Mutagenetix > Incidental Mutation

Incidental Mutation 'R0270:Cfb'

35268

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

038496-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0270 (G1)

Quality Score

181

Status

Validated

Chromosome

Chromosomal Location

35075350-35081492 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35079362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 778 (S778L)

Ref Sequence

ENSEMBL: ENSMUSP00000117677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025229] [ENSMUST00000025230] [ENSMUST00000097343] [ENSMUST00000128767] [ENSMUST00000146299] [ENSMUST00000154526] [ENSMUST00000176203] [ENSMUST00000152417] [ENSMUST00000173357] [ENSMUST00000165953] [ENSMUST00000153400] [ENSMUST00000148431]

AlphaFold

P04186

Predicted Effect

probably benign
Transcript: ENSMUST00000025229
AA Change: S265L

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000025229
Gene: ENSMUSG00000090231
AA Change: S265L

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000127795

Predicted Effect

probably benign
Transcript: ENSMUST00000128767
AA Change: S263L

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000119977
Gene: ENSMUSG00000090231
AA Change: S263L

Domain	Start	End	E-Value	Type
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: S472L

SMART Domains

Protein: ENSMUSP00000120864
Gene: ENSMUSG00000092511
AA Change: S472L

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
PDB:2WIN\|L	2	43	2e-20	PDB
Blast:VWA	13	44	9e-11	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146299
AA Change: S778L

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117677
Gene: ENSMUSG00000092511
AA Change: S778L

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000154526
AA Change: S263L

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120990
Gene: ENSMUSG00000090231
AA Change: S263L

Domain	Start	End	E-Value	Type
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: S265L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000135660
Gene: ENSMUSG00000090231
AA Change: S265L

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000184774

Predicted Effect

probably benign
Transcript: ENSMUST00000152417

SMART Domains

Protein: ENSMUSP00000123536
Gene: ENSMUSG00000024371

Domain	Start	End	E-Value	Type
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: ENSMUST00000173357

SMART Domains

Protein: ENSMUSP00000134272
Gene: ENSMUSG00000024369

Domain	Start	End	E-Value	Type
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: ENSMUST00000165953

SMART Domains

Protein: ENSMUSP00000131195
Gene: ENSMUSG00000024369

Domain	Start	End	E-Value	Type
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: ENSMUST00000153400

SMART Domains

Protein: ENSMUSP00000116497
Gene: ENSMUSG00000090231

Domain	Start	End	E-Value	Type
Tryp_SPc	1	217	2.36e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134300

SMART Domains

Protein: ENSMUSP00000114241
Gene: ENSMUSG00000024371

Domain	Start	End	E-Value	Type
Tryp_SPc	3	148	6.48e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176332

Predicted Effect

probably benign
Transcript: ENSMUST00000141295

SMART Domains

Protein: ENSMUSP00000118945
Gene: ENSMUSG00000090231

Domain	Start	End	E-Value	Type
Tryp_SPc	18	258	3.76e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148431

SMART Domains

Protein: ENSMUSP00000120009
Gene: ENSMUSG00000024371

Domain	Start	End	E-Value	Type
VWA	33	187	2.33e0	SMART
Tryp_SPc	191	470	4.43e-26	SMART

Meta Mutation Damage Score

0.2114

Coding Region Coverage

1x: 98.7%
3x: 97.7%
10x: 96.0%
20x: 93.2%

Validation Efficiency

99% (113/114)

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	A	1: 120,093,906 (GRCm39)		probably benign	Het
Aadacl2fm3	T	A	3: 59,784,440 (GRCm39)	N304K	probably benign	Het
Abcf3	T	A	16: 20,378,918 (GRCm39)		probably null	Het
Acadm	C	T	3: 153,641,961 (GRCm39)	M190I	possibly damaging	Het
Adamtsl3	G	A	7: 82,206,032 (GRCm39)	R739Q	probably damaging	Het
Ank1	T	A	8: 23,578,941 (GRCm39)		probably benign	Het
Ap3b1	T	A	13: 94,540,626 (GRCm39)		probably benign	Het
Arhgdib	A	G	6: 136,903,732 (GRCm39)	V31A	probably damaging	Het
Arid4a	A	G	12: 71,119,406 (GRCm39)	R342G	probably damaging	Het
Asic3	C	T	5: 24,622,700 (GRCm39)	L517F	probably benign	Het
Atxn7l1	C	T	12: 33,392,150 (GRCm39)	P242L	possibly damaging	Het
AY761185	T	A	8: 21,434,616 (GRCm39)	E37D	possibly damaging	Het
Babam1	T	A	8: 71,851,050 (GRCm39)	D104E	probably damaging	Het
Batf	A	T	12: 85,755,446 (GRCm39)	T100S	probably benign	Het
Blcap	A	T	2: 157,399,897 (GRCm39)	Y59*	probably null	Het
Cacnb3	G	A	15: 98,540,440 (GRCm39)	A350T	probably damaging	Het
Cdk15	T	A	1: 59,349,965 (GRCm39)	V319D	probably damaging	Het
Cenpf	T	C	1: 189,382,911 (GRCm39)	H2661R	probably benign	Het
Cenpq	T	C	17: 41,240,941 (GRCm39)	E106G	probably damaging	Het
Cfap43	A	G	19: 47,785,642 (GRCm39)		probably benign	Het
Clec2m	A	T	6: 129,302,571 (GRCm39)	L152*	probably null	Het
Clspn	T	A	4: 126,467,029 (GRCm39)	N631K	probably damaging	Het
Cntn2	T	A	1: 132,449,462 (GRCm39)	T660S	probably damaging	Het
Cntrob	T	A	11: 69,202,167 (GRCm39)	H475L	possibly damaging	Het
Ddx46	T	C	13: 55,821,917 (GRCm39)	I863T	probably benign	Het
Dnah11	G	A	12: 118,004,748 (GRCm39)	T2191I	probably damaging	Het
Dock9	T	C	14: 121,813,411 (GRCm39)	T1703A	probably benign	Het
Fam13c	C	T	10: 70,380,343 (GRCm39)	P424S	probably benign	Het
Fan1	T	C	7: 63,998,619 (GRCm39)	N968D	probably benign	Het
Fbxl20	A	T	11: 97,989,329 (GRCm39)		probably benign	Het
Fkbp1b	A	T	12: 4,888,229 (GRCm39)		probably benign	Het
G930045G22Rik	T	A	6: 50,824,039 (GRCm39)		noncoding transcript	Het
Gm28042	C	A	2: 119,872,073 (GRCm39)	R1008S	probably benign	Het
Gon4l	G	A	3: 88,765,707 (GRCm39)	S376N	probably damaging	Het
Gstt3	C	A	10: 75,616,749 (GRCm39)	R15L	probably damaging	Het
Gtdc1	A	T	2: 44,642,186 (GRCm39)	S73T	possibly damaging	Het
Hhatl	A	G	9: 121,613,786 (GRCm39)	S419P	probably benign	Het
Hirip3	T	G	7: 126,462,363 (GRCm39)	S46R	probably damaging	Het
Hsf2	A	G	10: 57,378,735 (GRCm39)	T204A	probably benign	Het
Impg2	G	A	16: 56,089,378 (GRCm39)	E1108K	possibly damaging	Het
Itgb2l	G	T	16: 96,224,130 (GRCm39)		probably benign	Het
Itih5	A	T	2: 10,256,075 (GRCm39)	N847I	probably benign	Het
Kif1a	T	C	1: 92,982,164 (GRCm39)		probably benign	Het
Klhl1	T	A	14: 96,755,780 (GRCm39)		probably benign	Het
Ktn1	T	A	14: 47,952,119 (GRCm39)	D963E	probably benign	Het
Lclat1	T	A	17: 73,547,022 (GRCm39)	V313E	probably benign	Het
Lrrn4	T	C	2: 132,712,639 (GRCm39)	S395G	probably benign	Het
Macroh2a1	G	A	13: 56,243,927 (GRCm39)		probably benign	Het
Mbtps1	G	A	8: 120,264,856 (GRCm39)		probably benign	Het
Me1	A	G	9: 86,478,257 (GRCm39)		probably benign	Het
Mov10	C	A	3: 104,702,721 (GRCm39)	C948F	probably benign	Het
Mterf1a	G	A	5: 3,940,990 (GRCm39)	Q293*	probably null	Het
Nfkb2	A	T	19: 46,300,065 (GRCm39)	M838L	possibly damaging	Het
Nhlrc2	T	A	19: 56,540,302 (GRCm39)	L97Q	probably damaging	Het
Nr6a1	A	T	2: 38,629,032 (GRCm39)	Y331N	possibly damaging	Het
Nup214	C	T	2: 31,924,826 (GRCm39)	A1785V	probably damaging	Het
Ogg1	C	T	6: 113,306,217 (GRCm39)	T138I	probably benign	Het
Or5ac20	A	G	16: 59,104,116 (GRCm39)	V248A	probably damaging	Het
Or5b107	A	G	19: 13,143,251 (GRCm39)	Y291C	probably damaging	Het
Or5b124	A	G	19: 13,611,048 (GRCm39)	Y191C	probably damaging	Het
Or7g17	T	A	9: 18,768,127 (GRCm39)	Y60N	probably damaging	Het
Plod2	G	T	9: 92,466,574 (GRCm39)	R178L	probably benign	Het
Polr3b	T	A	10: 84,554,339 (GRCm39)	L1017Q	probably benign	Het
Postn	C	A	3: 54,291,971 (GRCm39)	T724N	probably damaging	Het
Ppm1l	T	G	3: 69,225,309 (GRCm39)		probably benign	Het
Prpf8	T	G	11: 75,396,075 (GRCm39)	L1983R	probably damaging	Het
Psma7	A	G	2: 179,681,193 (GRCm39)	V59A	probably benign	Het
Qser1	T	A	2: 104,619,306 (GRCm39)	Y502F	probably benign	Het
Rad50	T	C	11: 53,558,852 (GRCm39)	D1129G	probably damaging	Het
Rasal1	C	A	5: 120,812,794 (GRCm39)	P606Q	probably damaging	Het
Rgs6	A	G	12: 83,180,463 (GRCm39)	Y438C	probably damaging	Het
Rnf180	A	G	13: 105,388,774 (GRCm39)	C73R	probably benign	Het
Rnf216	T	A	5: 143,065,996 (GRCm39)	I474F	possibly damaging	Het
Sdha	A	T	13: 74,480,366 (GRCm39)	L371Q	probably damaging	Het
Sdk1	T	G	5: 142,070,321 (GRCm39)	L1162R	possibly damaging	Het
Sh3rf2	T	C	18: 42,237,146 (GRCm39)	I223T	probably damaging	Het
Sirpb1a	A	G	3: 15,475,587 (GRCm39)	V316A	probably damaging	Het
Slc12a4	A	T	8: 106,672,021 (GRCm39)	I897N	probably benign	Het
Slc35d1	A	T	4: 103,048,035 (GRCm39)	V243E	probably damaging	Het
Slc4a11	T	A	2: 130,532,852 (GRCm39)	K200N	possibly damaging	Het
Slc9a8	T	A	2: 167,293,216 (GRCm39)	M188K	probably damaging	Het
Slco1a8	T	A	6: 141,918,137 (GRCm39)	I580F	possibly damaging	Het
Snrnp200	T	C	2: 127,074,902 (GRCm39)	S1492P	probably damaging	Het
Sphk2	T	C	7: 45,360,149 (GRCm39)	*618W	probably null	Het
Sytl2	T	C	7: 90,052,228 (GRCm39)		probably benign	Het
Tdpoz3	A	G	3: 93,734,231 (GRCm39)	N302S	probably benign	Het
Tdrd6	T	C	17: 43,935,199 (GRCm39)	M1950V	probably benign	Het
Tmem39a	A	G	16: 38,384,675 (GRCm39)		probably benign	Het
Trip4	A	T	9: 65,765,640 (GRCm39)	I353K	probably damaging	Het
Trip6	A	T	5: 137,311,103 (GRCm39)	F204L	probably benign	Het
Trpm4	T	A	7: 44,968,677 (GRCm39)	I419F	possibly damaging	Het
Ttn	C	A	2: 76,775,140 (GRCm39)	E1967D	probably damaging	Het
Uba2	C	T	7: 33,850,281 (GRCm39)	V391M	possibly damaging	Het
Ubr4	T	G	4: 139,206,746 (GRCm39)		probably benign	Het
Upf1	G	A	8: 70,788,295 (GRCm39)		probably benign	Het
Vmn1r228	A	C	17: 20,996,858 (GRCm39)	V220G	possibly damaging	Het
Vmn2r79	A	G	7: 86,652,594 (GRCm39)	M429V	probably benign	Het
Vps36	C	T	8: 22,700,472 (GRCm39)	T210I	possibly damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Ybx1	C	T	4: 119,138,788 (GRCm39)	G126D	probably benign	Het
Yipf5	C	A	18: 40,339,460 (GRCm39)		probably benign	Het
Zbtb47	A	G	9: 121,596,641 (GRCm39)	T666A	probably benign	Het
Zdhhc5	A	C	2: 84,520,459 (GRCm39)	S573A	probably benign	Het
Zfp457	A	T	13: 67,441,991 (GRCm39)	C99S	probably damaging	Het
Zfp52	T	A	17: 21,781,564 (GRCm39)	C471S	probably damaging	Het
Zfp558	C	T	9: 18,379,252 (GRCm39)	V71I	probably damaging	Het
Zfp655	A	G	5: 145,181,267 (GRCm39)	Y375C	probably damaging	Het
Zfp882	A	T	8: 72,668,459 (GRCm39)	T429S	probably benign	Het
Zmym2	T	C	14: 57,187,141 (GRCm39)		probably null	Het

Other mutations in Cfb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
RF005:Cfb	UTSW	17	35,077,022 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- AAAACCAGTGTGGTGGGTAGTCAAC -3'
(R):5'- GGCACAGCCCAGGTTAGAATACAAG -3'

Sequencing Primer
(F):5'- GGTAGTCAACACTCCTGTTGAGAC -3'
(R):5'- CCAGGTTAGAATACAAGGAGGG -3'

Posted On

2013-05-09