|Institutional Source||Beutler Lab|
|Gene Name||ficolin B|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0899 (G1)|
|Chromosomal Location||28076378-28084885 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 28076779 bp (GRCm38)|
|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]|
AA Change: K247N
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: K247N
|Coding Region Coverage||
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||
|Other mutations in Fcnb||
(F):5'- CCGCACCTTCATCTCAGAAACCTTG -3'
(R):5'- CAGTCCTGGTGATGCTGTTCAGAG -3'
(F):5'- AGGTAGAGGCCATTCAGGTT -3'
(R):5'- AACCAGGACTTGCTGGAC -3'