Incidental Mutation 'R2135:Cfb'
ID |
235760 |
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 |
040138-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2135 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
35075350-35081492 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 35076254 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 1145
(V1145I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025229]
[ENSMUST00000097343]
[ENSMUST00000128767]
[ENSMUST00000146299]
[ENSMUST00000153400]
[ENSMUST00000154526]
[ENSMUST00000176203]
[ENSMUST00000165953]
[ENSMUST00000173357]
[ENSMUST00000173065]
|
AlphaFold |
P04186 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025229
AA Change: V632I
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000025229 Gene: ENSMUSG00000090231 AA Change: V632I
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: V630I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000119977 Gene: ENSMUSG00000090231 AA Change: V630I
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: V839I
|
SMART Domains |
Protein: ENSMUSP00000120864 Gene: ENSMUSG00000092511 AA Change: V839I
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: V169I
|
SMART Domains |
Protein: ENSMUSP00000118945 Gene: ENSMUSG00000090231 AA Change: V169I
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
18 |
258 |
3.76e-7 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146299
AA Change: V1145I
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000117677 Gene: ENSMUSG00000092511 AA Change: V1145I
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: V127I
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000116497 Gene: ENSMUSG00000090231 AA Change: V127I
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
1 |
217 |
2.36e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154526
AA Change: V630I
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000120990 Gene: ENSMUSG00000090231 AA Change: V630I
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: ENSMUST00000176203
AA Change: V632I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000135660 Gene: ENSMUSG00000090231 AA Change: V632I
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: V164I
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184774
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174075
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173775
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174888
|
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: 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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
100% (70/70) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
T |
5: 109,885,509 (GRCm39) |
H116Q |
probably benign |
Het |
Adamts16 |
C |
A |
13: 70,949,126 (GRCm39) |
L178F |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,672,676 (GRCm39) |
|
probably null |
Het |
Akap9 |
A |
G |
5: 4,114,509 (GRCm39) |
T46A |
probably damaging |
Het |
Ankrd2 |
T |
C |
19: 42,032,498 (GRCm39) |
L253P |
probably damaging |
Het |
Arap3 |
T |
C |
18: 38,107,509 (GRCm39) |
D1336G |
probably damaging |
Het |
Cacna2d2 |
C |
A |
9: 107,403,712 (GRCm39) |
L992I |
possibly damaging |
Het |
Cdhr2 |
T |
A |
13: 54,868,760 (GRCm39) |
I574N |
probably damaging |
Het |
Cecr2 |
C |
T |
6: 120,697,923 (GRCm39) |
T74M |
probably damaging |
Het |
Ces5a |
C |
A |
8: 94,226,369 (GRCm39) |
E481D |
probably benign |
Het |
Cfap74 |
C |
G |
4: 155,514,397 (GRCm39) |
N544K |
probably damaging |
Het |
Cfap74 |
T |
A |
4: 155,514,408 (GRCm39) |
L548Q |
probably damaging |
Het |
CK137956 |
A |
G |
4: 127,845,433 (GRCm39) |
|
probably benign |
Het |
Commd10 |
T |
A |
18: 47,123,604 (GRCm39) |
L153Q |
possibly damaging |
Het |
Cox6c |
T |
C |
15: 35,937,429 (GRCm39) |
|
probably benign |
Het |
Dock4 |
A |
G |
12: 40,795,667 (GRCm39) |
Y828C |
probably benign |
Het |
Ermp1 |
T |
C |
19: 29,623,465 (GRCm39) |
D119G |
possibly damaging |
Het |
Ext1 |
G |
T |
15: 52,965,140 (GRCm39) |
Q409K |
possibly damaging |
Het |
Fat4 |
A |
T |
3: 39,034,882 (GRCm39) |
I2845F |
probably damaging |
Het |
Frmd6 |
A |
G |
12: 70,941,771 (GRCm39) |
N494S |
probably benign |
Het |
Fscn3 |
A |
G |
6: 28,431,583 (GRCm39) |
T305A |
probably benign |
Het |
Gbx1 |
G |
T |
5: 24,731,220 (GRCm39) |
R199S |
possibly damaging |
Het |
Gm11437 |
T |
C |
11: 84,044,638 (GRCm39) |
R192G |
probably damaging |
Het |
Gucy2c |
T |
A |
6: 136,700,726 (GRCm39) |
D572V |
probably damaging |
Het |
Idh1 |
A |
C |
1: 65,201,078 (GRCm39) |
M291R |
probably damaging |
Het |
Kcnt2 |
A |
G |
1: 140,356,551 (GRCm39) |
Y330C |
probably damaging |
Het |
Kdm4a |
A |
G |
4: 117,999,656 (GRCm39) |
L922P |
probably damaging |
Het |
L3mbtl2 |
A |
G |
15: 81,566,215 (GRCm39) |
D346G |
possibly damaging |
Het |
Lsm14a |
A |
G |
7: 34,070,609 (GRCm39) |
S96P |
probably damaging |
Het |
Ltn1 |
A |
G |
16: 87,179,601 (GRCm39) |
L1520P |
probably damaging |
Het |
Marchf6 |
A |
T |
15: 31,509,910 (GRCm39) |
C26* |
probably null |
Het |
Msra |
G |
A |
14: 64,360,657 (GRCm39) |
P228L |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,383,378 (GRCm39) |
D395E |
probably benign |
Het |
Mycbp2 |
T |
C |
14: 103,446,329 (GRCm39) |
Y1800C |
probably damaging |
Het |
Ncr1 |
C |
A |
7: 4,343,756 (GRCm39) |
|
probably benign |
Het |
Nkd1 |
T |
C |
8: 89,318,278 (GRCm39) |
I201T |
probably benign |
Het |
Nsrp1 |
A |
T |
11: 76,945,834 (GRCm39) |
|
probably benign |
Het |
Or2t48 |
A |
C |
11: 58,420,611 (GRCm39) |
I67S |
probably damaging |
Het |
Or7e177 |
T |
A |
9: 20,211,593 (GRCm39) |
D32E |
probably benign |
Het |
Pate5 |
A |
C |
9: 35,750,479 (GRCm39) |
|
probably null |
Het |
Pkdrej |
T |
C |
15: 85,700,707 (GRCm39) |
Y1743C |
probably damaging |
Het |
Plekha5 |
T |
A |
6: 140,526,225 (GRCm39) |
H281Q |
possibly damaging |
Het |
Ppp2r3d |
A |
C |
9: 101,088,757 (GRCm39) |
M522R |
probably damaging |
Het |
Prdm12 |
T |
C |
2: 31,530,325 (GRCm39) |
F72S |
possibly damaging |
Het |
Prima1 |
A |
T |
12: 103,168,949 (GRCm39) |
F106L |
probably damaging |
Het |
Ptchd4 |
A |
G |
17: 42,627,965 (GRCm39) |
H142R |
probably benign |
Het |
Rasgrf2 |
G |
A |
13: 92,120,374 (GRCm39) |
A793V |
probably benign |
Het |
Rbsn |
T |
A |
6: 92,166,854 (GRCm39) |
M597L |
probably benign |
Het |
Ripk4 |
A |
T |
16: 97,544,933 (GRCm39) |
D571E |
probably damaging |
Het |
Rp9 |
T |
C |
9: 22,379,425 (GRCm39) |
K25E |
possibly damaging |
Het |
Sec31b |
T |
C |
19: 44,523,135 (GRCm39) |
S211G |
probably damaging |
Het |
Shank2 |
C |
T |
7: 143,964,971 (GRCm39) |
P1070S |
probably damaging |
Het |
Sla |
A |
G |
15: 66,654,563 (GRCm39) |
V241A |
probably benign |
Het |
Slc25a40 |
A |
G |
5: 8,477,489 (GRCm39) |
T25A |
possibly damaging |
Het |
Slc3a2 |
A |
G |
19: 8,685,608 (GRCm39) |
S164P |
probably benign |
Het |
Slc7a5 |
A |
T |
8: 122,610,444 (GRCm39) |
W457R |
probably null |
Het |
Slco6c1 |
A |
G |
1: 97,032,542 (GRCm39) |
M303T |
probably benign |
Het |
Smim10l1 |
T |
C |
6: 133,082,489 (GRCm39) |
F12S |
probably damaging |
Het |
Syne2 |
A |
G |
12: 75,999,560 (GRCm39) |
I2318V |
probably damaging |
Het |
Tecta |
A |
C |
9: 42,251,581 (GRCm39) |
C1781G |
probably damaging |
Het |
Timmdc1 |
A |
T |
16: 38,319,313 (GRCm39) |
H280Q |
probably benign |
Het |
Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
Tmem30b |
A |
G |
12: 73,592,107 (GRCm39) |
L336P |
probably damaging |
Het |
Tmem94 |
A |
G |
11: 115,685,575 (GRCm39) |
I943V |
probably benign |
Het |
Tshb |
A |
G |
3: 102,685,464 (GRCm39) |
|
probably null |
Het |
Vcpip1 |
A |
G |
1: 9,818,035 (GRCm39) |
V116A |
probably benign |
Het |
Vmn2r76 |
A |
G |
7: 85,880,219 (GRCm39) |
Y156H |
probably benign |
Het |
Zcrb1 |
T |
C |
15: 93,295,067 (GRCm39) |
N23S |
probably damaging |
Het |
Zfyve26 |
T |
C |
12: 79,292,826 (GRCm39) |
R2108G |
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 |
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'- TTGACCTTCTCATAGCCTTGGG -3'
(R):5'- AGCACAGTAAGGCATAGTCTG -3'
Sequencing Primer
(F):5'- GCCTTGGGCCTTTGTAGCATC -3'
(R):5'- CAGTAAGGCATAGTCTGGGATAAGAC -3'
|
Posted On |
2014-10-01 |