Incidental Mutation 'R3901:Fcnb'
| ID |
308965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fcnb
|
| Ensembl Gene |
ENSMUSG00000026835 |
| Gene Name |
ficolin B |
| Synonyms |
|
| MMRRC Submission |
040810-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3901 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
27966491-27974921 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27969208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 163
(Y163F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112625
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028179]
[ENSMUST00000117486]
[ENSMUST00000135472]
|
| AlphaFold |
O70497 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028179
AA Change: Y163F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028179
Gene: ENSMUSG00000026835
AA Change: Y163F
| 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: Y163F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112625
Gene: ENSMUSG00000026835
AA Change: Y163F
| 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 |
|
| Meta Mutation Damage Score |
0.7163 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
98% (39/40) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
T |
A |
15: 94,226,726 (GRCm39) |
D1109V |
possibly damaging |
Het |
| Apc2 |
G |
C |
10: 80,150,922 (GRCm39) |
R1992P |
possibly damaging |
Het |
| Atmin |
A |
G |
8: 117,683,036 (GRCm39) |
N232S |
probably benign |
Het |
| Brat1 |
A |
C |
5: 140,703,751 (GRCm39) |
D668A |
possibly damaging |
Het |
| Casp16 |
A |
T |
17: 23,771,922 (GRCm39) |
V101E |
probably damaging |
Het |
| Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Clec7a |
A |
G |
6: 129,445,877 (GRCm39) |
S98P |
possibly damaging |
Het |
| Cpne5 |
G |
A |
17: 29,378,082 (GRCm39) |
R566C |
unknown |
Het |
| Csrnp1 |
C |
T |
9: 119,801,707 (GRCm39) |
E451K |
probably damaging |
Het |
| Dlst |
A |
G |
12: 85,179,465 (GRCm39) |
T435A |
possibly damaging |
Het |
| Dock8 |
A |
G |
19: 25,078,269 (GRCm39) |
T525A |
possibly damaging |
Het |
| Dync2li1 |
A |
G |
17: 84,939,070 (GRCm39) |
T45A |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,974,713 (GRCm39) |
N5307S |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,357,539 (GRCm39) |
Y820H |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,003,798 (GRCm39) |
T198A |
probably benign |
Het |
| Fbn2 |
T |
A |
18: 58,199,083 (GRCm39) |
N1395I |
probably damaging |
Het |
| Gm5444 |
T |
C |
13: 4,884,278 (GRCm39) |
|
noncoding transcript |
Het |
| Jph3 |
G |
T |
8: 122,480,158 (GRCm39) |
D279Y |
possibly damaging |
Het |
| Kcnj3 |
A |
G |
2: 55,327,360 (GRCm39) |
N50D |
possibly damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,555,323 (GRCm39) |
I416T |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Kmt2e |
A |
G |
5: 23,706,640 (GRCm39) |
N1401S |
probably benign |
Het |
| Lama5 |
C |
T |
2: 179,824,144 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
G |
2: 40,712,707 (GRCm39) |
V3095A |
probably damaging |
Het |
| Mmp1a |
A |
G |
9: 7,475,346 (GRCm39) |
*372W |
probably null |
Het |
| Or7d11 |
C |
T |
9: 19,966,169 (GRCm39) |
V197I |
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,353,169 (GRCm39) |
N986K |
probably benign |
Het |
| Pgap1 |
C |
T |
1: 54,532,507 (GRCm39) |
V671I |
probably benign |
Het |
| Pla2g4e |
T |
C |
2: 119,999,085 (GRCm39) |
S760G |
probably benign |
Het |
| Plk3 |
T |
C |
4: 116,990,633 (GRCm39) |
I94V |
probably benign |
Het |
| Pogk |
C |
T |
1: 166,231,193 (GRCm39) |
V45I |
probably damaging |
Het |
| Pou2f1 |
G |
C |
1: 165,722,538 (GRCm39) |
P349R |
probably damaging |
Het |
| Rims1 |
T |
A |
1: 22,572,578 (GRCm39) |
Q541L |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,305,664 (GRCm39) |
Q999R |
probably benign |
Het |
| Stxbp5 |
A |
G |
10: 9,645,163 (GRCm39) |
L911P |
probably damaging |
Het |
| Tgfbr3 |
A |
G |
5: 107,362,753 (GRCm39) |
|
probably benign |
Het |
| Trim7 |
A |
T |
11: 48,728,435 (GRCm39) |
T28S |
probably damaging |
Het |
| Zfp595 |
T |
C |
13: 67,465,379 (GRCm39) |
I295V |
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 |
|
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'- TTAGAGGAGGCCCTTATCCC -3'
(R):5'- GCCATGACCTGTTTATGGCAC -3'
Sequencing Primer
(F):5'- TGACTTTCACCCAGCAGAAGG -3'
(R):5'- ATGGCACTAGGTTCCCAGTC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation