Incidental Mutation 'R2135:Cfb'
ID 235760
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 040138-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2135 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 35075350-35081492 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 35076254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 1145 (V1145I)
Ref Sequence ENSEMBL: ENSMUSP00000117677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025229] [ENSMUST00000097343] [ENSMUST00000128767] [ENSMUST00000146299] [ENSMUST00000153400] [ENSMUST00000154526] [ENSMUST00000176203] [ENSMUST00000165953] [ENSMUST00000173357] [ENSMUST00000173065]
AlphaFold P04186
Predicted Effect probably benign
Transcript: ENSMUST00000025229
AA Change: V632I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000025229
Gene: ENSMUSG00000090231
AA Change: V632I

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: 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: V630I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000119977
Gene: ENSMUSG00000090231
AA Change: V630I

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 unknown
Transcript: ENSMUST00000129891
AA Change: V839I
SMART Domains Protein: ENSMUSP00000120864
Gene: ENSMUSG00000092511
AA Change: V839I

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 unknown
Transcript: ENSMUST00000141295
AA Change: V169I
SMART Domains Protein: ENSMUSP00000118945
Gene: ENSMUSG00000090231
AA Change: V169I

DomainStartEndE-ValueType
Tryp_SPc 18 258 3.76e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000146299
AA Change: V1145I

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117677
Gene: ENSMUSG00000092511
AA Change: V1145I

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: ENSMUST00000153400
AA Change: V127I

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000116497
Gene: ENSMUSG00000090231
AA Change: V127I

DomainStartEndE-ValueType
Tryp_SPc 1 217 2.36e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154526
AA Change: V630I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000120990
Gene: ENSMUSG00000090231
AA Change: V630I

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: ENSMUST00000176203
AA Change: V632I

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000135660
Gene: ENSMUSG00000090231
AA Change: V632I

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 unknown
Transcript: ENSMUST00000176332
AA Change: V164I
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184774
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174075
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173775
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174888
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: 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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,885,509 (GRCm39) H116Q probably benign Het
Adamts16 C A 13: 70,949,126 (GRCm39) L178F probably damaging Het
Adgrv1 A G 13: 81,672,676 (GRCm39) probably null Het
Akap9 A G 5: 4,114,509 (GRCm39) T46A probably damaging Het
Ankrd2 T C 19: 42,032,498 (GRCm39) L253P probably damaging Het
Arap3 T C 18: 38,107,509 (GRCm39) D1336G probably damaging Het
Cacna2d2 C A 9: 107,403,712 (GRCm39) L992I possibly damaging Het
Cdhr2 T A 13: 54,868,760 (GRCm39) I574N probably damaging Het
Cecr2 C T 6: 120,697,923 (GRCm39) T74M probably damaging Het
Ces5a C A 8: 94,226,369 (GRCm39) E481D probably benign Het
Cfap74 C G 4: 155,514,397 (GRCm39) N544K probably damaging Het
Cfap74 T A 4: 155,514,408 (GRCm39) L548Q probably damaging Het
CK137956 A G 4: 127,845,433 (GRCm39) probably benign Het
Commd10 T A 18: 47,123,604 (GRCm39) L153Q possibly damaging Het
Cox6c T C 15: 35,937,429 (GRCm39) probably benign Het
Dock4 A G 12: 40,795,667 (GRCm39) Y828C probably benign Het
Ermp1 T C 19: 29,623,465 (GRCm39) D119G possibly damaging Het
Ext1 G T 15: 52,965,140 (GRCm39) Q409K possibly damaging Het
Fat4 A T 3: 39,034,882 (GRCm39) I2845F probably damaging Het
Frmd6 A G 12: 70,941,771 (GRCm39) N494S probably benign Het
Fscn3 A G 6: 28,431,583 (GRCm39) T305A probably benign Het
Gbx1 G T 5: 24,731,220 (GRCm39) R199S possibly damaging Het
Gm11437 T C 11: 84,044,638 (GRCm39) R192G probably damaging Het
Gucy2c T A 6: 136,700,726 (GRCm39) D572V probably damaging Het
Idh1 A C 1: 65,201,078 (GRCm39) M291R probably damaging Het
Kcnt2 A G 1: 140,356,551 (GRCm39) Y330C probably damaging Het
Kdm4a A G 4: 117,999,656 (GRCm39) L922P probably damaging Het
L3mbtl2 A G 15: 81,566,215 (GRCm39) D346G possibly damaging Het
Lsm14a A G 7: 34,070,609 (GRCm39) S96P probably damaging Het
Ltn1 A G 16: 87,179,601 (GRCm39) L1520P probably damaging Het
Marchf6 A T 15: 31,509,910 (GRCm39) C26* probably null Het
Msra G A 14: 64,360,657 (GRCm39) P228L probably damaging Het
Mycbp2 A T 14: 103,383,378 (GRCm39) D395E probably benign Het
Mycbp2 T C 14: 103,446,329 (GRCm39) Y1800C probably damaging Het
Ncr1 C A 7: 4,343,756 (GRCm39) probably benign Het
Nkd1 T C 8: 89,318,278 (GRCm39) I201T probably benign Het
Nsrp1 A T 11: 76,945,834 (GRCm39) probably benign Het
Or2t48 A C 11: 58,420,611 (GRCm39) I67S probably damaging Het
Or7e177 T A 9: 20,211,593 (GRCm39) D32E probably benign Het
Pate5 A C 9: 35,750,479 (GRCm39) probably null Het
Pkdrej T C 15: 85,700,707 (GRCm39) Y1743C probably damaging Het
Plekha5 T A 6: 140,526,225 (GRCm39) H281Q possibly damaging Het
Ppp2r3d A C 9: 101,088,757 (GRCm39) M522R probably damaging Het
Prdm12 T C 2: 31,530,325 (GRCm39) F72S possibly damaging Het
Prima1 A T 12: 103,168,949 (GRCm39) F106L probably damaging Het
Ptchd4 A G 17: 42,627,965 (GRCm39) H142R probably benign Het
Rasgrf2 G A 13: 92,120,374 (GRCm39) A793V probably benign Het
Rbsn T A 6: 92,166,854 (GRCm39) M597L probably benign Het
Ripk4 A T 16: 97,544,933 (GRCm39) D571E probably damaging Het
Rp9 T C 9: 22,379,425 (GRCm39) K25E possibly damaging Het
Sec31b T C 19: 44,523,135 (GRCm39) S211G probably damaging Het
Shank2 C T 7: 143,964,971 (GRCm39) P1070S probably damaging Het
Sla A G 15: 66,654,563 (GRCm39) V241A probably benign Het
Slc25a40 A G 5: 8,477,489 (GRCm39) T25A possibly damaging Het
Slc3a2 A G 19: 8,685,608 (GRCm39) S164P probably benign Het
Slc7a5 A T 8: 122,610,444 (GRCm39) W457R probably null Het
Slco6c1 A G 1: 97,032,542 (GRCm39) M303T probably benign Het
Smim10l1 T C 6: 133,082,489 (GRCm39) F12S probably damaging Het
Syne2 A G 12: 75,999,560 (GRCm39) I2318V probably damaging Het
Tecta A C 9: 42,251,581 (GRCm39) C1781G probably damaging Het
Timmdc1 A T 16: 38,319,313 (GRCm39) H280Q probably benign Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tmem30b A G 12: 73,592,107 (GRCm39) L336P probably damaging Het
Tmem94 A G 11: 115,685,575 (GRCm39) I943V probably benign Het
Tshb A G 3: 102,685,464 (GRCm39) probably null Het
Vcpip1 A G 1: 9,818,035 (GRCm39) V116A probably benign Het
Vmn2r76 A G 7: 85,880,219 (GRCm39) Y156H probably benign Het
Zcrb1 T C 15: 93,295,067 (GRCm39) N23S probably damaging Het
Zfyve26 T C 12: 79,292,826 (GRCm39) R2108G possibly damaging 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
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
RF005:Cfb UTSW 17 35,077,022 (GRCm39) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- TTGACCTTCTCATAGCCTTGGG -3'
(R):5'- AGCACAGTAAGGCATAGTCTG -3'

Sequencing Primer
(F):5'- GCCTTGGGCCTTTGTAGCATC -3'
(R):5'- CAGTAAGGCATAGTCTGGGATAAGAC -3'
Posted On 2014-10-01