Incidental Mutation 'R4291:Cfb'
| ID |
323093 |
| 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 |
041081-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4291 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35075350-35081492 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 35080114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 122
(D122A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120990
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025229]
[ENSMUST00000025230]
[ENSMUST00000097343]
[ENSMUST00000128767]
[ENSMUST00000176203]
[ENSMUST00000154526]
[ENSMUST00000146299]
[ENSMUST00000153400]
[ENSMUST00000148431]
[ENSMUST00000165953]
[ENSMUST00000152417]
[ENSMUST00000173357]
|
| AlphaFold |
P04186 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025229
AA Change: D124A
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000025229
Gene: ENSMUSG00000090231
AA Change: D124A
| 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 |
possibly damaging
Transcript: ENSMUST00000128767
AA Change: D122A
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119977
Gene: ENSMUSG00000090231
AA Change: D122A
| 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: D331A
|
| SMART Domains |
Protein: ENSMUSP00000120864
Gene: ENSMUSG00000092511
AA Change: D331A
| 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: ENSMUST00000176203
AA Change: D124A
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135660
Gene: ENSMUSG00000090231
AA Change: D124A
| 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 |
possibly damaging
Transcript: ENSMUST00000154526
AA Change: D122A
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120990
Gene: ENSMUSG00000090231
AA Change: D122A
| 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: ENSMUST00000146299
AA Change: D637A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000117677
Gene: ENSMUSG00000092511
AA Change: D637A
| 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 |
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: 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: 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: 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 |
0.3938 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (62/62) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
T |
C |
3: 36,120,337 (GRCm39) |
F27S |
probably benign |
Het |
| AK157302 |
T |
A |
13: 21,679,715 (GRCm39) |
D80E |
probably damaging |
Het |
| Amz2 |
T |
C |
11: 109,324,881 (GRCm39) |
|
probably null |
Het |
| Angel1 |
A |
G |
12: 86,767,057 (GRCm39) |
Y440H |
probably damaging |
Het |
| Ankrd34c |
T |
A |
9: 89,611,817 (GRCm39) |
K175* |
probably null |
Het |
| Arid1b |
C |
A |
17: 5,090,938 (GRCm39) |
S546R |
probably damaging |
Het |
| Atf6b |
T |
A |
17: 34,871,648 (GRCm39) |
M428K |
probably benign |
Het |
| Brpf3 |
G |
A |
17: 29,042,949 (GRCm39) |
V997M |
probably benign |
Het |
| Cckar |
A |
G |
5: 53,863,839 (GRCm39) |
S41P |
probably benign |
Het |
| Cd96 |
T |
A |
16: 45,892,112 (GRCm39) |
Q292L |
probably damaging |
Het |
| Cdh18 |
C |
A |
15: 22,714,637 (GRCm39) |
|
probably benign |
Het |
| Copa |
G |
T |
1: 171,919,964 (GRCm39) |
|
probably benign |
Het |
| Ctnna2 |
T |
A |
6: 76,859,728 (GRCm39) |
K854N |
probably damaging |
Het |
| Cwh43 |
G |
A |
5: 73,569,275 (GRCm39) |
V106M |
probably benign |
Het |
| Dact2 |
C |
T |
17: 14,416,833 (GRCm39) |
E456K |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,967,533 (GRCm39) |
S2582P |
probably benign |
Het |
| Eef2 |
A |
G |
10: 81,015,414 (GRCm39) |
T312A |
probably benign |
Het |
| Enpep |
T |
A |
3: 129,063,966 (GRCm39) |
R934* |
probably null |
Het |
| Fam240b |
A |
T |
13: 64,629,627 (GRCm39) |
M63K |
possibly damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gm6124 |
A |
T |
7: 38,872,195 (GRCm39) |
|
noncoding transcript |
Het |
| Gsn |
G |
A |
2: 35,180,432 (GRCm39) |
V147I |
probably benign |
Het |
| Gucy1a1 |
A |
T |
3: 82,002,066 (GRCm39) |
F671Y |
possibly damaging |
Het |
| Hectd3 |
A |
G |
4: 116,852,889 (GRCm39) |
E97G |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Krba1 |
C |
T |
6: 48,392,599 (GRCm39) |
P802S |
possibly damaging |
Het |
| Lca5l |
C |
T |
16: 95,979,974 (GRCm39) |
S52N |
probably damaging |
Het |
| Lmf1 |
T |
C |
17: 25,873,455 (GRCm39) |
L320P |
probably damaging |
Het |
| Map3k4 |
G |
T |
17: 12,474,147 (GRCm39) |
Q845K |
probably benign |
Het |
| Mapkapk3 |
T |
C |
9: 107,136,131 (GRCm39) |
|
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,044,217 (GRCm39) |
V203A |
probably damaging |
Het |
| Mcm9 |
C |
A |
10: 53,423,668 (GRCm39) |
M677I |
probably benign |
Het |
| Mkrn2 |
A |
G |
6: 115,594,395 (GRCm39) |
T369A |
possibly damaging |
Het |
| Mthfr |
C |
A |
4: 148,139,949 (GRCm39) |
N623K |
probably damaging |
Het |
| Myh2 |
T |
C |
11: 67,071,985 (GRCm39) |
V571A |
probably benign |
Het |
| Nom1 |
G |
A |
5: 29,651,370 (GRCm39) |
|
probably null |
Het |
| Nucb1 |
T |
A |
7: 45,144,704 (GRCm39) |
D283V |
probably damaging |
Het |
| Or12e8 |
G |
A |
2: 87,188,419 (GRCm39) |
M210I |
probably benign |
Het |
| Or14c46 |
A |
T |
7: 85,918,968 (GRCm39) |
F10I |
probably damaging |
Het |
| Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
| Pcdhb1 |
A |
C |
18: 37,398,470 (GRCm39) |
L140F |
probably damaging |
Het |
| Ptgs2 |
G |
A |
1: 149,976,002 (GRCm39) |
A10T |
probably benign |
Het |
| Rfx3 |
C |
T |
19: 27,777,632 (GRCm39) |
R497Q |
probably damaging |
Het |
| Rps6kb1 |
A |
T |
11: 86,410,702 (GRCm39) |
|
probably benign |
Het |
| Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
| Spata13 |
T |
A |
14: 60,947,004 (GRCm39) |
M684K |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,350,181 (GRCm39) |
T961A |
probably damaging |
Het |
| Ttc27 |
T |
C |
17: 75,163,474 (GRCm39) |
L694P |
probably damaging |
Het |
| Vmn1r238 |
G |
A |
18: 3,123,214 (GRCm39) |
Q67* |
probably null |
Het |
| Vmn2r101 |
A |
T |
17: 19,832,303 (GRCm39) |
R766S |
probably damaging |
Het |
| Vwf |
A |
T |
6: 125,619,285 (GRCm39) |
Y1321F |
probably damaging |
Het |
| Wfdc1 |
C |
A |
8: 120,406,194 (GRCm39) |
P103Q |
probably damaging |
Het |
| Zfp488 |
C |
A |
14: 33,692,851 (GRCm39) |
C104F |
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 |
|
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'- TAAGACAATTTGAGGGCCCATGC -3'
(R):5'- TAGTCCCATAACACAAGAGGCG -3'
Sequencing Primer
(F):5'- AATTTGAGGGCCCATGCATTCC -3'
(R):5'- TAGGGTTGAGGGGACTAGGC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation