-15