Mutagenetix > Incidental Mutation

Incidental Mutation 'R0668:Cfb'

62110

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

038853-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0668 (G1)

Quality Score

220

Status

Not validated

Chromosome

Chromosomal Location

35075350-35081492 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35076079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1176 (Q1176K)

Ref Sequence

ENSEMBL: ENSMUSP00000117677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025229] [ENSMUST00000097343] [ENSMUST00000128767] [ENSMUST00000146299] [ENSMUST00000153400] [ENSMUST00000176203] [ENSMUST00000154526] [ENSMUST00000165953] [ENSMUST00000173065] [ENSMUST00000173357]

AlphaFold

P04186

Predicted Effect

probably benign
Transcript: ENSMUST00000025229
AA Change: Q663K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025229
Gene: ENSMUSG00000090231
AA Change: Q663K

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: 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

probably benign
Transcript: ENSMUST00000128767
AA Change: Q661K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119977
Gene: ENSMUSG00000090231
AA Change: Q661K

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: Q870K

SMART Domains

Protein: ENSMUSP00000120864
Gene: ENSMUSG00000092511
AA Change: Q870K

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

unknown
Transcript: ENSMUST00000141295
AA Change: Q200K

SMART Domains

Protein: ENSMUSP00000118945
Gene: ENSMUSG00000090231
AA Change: Q200K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146299
AA Change: Q1176K

PolyPhen 2 Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000117677
Gene: ENSMUSG00000092511
AA Change: Q1176K

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 benign
Transcript: ENSMUST00000153400
AA Change: Q158K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000116497
Gene: ENSMUSG00000090231
AA Change: Q158K

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

Predicted Effect

silent
Transcript: ENSMUST00000176203

SMART Domains

Protein: ENSMUSP00000135660
Gene: ENSMUSG00000090231

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

unknown
Transcript: ENSMUST00000176332
AA Change: Q195K

Predicted Effect

silent
Transcript: ENSMUST00000154526

SMART Domains

Protein: ENSMUSP00000120990
Gene: ENSMUSG00000090231

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: ENSMUST00000173775

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174075

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184774

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: ENSMUST00000173065

SMART Domains

Protein: ENSMUSP00000133934
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	228	N/A	INTRINSIC

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.6%
20x: 91.4%

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,302,773 (GRCm39)	Q2149K	probably damaging	Het
Aifm1	T	C	X: 47,583,668 (GRCm39)	Q210R	probably benign	Het
Arhgef1	A	G	7: 24,607,345 (GRCm39)	N31D	possibly damaging	Het
Asic5	T	A	3: 81,928,308 (GRCm39)	Y424N	probably damaging	Het
Bltp3a	A	T	17: 28,114,913 (GRCm39)	I1408F	probably benign	Het
Chdh	A	G	14: 29,757,837 (GRCm39)	H447R	probably damaging	Het
Cpd	A	C	11: 76,675,224 (GRCm39)	V1299G	probably damaging	Het
Dnase1l3	A	G	14: 7,968,086 (GRCm38)		probably null	Het
Dnhd1	A	G	7: 105,344,958 (GRCm39)	T2101A	probably benign	Het
Efcab3	A	T	11: 104,611,318 (GRCm39)	I387F	probably benign	Het
Fchsd2	A	G	7: 100,846,127 (GRCm39)	K188E	possibly damaging	Het
Gm10549	A	G	18: 33,603,903 (GRCm39)	T129A	unknown	Het
Jph1	T	A	1: 17,161,895 (GRCm39)	T256S	probably damaging	Het
Kcnma1	A	G	14: 23,417,563 (GRCm39)	Y768H	probably damaging	Het
Lcmt1	G	A	7: 123,002,094 (GRCm39)	D120N	probably damaging	Het
Ly6g6d	G	A	17: 35,290,715 (GRCm39)	H72Y	probably damaging	Het
Myom3	A	G	4: 135,492,237 (GRCm39)	D127G	possibly damaging	Het
Or10c1	T	A	17: 37,522,535 (GRCm39)	I70F	probably damaging	Het
Pira13	G	A	7: 3,825,699 (GRCm39)	T390I	probably damaging	Het
Sart1	T	C	19: 5,434,284 (GRCm39)	Y249C	probably damaging	Het
Scin	A	G	12: 40,130,948 (GRCm39)	Y322H	probably damaging	Het
Slc44a3	T	C	3: 121,303,852 (GRCm39)	T295A	probably damaging	Het
Slc4a5	T	A	6: 83,248,054 (GRCm39)	L535Q	probably damaging	Het
Them5	A	T	3: 94,251,720 (GRCm39)	K110N	probably benign	Het
Vmn1r32	T	A	6: 66,530,644 (GRCm39)	Q44L	possibly damaging	Het
Vmn2r93	T	A	17: 18,518,667 (GRCm39)	M42K	probably benign	Het
Zfp143	A	T	7: 109,660,481 (GRCm39)		probably benign	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
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'- GGGACCACTCACTTGAATGAAGCG -3'
(R):5'- TGTATCTGAGCAAGGGAAGAGCCTG -3'

Sequencing Primer
(F):5'- ACTTGAATGAAGCGGCTTCTC -3'
(R):5'- CCTGACTCGGAAGGAGGTG -3'

Posted On

2013-07-30