Incidental Mutation 'R0899:Fcnb'
| ID |
83779 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcnb
|
| Ensembl Gene |
ENSMUSG00000026835 |
| Gene Name |
ficolin B |
| Synonyms |
|
| MMRRC Submission |
039059-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0899 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
27966491-27974921 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27966791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 247
(K247N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028179]
[ENSMUST00000117486]
[ENSMUST00000135472]
|
| AlphaFold |
O70497 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028179
AA Change: K247N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000028179
Gene: ENSMUSG00000026835
AA Change: K247N
| 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 benign
Transcript: ENSMUST00000117486
|
| SMART Domains |
Protein: ENSMUSP00000112625
Gene: ENSMUSG00000026835
| 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 benign
Transcript: ENSMUST00000135472
|
| SMART Domains |
Protein: ENSMUSP00000119098
Gene: ENSMUSG00000026835
| 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: 99.7%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 93.6%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
T |
C |
15: 84,833,459 (GRCm39) |
K442E |
probably damaging |
Het |
| Adamts1 |
G |
A |
16: 85,594,940 (GRCm39) |
R340* |
probably null |
Het |
| Afg3l2 |
T |
C |
18: 67,556,047 (GRCm39) |
N428S |
possibly damaging |
Het |
| Aqp12 |
G |
A |
1: 92,934,332 (GRCm39) |
D70N |
probably damaging |
Het |
| Astn1 |
T |
A |
1: 158,338,679 (GRCm39) |
C475* |
probably null |
Het |
| Atp2b1 |
G |
A |
10: 98,852,893 (GRCm39) |
|
probably null |
Het |
| Cbln2 |
T |
C |
18: 86,734,877 (GRCm39) |
S217P |
possibly damaging |
Het |
| Ces2h |
T |
C |
8: 105,741,182 (GRCm39) |
L58P |
probably damaging |
Het |
| Cfap43 |
C |
T |
19: 47,736,433 (GRCm39) |
G1353R |
possibly damaging |
Het |
| Crcp |
A |
G |
5: 130,088,672 (GRCm39) |
M91V |
probably benign |
Het |
| Cubn |
A |
G |
2: 13,367,139 (GRCm39) |
V1577A |
possibly damaging |
Het |
| Dthd1 |
A |
G |
5: 63,000,271 (GRCm39) |
H531R |
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fam3d |
A |
G |
14: 8,364,863 (GRCm38) |
I16T |
probably damaging |
Het |
| Fat2 |
C |
T |
11: 55,147,051 (GRCm39) |
G3982S |
probably damaging |
Het |
| Fbxo44 |
C |
G |
4: 148,240,726 (GRCm39) |
R220S |
probably damaging |
Het |
| Gtf2a1l |
A |
G |
17: 88,976,152 (GRCm39) |
N5S |
|
Het |
| Htr3a |
T |
A |
9: 48,812,752 (GRCm39) |
D229V |
possibly damaging |
Het |
| Ipo11 |
A |
C |
13: 107,037,324 (GRCm39) |
L173* |
probably null |
Het |
| Jam3 |
C |
A |
9: 27,010,253 (GRCm39) |
G244W |
probably damaging |
Het |
| Lypd11 |
C |
T |
7: 24,422,737 (GRCm39) |
R112H |
probably benign |
Het |
| Mrpl52 |
C |
T |
14: 54,664,541 (GRCm39) |
R12* |
probably null |
Het |
| Myo15a |
A |
G |
11: 60,368,011 (GRCm39) |
Y257C |
possibly damaging |
Het |
| Myocd |
G |
A |
11: 65,086,018 (GRCm39) |
P215L |
possibly damaging |
Het |
| Ndst1 |
T |
C |
18: 60,840,954 (GRCm39) |
T243A |
probably benign |
Het |
| Obox5 |
A |
T |
7: 15,492,800 (GRCm39) |
T252S |
probably benign |
Het |
| Or5m13b |
A |
G |
2: 85,753,731 (GRCm39) |
T40A |
probably benign |
Het |
| Or6c75 |
T |
C |
10: 129,337,301 (GRCm39) |
F183L |
probably damaging |
Het |
| Or7g34 |
A |
C |
9: 19,477,843 (GRCm39) |
V276G |
probably damaging |
Het |
| Osbpl1a |
T |
C |
18: 12,890,747 (GRCm39) |
S377G |
possibly damaging |
Het |
| Pfkl |
A |
G |
10: 77,841,273 (GRCm39) |
|
probably null |
Het |
| Prdm16 |
A |
T |
4: 154,613,366 (GRCm39) |
N20K |
probably damaging |
Het |
| Prkd1 |
A |
G |
12: 50,431,976 (GRCm39) |
I589T |
probably damaging |
Het |
| Scnn1b |
G |
A |
7: 121,516,938 (GRCm39) |
G525S |
probably damaging |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,718,329 (GRCm39) |
|
probably benign |
Het |
| Wap |
T |
C |
11: 6,586,725 (GRCm39) |
T125A |
probably benign |
Het |
| Wdr86 |
C |
T |
5: 24,923,005 (GRCm39) |
R229Q |
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 |
|
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 |
|
R6065:Fcnb
|
UTSW |
2 |
27,969,922 (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'- CCGCACCTTCATCTCAGAAACCTTG -3'
(R):5'- CAGTCCTGGTGATGCTGTTCAGAG -3'
Sequencing Primer
(F):5'- AGGTAGAGGCCATTCAGGTT -3'
(R):5'- AACCAGGACTTGCTGGAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation