Mutagenetix > Incidental Mutation

Incidental Mutation 'R0514:Cfb'

48161

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

038708-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0514 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35075350-35081492 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35079874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 172 (R172G)

Ref Sequence

ENSEMBL: ENSMUSP00000120990 (fasta)

Gene Model

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

AlphaFold

P04186

Predicted Effect

probably damaging
Transcript: ENSMUST00000025229
AA Change: R174G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000025229
Gene: ENSMUSG00000090231
AA Change: R174G

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: R172G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119977
Gene: ENSMUSG00000090231
AA Change: R172G

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: R381G

SMART Domains

Protein: ENSMUSP00000120864
Gene: ENSMUSG00000092511
AA Change: R381G

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: ENSMUST00000146299
AA Change: R687G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117677
Gene: ENSMUSG00000092511
AA Change: R687G

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: ENSMUST00000176203
AA Change: R174G

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

SMART Domains

Protein: ENSMUSP00000135660
Gene: ENSMUSG00000090231
AA Change: R174G

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 damaging
Transcript: ENSMUST00000154526
AA Change: R172G

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

SMART Domains

Protein: ENSMUSP00000120990
Gene: ENSMUSG00000090231
AA Change: R172G

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: 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: 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: 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: 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: 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: 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: ENSMUST00000176332

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	T	A	9: 104,197,177 (GRCm39)	Y154F	probably damaging	Het
Acsl6	A	T	11: 54,241,406 (GRCm39)	D579V	probably damaging	Het
Adamts18	C	T	8: 114,465,401 (GRCm39)		probably null	Het
Adamts20	A	T	15: 94,168,257 (GRCm39)	V1882D	probably damaging	Het
Add3	A	T	19: 53,225,274 (GRCm39)	K465*	probably null	Het
Ago1	T	G	4: 126,333,388 (GRCm39)	I524L	probably benign	Het
Akr1c18	A	G	13: 4,187,190 (GRCm39)	M208T	probably benign	Het
Anapc1	C	A	2: 128,474,575 (GRCm39)	L1413F	probably damaging	Het
Arid4b	A	T	13: 14,358,902 (GRCm39)	D646V	probably damaging	Het
Arnt2	T	C	7: 83,954,067 (GRCm39)	E261G	probably benign	Het
Bccip	C	T	7: 133,320,859 (GRCm39)	T211I	possibly damaging	Het
Bsn	T	C	9: 108,002,981 (GRCm39)	S475G	probably benign	Het
Cdh26	G	A	2: 178,108,621 (GRCm39)		probably null	Het
Ceacam2	A	G	7: 25,220,356 (GRCm39)	F414S	probably benign	Het
Cep43	A	G	17: 8,410,266 (GRCm39)	N342S	possibly damaging	Het
Cntnap5b	A	C	1: 99,700,511 (GRCm39)	T8P	probably benign	Het
Cpne9	A	T	6: 113,266,974 (GRCm39)	I136L	probably damaging	Het
Crtc1	A	T	8: 70,855,079 (GRCm39)		probably null	Het
Dcdc2a	A	T	13: 25,303,369 (GRCm39)	H300L	probably benign	Het
Dhdh	C	T	7: 45,138,130 (GRCm39)	V20M	probably benign	Het
Dhx34	T	C	7: 15,944,462 (GRCm39)	Q584R	probably benign	Het
Dis3l2	A	G	1: 86,974,814 (GRCm39)	Y701C	probably damaging	Het
Dmrt2	T	C	19: 25,653,019 (GRCm39)		probably null	Het
Dnah5	A	G	15: 28,366,467 (GRCm39)	T2727A	probably damaging	Het
Dop1a	A	G	9: 86,402,787 (GRCm39)	E1329G	probably damaging	Het
Evpl	A	G	11: 116,114,117 (GRCm39)	V1191A	probably damaging	Het
Fhl4	T	C	10: 84,934,250 (GRCm39)	D177G	probably damaging	Het
Gask1a	A	G	9: 121,807,418 (GRCm39)	T521A	possibly damaging	Het
Heg1	A	G	16: 33,547,126 (GRCm39)	T662A	possibly damaging	Het
Ifih1	A	G	2: 62,453,735 (GRCm39)		probably null	Het
Il13	T	C	11: 53,523,345 (GRCm39)	R87G	possibly damaging	Het
Kcnc3	T	A	7: 44,245,352 (GRCm39)	Y547*	probably null	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lama1	G	A	17: 68,071,693 (GRCm39)	G860D	probably benign	Het
Lmo7	T	C	14: 102,124,609 (GRCm39)	L356P	probably damaging	Het
Lmo7	A	T	14: 102,133,995 (GRCm39)	K447I	probably damaging	Het
Lrp2bp	A	G	8: 46,464,995 (GRCm39)	H38R	probably damaging	Het
Magi3	G	A	3: 103,922,338 (GRCm39)	P1460S	probably damaging	Het
Megf8	T	A	7: 25,063,728 (GRCm39)	C2695S	possibly damaging	Het
Mrgprb2	T	G	7: 48,201,718 (GRCm39)	S336R	probably benign	Het
Mrgprx2	C	T	7: 48,132,712 (GRCm39)	M1I	probably null	Het
Mug2	T	C	6: 122,058,558 (GRCm39)	L1320P	probably damaging	Het
Noxred1	A	G	12: 87,273,838 (GRCm39)	S68P	probably benign	Het
Or51f5	T	A	7: 102,424,539 (GRCm39)	H269Q	probably benign	Het
Or56b1b	T	A	7: 108,164,879 (GRCm39)	Y41F	probably damaging	Het
Os9	C	T	10: 126,955,508 (GRCm39)	C123Y	probably damaging	Het
Ostf1	T	A	19: 18,573,723 (GRCm39)	T42S	probably benign	Het
Parg	C	A	14: 31,976,517 (GRCm39)	T186K	possibly damaging	Het
Pcnx1	T	A	12: 82,041,884 (GRCm39)	M2172K	probably benign	Het
Pip4k2a	A	G	2: 18,850,747 (GRCm39)	I360T	probably damaging	Het
Pkn2	T	C	3: 142,516,219 (GRCm39)	D568G	possibly damaging	Het
Plch2	A	G	4: 155,083,343 (GRCm39)	S431P	probably damaging	Het
Prl8a6	A	T	13: 27,616,990 (GRCm39)	C233*	probably null	Het
Prox1	G	A	1: 189,893,653 (GRCm39)	T264I	probably damaging	Het
Prr5	A	G	15: 84,586,967 (GRCm39)	N248S	probably benign	Het
Psip1	A	C	4: 83,378,274 (GRCm39)	S407R	probably damaging	Het
Rab32	A	T	10: 10,426,640 (GRCm39)	V102E	probably damaging	Het
Rap1gap2	T	G	11: 74,279,680 (GRCm39)	K687Q	possibly damaging	Het
Rbak	A	T	5: 143,159,169 (GRCm39)	V628E	probably damaging	Het
Rnf148	T	C	6: 23,654,792 (GRCm39)	E68G	possibly damaging	Het
Rnf212	A	T	5: 108,897,308 (GRCm39)	S3T	probably damaging	Het
Rrad	T	G	8: 105,355,259 (GRCm39)	I250L	probably benign	Het
Sall4	T	C	2: 168,597,625 (GRCm39)	H405R	probably damaging	Het
Scn9a	T	C	2: 66,314,022 (GRCm39)	R1888G	probably damaging	Het
Setd5	G	T	6: 113,096,398 (GRCm39)	E535*	probably null	Het
Slc20a1	C	T	2: 129,041,811 (GRCm39)	S58L	probably damaging	Het
Slc31a1	A	G	4: 62,303,841 (GRCm39)		probably benign	Het
Slc38a11	G	T	2: 65,147,209 (GRCm39)	Q423K	probably benign	Het
Snrpd1	A	T	18: 10,626,846 (GRCm39)	T38S	possibly damaging	Het
Taar4	A	G	10: 23,836,780 (GRCm39)	D130G	probably damaging	Het
Tfb2m	C	T	1: 179,358,869 (GRCm39)	R338H	probably benign	Het
Tm2d2	A	G	8: 25,512,742 (GRCm39)	I197V	possibly damaging	Het
Tmem132a	C	T	19: 10,836,355 (GRCm39)	G725D	probably damaging	Het
Tmem67	T	C	4: 12,089,317 (GRCm39)	T38A	probably benign	Het
Tmprss15	A	T	16: 78,765,155 (GRCm39)	S816T	probably benign	Het
Tnfrsf11a	A	G	1: 105,754,717 (GRCm39)	E263G	probably damaging	Het
Tnfrsf17	C	T	16: 11,133,191 (GRCm39)	L90F	probably benign	Het
Tpr	A	G	1: 150,278,024 (GRCm39)	K117E	possibly damaging	Het
Trim43a	C	T	9: 88,466,389 (GRCm39)	Q5*	probably null	Het
Ubn1	A	T	16: 4,890,935 (GRCm39)	D498V	probably damaging	Het
Vipr1	T	A	9: 121,487,115 (GRCm39)	C63S	probably damaging	Het
Vmn1r237	T	A	17: 21,534,932 (GRCm39)	H218Q	possibly damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r95	T	C	17: 18,671,844 (GRCm39)	V527A	probably benign	Het
Vmn2r97	A	T	17: 19,134,734 (GRCm39)	T51S	probably benign	Het
Vwa8	G	A	14: 79,184,629 (GRCm39)	V376I	probably benign	Het
Wdfy4	T	A	14: 32,802,732 (GRCm39)	T1838S	probably benign	Het
Zcwpw1	A	T	5: 137,794,945 (GRCm39)	E47V	probably benign	Het
Zeb2	T	C	2: 44,892,659 (GRCm39)	E130G	possibly damaging	Het
Zfp111	A	G	7: 23,898,568 (GRCm39)	Y348H	probably damaging	Het
Zfp53	T	C	17: 21,729,271 (GRCm39)	S435P	probably damaging	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
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'- CACGCTGACAGGGTGATAGGATTTC -3'
(R):5'- TCTGCTAATCGCACCTGCCAAG -3'

Sequencing Primer
(F):5'- TTCAGAACGAGAGACTCTTAGTG -3'
(R):5'- TCGCACCTGCCAAGAGAATG -3'

Posted On

2013-06-12