Incidental Mutation 'R7035:Cfb'
ID 546639
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 045136-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7035 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 35075350-35081492 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35079007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 826 (Y826F)
Ref Sequence ENSEMBL: ENSMUSP00000117677 (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: Y313F

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000025229
Gene: ENSMUSG00000090231
AA Change: Y313F

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: Y311F

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000119977
Gene: ENSMUSG00000090231
AA Change: Y311F

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: Y520F

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 possibly damaging
Transcript: ENSMUST00000146299
AA Change: Y826F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117677
Gene: ENSMUSG00000092511
AA Change: Y826F

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 possibly damaging
Transcript: ENSMUST00000154526
AA Change: Y311F

PolyPhen 2 Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000120990
Gene: ENSMUSG00000090231
AA Change: Y311F

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: Y313F

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000135660
Gene: ENSMUSG00000090231
AA Change: Y313F

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (70/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T A 3: 68,777,272 (GRCm39) F78I probably benign Het
1700102P08Rik A T 9: 108,272,510 (GRCm39) D140V possibly damaging Het
6430548M08Rik A T 8: 120,879,225 (GRCm39) S208C probably damaging Het
Abcd4 G T 12: 84,662,123 (GRCm39) T41K probably damaging Het
Acaca C T 11: 84,129,769 (GRCm39) R375C probably damaging Het
Acad11 T A 9: 103,990,694 (GRCm39) V433D probably damaging Het
Adal T A 2: 120,985,942 (GRCm39) C226S probably benign Het
Aldh3b2 A T 19: 4,028,142 (GRCm39) M95L probably benign Het
Ano4 A G 10: 88,790,573 (GRCm39) F842S probably damaging Het
Ap5s1 T C 2: 131,054,732 (GRCm39) F181S probably damaging Het
Apba1 G A 19: 23,894,931 (GRCm39) D456N possibly damaging Het
Armh4 T A 14: 50,010,507 (GRCm39) H400L possibly damaging Het
Atp6v0a1 A C 11: 100,918,183 (GRCm39) Q199H probably damaging Het
Atp8a1 C G 5: 67,938,373 (GRCm39) G161A probably benign Het
Atxn2 C T 5: 121,949,530 (GRCm39) Q61* probably null Het
Cacna2d1 T A 5: 16,451,670 (GRCm39) I178K probably damaging Het
Catsperb A C 12: 101,381,593 (GRCm39) T92P probably damaging Het
Ccdc175 A G 12: 72,202,419 (GRCm39) I292T probably benign Het
Cep290 T A 10: 100,334,933 (GRCm39) S318T probably benign Het
Cntn1 C A 15: 92,212,392 (GRCm39) D851E probably benign Het
Coq6 A G 12: 84,415,415 (GRCm39) D146G probably damaging Het
Crem G A 18: 3,327,503 (GRCm39) T12I probably damaging Het
Dennd4c G A 4: 86,730,574 (GRCm39) V824I probably damaging Het
Dnase2b C T 3: 146,288,096 (GRCm39) C333Y probably damaging Het
Dop1a T A 9: 86,406,355 (GRCm39) F365I possibly damaging Het
Dysf A T 6: 84,163,374 (GRCm39) I1570F probably benign Het
Eml1 T A 12: 108,475,493 (GRCm39) C275S probably damaging Het
Fam135b A C 15: 71,334,102 (GRCm39) S1031A possibly damaging Het
Gga2 T C 7: 121,588,939 (GRCm39) D596G probably damaging Het
Gin1 A C 1: 97,720,100 (GRCm39) Y365S possibly damaging Het
Gipr T A 7: 18,896,809 (GRCm39) I154F probably damaging Het
Gm5478 A T 15: 101,553,632 (GRCm39) I284N possibly damaging Het
Gnat1 A T 9: 107,553,827 (GRCm39) probably benign Het
Gsdmc A T 15: 63,650,569 (GRCm39) probably null Het
Lama1 T A 17: 68,088,044 (GRCm39) I1554N Het
Mycbp2 T A 14: 103,412,417 (GRCm39) T2519S probably benign Het
Mylk G A 16: 34,797,352 (GRCm39) V1604M possibly damaging Het
Mypop C T 7: 18,725,922 (GRCm39) probably benign Het
Nol6 A T 4: 41,118,479 (GRCm39) V774E probably benign Het
Nol8 T C 13: 49,814,678 (GRCm39) V262A probably benign Het
Npepps A T 11: 97,113,965 (GRCm39) V637D probably damaging Het
Or1e16 T C 11: 73,286,544 (GRCm39) I101M probably benign Het
Or4f52 A G 2: 111,061,784 (GRCm39) M118T probably damaging Het
Or5p52 T C 7: 107,502,140 (GRCm39) V72A probably benign Het
Pcdhgb8 A T 18: 37,896,201 (GRCm39) I424F possibly damaging Het
Phf7 A C 14: 30,961,183 (GRCm39) W231G probably damaging Het
Plagl1 A G 10: 13,003,977 (GRCm39) probably benign Het
Plat A T 8: 23,262,327 (GRCm39) D117V probably benign Het
Prkag2 T C 5: 25,152,564 (GRCm39) Y180C probably damaging Het
Prpf8 T C 11: 75,395,654 (GRCm39) I1927T possibly damaging Het
Ptchd1 T A X: 154,357,708 (GRCm39) Y499F probably damaging Het
Rad17 T A 13: 100,764,133 (GRCm39) D446V possibly damaging Het
Ralgapa2 G T 2: 146,353,777 (GRCm39) Q15K probably damaging Het
Ret A G 6: 118,140,247 (GRCm39) Y982H probably damaging Het
Rnf145 T A 11: 44,452,583 (GRCm39) S521T probably damaging Het
Samd4 G A 14: 47,326,620 (GRCm39) silent Het
Sardh T C 2: 27,120,854 (GRCm39) D390G probably damaging Het
Saxo1 T C 4: 86,363,359 (GRCm39) T375A probably damaging Het
Scly A G 1: 91,236,125 (GRCm39) T126A probably damaging Het
Slc6a16 T A 7: 44,910,251 (GRCm39) V307D probably damaging Het
Sned1 T C 1: 93,189,852 (GRCm39) C320R probably damaging Het
Sspo G A 6: 48,426,147 (GRCm39) probably null Het
Sycp2l C T 13: 41,310,973 (GRCm39) T645I unknown Het
Tpmt T C 13: 47,193,584 (GRCm39) K72E probably damaging Het
Tsbp1 C T 17: 34,679,305 (GRCm39) probably benign Het
Ube2q2l G A 6: 136,378,347 (GRCm39) T161M possibly damaging Het
Vmn1r51 A T 6: 90,106,207 (GRCm39) H41L probably benign Het
Wdfy3 A T 5: 102,003,415 (GRCm39) I2900N probably damaging Het
Zfp663 A G 2: 165,195,023 (GRCm39) S399P probably benign Het
Zfp692 T C 11: 58,200,268 (GRCm39) probably null 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
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
RF005:Cfb UTSW 17 35,077,022 (GRCm39) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- CAGCATTCTCCATTGCCCAAG -3'
(R):5'- AGATCCTTTGGGTCCAGGTC -3'

Sequencing Primer
(F):5'- TTCTCCATTGCCCAAGGAGAC -3'
(R):5'- AGGTCCTGCTGTCCTCCAG -3'
Posted On 2019-05-13