Mutagenetix > Incidental Mutation

Incidental Mutation 'R4371:Cfb'

326013

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

041117-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35075350-35081492 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35079290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 287 (K287R)

Ref Sequence

ENSEMBL: ENSMUSP00000120990 (fasta)

Gene Model

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

AlphaFold

P04186

Predicted Effect

probably damaging
Transcript: ENSMUST00000025229
AA Change: K289R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025229
Gene: ENSMUSG00000090231
AA Change: K289R

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 damaging
Transcript: ENSMUST00000128767
AA Change: K287R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119977
Gene: ENSMUSG00000090231
AA Change: K287R

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: K496R

SMART Domains

Protein: ENSMUSP00000120864
Gene: ENSMUSG00000092511
AA Change: K496R

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

probably damaging
Transcript: ENSMUST00000176203
AA Change: K289R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135660
Gene: ENSMUSG00000090231
AA Change: K289R

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

probably benign
Transcript: ENSMUST00000146299
AA Change: K802R

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000117677
Gene: ENSMUSG00000092511
AA Change: K802R

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

probably damaging
Transcript: ENSMUST00000154526
AA Change: K287R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120990
Gene: ENSMUSG00000090231
AA Change: K287R

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

noncoding transcript
Transcript: ENSMUST00000184774

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: 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

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: 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: 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: 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: 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: ENSMUST00000176332

Meta Mutation Damage Score

0.2458

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (41/41)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg11	C	A	8: 22,558,095 (GRCm39)	A469E	probably benign	Het
Alox12b	G	A	11: 69,060,442 (GRCm39)	R666H	possibly damaging	Het
Atp9a	T	C	2: 168,491,535 (GRCm39)	T677A	probably damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Bckdk	C	T	7: 127,505,591 (GRCm39)	A238V	probably benign	Het
Brpf3	C	T	17: 29,055,594 (GRCm39)	A1181V	probably damaging	Het
C9	A	G	15: 6,520,965 (GRCm39)	D470G	probably damaging	Het
Camsap2	A	G	1: 136,215,701 (GRCm39)	F337L	probably damaging	Het
Cep152	G	A	2: 125,454,967 (GRCm39)	R278W	probably damaging	Het
Chfr	G	A	5: 110,284,034 (GRCm39)	R36H	probably damaging	Het
Cyp4f14	T	C	17: 33,128,232 (GRCm39)	N261S	probably benign	Het
Drp2	A	T	X: 133,335,884 (GRCm39)		probably benign	Het
Dzip3	A	G	16: 48,763,818 (GRCm39)		probably null	Het
Emb	A	T	13: 117,405,466 (GRCm39)	D296V	probably damaging	Het
Epha1	T	C	6: 42,342,391 (GRCm39)	Y319C	probably damaging	Het
Flcn	C	T	11: 59,694,610 (GRCm39)	V121I	possibly damaging	Het
Glrp1	GTGCTGCTGCTGCTGCTGCTGCTGCTG	GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	1: 88,430,997 (GRCm39)		probably benign	Het
Gm6177	A	T	1: 160,720,741 (GRCm39)		noncoding transcript	Het
Hepacam2	A	T	6: 3,486,988 (GRCm39)	V123E	probably damaging	Het
Iqsec1	A	G	6: 90,671,588 (GRCm39)	S194P	probably damaging	Het
Kat6a	T	C	8: 23,401,945 (GRCm39)	I438T	possibly damaging	Het
Kcnmb2	A	G	3: 32,210,251 (GRCm39)		probably null	Het
Nbeal1	A	T	1: 60,329,105 (GRCm39)	K2174N	possibly damaging	Het
Ncapg	G	A	5: 45,835,797 (GRCm39)	M409I	probably benign	Het
Ocstamp	A	G	2: 165,239,233 (GRCm39)	S318P	possibly damaging	Het
Or5p79	C	T	7: 108,221,096 (GRCm39)	L26F	probably benign	Het
Phactr2	A	G	10: 13,129,564 (GRCm39)	S235P	probably damaging	Het
Pom121l2	T	C	13: 22,166,409 (GRCm39)	S227P	probably benign	Het
Sdf2	C	T	11: 78,141,863 (GRCm39)	T66I	probably damaging	Het
Sptbn5	A	G	2: 119,896,475 (GRCm39)	C729R	probably damaging	Het
Sys1	T	C	2: 164,303,315 (GRCm39)	W10R	probably damaging	Het
Tfap4	A	G	16: 4,369,863 (GRCm39)	I4T	probably damaging	Het
Thrb	C	A	14: 18,030,275 (GRCm38)	Q340K	probably damaging	Het
Tnc	T	C	4: 63,888,588 (GRCm39)	Y1735C	probably damaging	Het
Ubr1	A	T	2: 120,725,547 (GRCm39)		probably null	Het

Other mutations in Cfb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TGGTGGGTAGTCAACACTCC -3'
(R):5'- CAGCCCAGGTTAGAATACAAGG -3'

Sequencing Primer
(F):5'- ACCAGTCTTGTAAGGGCA -3'
(R):5'- CCCAGGTTAGAATACAAGGAGGGAG -3'

Posted On

2015-07-06