Incidental Mutation 'R6065:Fcnb'
ID |
483996 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fcnb
|
Ensembl Gene |
ENSMUSG00000026835 |
Gene Name |
ficolin B |
Synonyms |
|
MMRRC Submission |
044229-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6065 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
27966491-27974921 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 27969922 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Glycine
at position 106
(C106G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119098
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028179]
[ENSMUST00000117486]
[ENSMUST00000135472]
|
AlphaFold |
O70497 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028179
AA Change: C99G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000028179 Gene: ENSMUSG00000026835 AA Change: C99G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Pfam:Collagen
|
39 |
99 |
1.1e-11 |
PFAM |
FBG
|
101 |
314 |
1.78e-115 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117486
AA Change: C99G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112625 Gene: ENSMUSG00000026835 AA Change: C99G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Pfam:Collagen
|
39 |
99 |
6.7e-12 |
PFAM |
FBG
|
101 |
250 |
1.33e-41 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000135472
AA Change: C106G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119098 Gene: ENSMUSG00000026835 AA Change: C106G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Pfam:Collagen
|
38 |
81 |
5.3e-10 |
PFAM |
internal_repeat_1
|
86 |
107 |
1.19e-5 |
PROSPERO |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The ficolin family of proteins are characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. The collagen-like and the fibrinogen-like domains are also found separately in other proteins such as complement protein C1q, C-type lectins known as collectins, and tenascins. However, all these proteins recognize different targets, and are functionally distinct. Ficolin 1 encoded by FCN1 is predominantly expressed in the peripheral blood leukocytes, and has been postulated to function as a plasma protein with elastin-binding activity. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to Streptococcus pneumoniae infection. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff1 |
T |
C |
5: 103,990,118 (GRCm39) |
S871P |
probably damaging |
Het |
Ccdc150 |
T |
C |
1: 54,302,758 (GRCm39) |
I126T |
possibly damaging |
Het |
Ccdc87 |
A |
T |
19: 4,891,268 (GRCm39) |
M587L |
probably benign |
Het |
Cd300ld2 |
G |
A |
11: 114,903,428 (GRCm39) |
|
probably benign |
Het |
Chsy3 |
GT |
G |
18: 59,309,238 (GRCm39) |
163 |
probably null |
Het |
Dchs1 |
T |
C |
7: 105,404,628 (GRCm39) |
D2638G |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,230,614 (GRCm39) |
I171F |
possibly damaging |
Het |
Dnah9 |
T |
C |
11: 65,746,164 (GRCm39) |
D3983G |
probably benign |
Het |
Dnah9 |
A |
G |
11: 66,036,223 (GRCm39) |
S396P |
possibly damaging |
Het |
Fbxw15 |
T |
A |
9: 109,397,246 (GRCm39) |
D18V |
probably damaging |
Het |
Firrm |
A |
T |
1: 163,786,957 (GRCm39) |
L704Q |
probably benign |
Het |
Firrm |
A |
G |
1: 163,815,257 (GRCm39) |
M88T |
probably damaging |
Het |
Gm3453 |
T |
C |
14: 5,978,233 (GRCm38) |
T57A |
probably damaging |
Het |
Grin2a |
T |
C |
16: 9,579,771 (GRCm39) |
D164G |
possibly damaging |
Het |
Hmcn1 |
C |
T |
1: 150,646,081 (GRCm39) |
V706I |
probably benign |
Het |
Kcnj12 |
C |
T |
11: 60,960,703 (GRCm39) |
L334F |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,602,985 (GRCm39) |
Y1057H |
possibly damaging |
Het |
Mycbpap |
T |
C |
11: 94,399,013 (GRCm39) |
|
probably null |
Het |
Myo18b |
A |
G |
5: 112,840,647 (GRCm39) |
L2382P |
probably benign |
Het |
Ngef |
T |
A |
1: 87,405,370 (GRCm39) |
N680I |
probably damaging |
Het |
Nop2 |
A |
G |
6: 125,121,528 (GRCm39) |
H770R |
probably benign |
Het |
Pcdhgc3 |
A |
G |
18: 37,940,729 (GRCm39) |
T377A |
possibly damaging |
Het |
Prl7b1 |
T |
C |
13: 27,788,529 (GRCm39) |
K109E |
probably benign |
Het |
Ptprk |
C |
T |
10: 28,351,166 (GRCm39) |
T553I |
probably damaging |
Het |
Rab3d |
T |
C |
9: 21,821,815 (GRCm39) |
T209A |
probably benign |
Het |
Ralgapa1 |
A |
G |
12: 55,804,709 (GRCm39) |
|
probably null |
Het |
Rspry1 |
T |
C |
8: 95,349,615 (GRCm39) |
M1T |
probably null |
Het |
Sec13 |
G |
T |
6: 113,707,793 (GRCm39) |
P176T |
probably benign |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Slc4a7 |
C |
A |
14: 14,739,836 (GRCm38) |
T236K |
probably benign |
Het |
Svil |
T |
G |
18: 5,106,724 (GRCm39) |
V1855G |
probably damaging |
Het |
Syt2 |
A |
G |
1: 134,675,295 (GRCm39) |
N382S |
probably benign |
Het |
Tm7sf2 |
A |
G |
19: 6,113,416 (GRCm39) |
M345T |
possibly damaging |
Het |
Ubr4 |
T |
G |
4: 139,148,549 (GRCm39) |
C1678G |
probably damaging |
Het |
Urb1 |
A |
G |
16: 90,600,220 (GRCm39) |
S188P |
probably benign |
Het |
Vmn2r82 |
A |
G |
10: 79,221,210 (GRCm39) |
S524G |
probably damaging |
Het |
Wdr19 |
A |
G |
5: 65,379,056 (GRCm39) |
N233S |
probably benign |
Het |
|
Other mutations in Fcnb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00092:Fcnb
|
APN |
2 |
27,966,813 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02130:Fcnb
|
APN |
2 |
27,974,801 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02348:Fcnb
|
APN |
2 |
27,974,842 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02504:Fcnb
|
APN |
2 |
27,966,606 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03118:Fcnb
|
APN |
2 |
27,966,630 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03179:Fcnb
|
APN |
2 |
27,966,646 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0217:Fcnb
|
UTSW |
2 |
27,969,689 (GRCm39) |
missense |
probably benign |
0.02 |
R0899:Fcnb
|
UTSW |
2 |
27,966,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R3901:Fcnb
|
UTSW |
2 |
27,969,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R5845:Fcnb
|
UTSW |
2 |
27,969,633 (GRCm39) |
critical splice donor site |
probably null |
|
R5911:Fcnb
|
UTSW |
2 |
27,966,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R6188:Fcnb
|
UTSW |
2 |
27,969,202 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6488:Fcnb
|
UTSW |
2 |
27,968,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R8058:Fcnb
|
UTSW |
2 |
27,969,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R8194:Fcnb
|
UTSW |
2 |
27,968,330 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8195:Fcnb
|
UTSW |
2 |
27,968,330 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8196:Fcnb
|
UTSW |
2 |
27,968,330 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8198:Fcnb
|
UTSW |
2 |
27,968,330 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8199:Fcnb
|
UTSW |
2 |
27,968,330 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8678:Fcnb
|
UTSW |
2 |
27,968,361 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9224:Fcnb
|
UTSW |
2 |
27,969,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R9261:Fcnb
|
UTSW |
2 |
27,969,636 (GRCm39) |
missense |
probably damaging |
0.99 |
X0024:Fcnb
|
UTSW |
2 |
27,966,703 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCGAGGTCCTGTGTATAGAAGC -3'
(R):5'- ACAAGGCCTCAAGATGGGTG -3'
|
Posted On |
2017-07-14 |