Incidental Mutation 'R4616:Cfb'
ID |
351068 |
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 |
041827-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4616 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
35075350-35081492 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 35078044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 962
(H962L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025229]
[ENSMUST00000025230]
[ENSMUST00000097343]
[ENSMUST00000128767]
[ENSMUST00000146299]
[ENSMUST00000154526]
[ENSMUST00000173065]
[ENSMUST00000148431]
[ENSMUST00000165953]
[ENSMUST00000173357]
[ENSMUST00000153400]
[ENSMUST00000152417]
[ENSMUST00000176203]
|
AlphaFold |
P04186 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025229
AA Change: H449L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000025229 Gene: ENSMUSG00000090231 AA Change: H449L
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 |
probably benign
Transcript: ENSMUST00000128767
AA Change: H447L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000119977 Gene: ENSMUSG00000090231 AA Change: H447L
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: H656L
|
SMART Domains |
Protein: ENSMUSP00000120864 Gene: ENSMUSG00000092511 AA Change: H656L
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 benign
Transcript: ENSMUST00000146299
AA Change: H962L
PolyPhen 2
Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000117677 Gene: ENSMUSG00000092511 AA Change: H962L
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: ENSMUST00000154526
AA Change: H447L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000120990 Gene: ENSMUSG00000090231 AA Change: H447L
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: ENSMUST00000174075
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174888
|
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: 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: 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: 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: 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: 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: ENSMUST00000176203
AA Change: H449L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000135660 Gene: ENSMUSG00000090231 AA Change: H449L
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: H53L
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184774
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (64/64) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acod1 |
C |
T |
14: 103,292,781 (GRCm39) |
T435M |
probably benign |
Het |
Adgrf5 |
T |
C |
17: 43,763,331 (GRCm39) |
F1078L |
probably benign |
Het |
Adh6a |
A |
T |
3: 138,030,708 (GRCm39) |
N110I |
probably damaging |
Het |
Aldh16a1 |
T |
C |
7: 44,798,212 (GRCm39) |
|
probably benign |
Het |
Aopep |
G |
A |
13: 63,446,565 (GRCm39) |
E123K |
probably damaging |
Het |
Arhgef17 |
A |
G |
7: 100,531,692 (GRCm39) |
F1302S |
probably damaging |
Het |
Bcl2a1a |
C |
T |
9: 88,839,506 (GRCm39) |
R135W |
probably damaging |
Het |
Bpifa6 |
T |
C |
2: 153,824,908 (GRCm39) |
S28P |
possibly damaging |
Het |
C9 |
A |
G |
15: 6,520,944 (GRCm39) |
D51G |
probably damaging |
Het |
Chn2 |
G |
A |
6: 54,267,388 (GRCm39) |
M292I |
probably damaging |
Het |
Clec16a |
T |
A |
16: 10,462,747 (GRCm39) |
|
probably null |
Het |
Cyp1a1 |
T |
C |
9: 57,609,039 (GRCm39) |
S307P |
probably benign |
Het |
Dsg3 |
T |
C |
18: 20,664,616 (GRCm39) |
V538A |
probably benign |
Het |
Erbb3 |
G |
A |
10: 128,408,639 (GRCm39) |
Q815* |
probably null |
Het |
Fam90a1a |
C |
A |
8: 22,453,862 (GRCm39) |
Q406K |
possibly damaging |
Het |
Frmd3 |
T |
C |
4: 74,106,109 (GRCm39) |
V585A |
probably benign |
Het |
Gm8214 |
T |
C |
1: 183,414,094 (GRCm39) |
|
noncoding transcript |
Het |
Gpld1 |
G |
A |
13: 25,168,799 (GRCm39) |
G771D |
probably damaging |
Het |
Gpr20 |
T |
C |
15: 73,567,585 (GRCm39) |
N268S |
probably benign |
Het |
Gria2 |
A |
T |
3: 80,614,204 (GRCm39) |
I612N |
probably damaging |
Het |
Ifit1bl1 |
T |
C |
19: 34,572,010 (GRCm39) |
E149G |
probably damaging |
Het |
Ighv1-82 |
T |
C |
12: 115,916,280 (GRCm39) |
T77A |
probably benign |
Het |
Ighv2-9 |
G |
T |
12: 113,842,839 (GRCm39) |
T76K |
probably damaging |
Het |
Igkv6-13 |
A |
T |
6: 70,435,019 (GRCm39) |
M1K |
probably null |
Het |
Igkv8-21 |
A |
T |
6: 70,292,141 (GRCm39) |
S34T |
probably benign |
Het |
Itpr1 |
A |
G |
6: 108,458,184 (GRCm39) |
N1985D |
probably damaging |
Het |
Jkampl |
A |
G |
6: 73,446,252 (GRCm39) |
V99A |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,637,454 (GRCm39) |
|
probably null |
Het |
Lamc2 |
T |
C |
1: 153,041,915 (GRCm39) |
Y73C |
probably damaging |
Het |
Maff |
A |
G |
15: 79,241,898 (GRCm39) |
D105G |
probably damaging |
Het |
Mep1a |
C |
T |
17: 43,797,132 (GRCm39) |
V312M |
possibly damaging |
Het |
Mfap4 |
C |
A |
11: 61,376,335 (GRCm39) |
|
probably benign |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Mrgbp |
A |
T |
2: 180,227,107 (GRCm39) |
|
silent |
Het |
Mtmr4 |
T |
C |
11: 87,501,761 (GRCm39) |
L548S |
probably damaging |
Het |
Myo7b |
T |
C |
18: 32,136,540 (GRCm39) |
|
probably null |
Het |
Myo9a |
T |
C |
9: 59,728,932 (GRCm39) |
I596T |
probably damaging |
Het |
Or2f1b |
G |
T |
6: 42,739,352 (GRCm39) |
R122L |
probably benign |
Het |
Or52e3 |
C |
T |
7: 102,869,629 (GRCm39) |
R235* |
probably null |
Het |
Pcsk5 |
T |
G |
19: 17,538,114 (GRCm39) |
Q904H |
probably benign |
Het |
Pdzrn3 |
G |
T |
6: 101,128,970 (GRCm39) |
H565Q |
probably damaging |
Het |
Phkg2 |
C |
T |
7: 127,176,792 (GRCm39) |
R61W |
probably damaging |
Het |
Pkd2l1 |
C |
A |
19: 44,142,573 (GRCm39) |
A490S |
probably damaging |
Het |
Pomgnt1 |
T |
A |
4: 116,012,087 (GRCm39) |
I337N |
probably damaging |
Het |
Psmd3 |
T |
C |
11: 98,573,752 (GRCm39) |
V66A |
probably benign |
Het |
Ptger3 |
T |
C |
3: 157,272,931 (GRCm39) |
S93P |
probably damaging |
Het |
Rbm27 |
T |
A |
18: 42,434,840 (GRCm39) |
D301E |
probably damaging |
Het |
Rdh16 |
A |
T |
10: 127,637,382 (GRCm39) |
|
probably null |
Het |
Slc35a5 |
A |
T |
16: 44,964,655 (GRCm39) |
F193I |
probably benign |
Het |
Slc4a4 |
A |
G |
5: 89,186,420 (GRCm39) |
K167R |
probably damaging |
Het |
Sort1 |
A |
T |
3: 108,262,857 (GRCm39) |
T772S |
possibly damaging |
Het |
Sptbn5 |
T |
A |
2: 119,879,238 (GRCm39) |
|
noncoding transcript |
Het |
Stard5 |
G |
T |
7: 83,282,489 (GRCm39) |
|
probably benign |
Het |
Tbc1d22a |
A |
G |
15: 86,119,886 (GRCm39) |
T61A |
probably damaging |
Het |
Tox2 |
T |
C |
2: 163,162,567 (GRCm39) |
L479P |
probably damaging |
Het |
Usp53 |
A |
T |
3: 122,752,769 (GRCm39) |
M80K |
probably damaging |
Het |
Vmn1r209 |
A |
T |
13: 22,990,135 (GRCm39) |
L185Q |
probably damaging |
Het |
Vmn2r59 |
A |
G |
7: 41,661,862 (GRCm39) |
I651T |
probably benign |
Het |
Vsig1 |
G |
T |
X: 139,827,135 (GRCm39) |
A95S |
probably benign |
Het |
Zfhx4 |
T |
C |
3: 5,478,127 (GRCm39) |
S3556P |
possibly 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 |
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 |
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'- TGCTGACTTGCTGTGCTCAG -3'
(R):5'- TTCAGGACATCCGAGCCTTG -3'
Sequencing Primer
(F):5'- ACAAGCTATTAGAGTTCTGTGAGTG -3'
(R):5'- ATCCGAGCCTTGCTGGACATC -3'
|
Posted On |
2015-10-08 |