Incidental Mutation 'IGL03118:Fcnb'
ID 409881
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fcnb
Ensembl Gene ENSMUSG00000026835
Gene Name ficolin B
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03118
Quality Score
Chromosome 2
Chromosomal Location 27966491-27974921 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27966630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 301 (N301S)
Ref Sequence ENSEMBL: ENSMUSP00000028179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028179] [ENSMUST00000117486] [ENSMUST00000135472]
AlphaFold O70497
Predicted Effect probably benign
Transcript: ENSMUST00000028179
AA Change: N301S

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000028179
Gene: ENSMUSG00000026835
AA Change: N301S

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

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

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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,619,424 (GRCm39) G921S probably benign Het
Abca8b T C 11: 109,838,007 (GRCm39) T1082A possibly damaging Het
B9d2 T C 7: 25,380,901 (GRCm39) probably null Het
Bfsp1 T C 2: 143,669,253 (GRCm39) E442G possibly damaging Het
Bpifb5 C T 2: 154,078,673 (GRCm39) probably benign Het
Ccl1 A G 11: 82,068,896 (GRCm39) I47T probably damaging Het
Cln3 T C 7: 126,174,569 (GRCm39) I285V probably null Het
Cyp4a12b G T 4: 115,290,173 (GRCm39) R242I possibly damaging Het
Dcc T C 18: 71,553,344 (GRCm39) T771A probably benign Het
Erbb4 T C 1: 68,081,878 (GRCm39) D1052G probably benign Het
Gm28043 A C 17: 29,853,705 (GRCm39) E403A probably damaging Het
Gria4 A G 9: 4,793,804 (GRCm39) probably benign Het
Ighv5-12 T A 12: 113,666,198 (GRCm39) M1L probably benign Het
Il17rd A G 14: 26,815,352 (GRCm39) probably null Het
Kcnn3 T A 3: 89,574,468 (GRCm39) L660Q probably damaging Het
Lcor C T 19: 41,546,808 (GRCm39) P131S probably damaging Het
Leng1 T C 7: 3,668,409 (GRCm39) N13S probably damaging Het
Loxhd1 T C 18: 77,468,160 (GRCm39) V827A probably damaging Het
Mapk13 A G 17: 28,996,709 (GRCm39) Y208C probably benign Het
Mybpc3 T C 2: 90,954,848 (GRCm39) V453A probably damaging Het
Odam T C 5: 88,033,613 (GRCm39) S15P unknown Het
Or11l3 A T 11: 58,516,269 (GRCm39) V201D probably damaging Het
Or8d1 A T 9: 38,766,526 (GRCm39) H56L probably damaging Het
Pcdhb19 T C 18: 37,632,618 (GRCm39) probably benign Het
Per2 G T 1: 91,372,341 (GRCm39) Y244* probably null Het
Pik3ca A T 3: 32,514,084 (GRCm39) I857F probably damaging Het
Pold1 T A 7: 44,188,824 (GRCm39) I447F probably benign Het
Ppm1f T A 16: 16,731,942 (GRCm39) W131R probably null Het
Ppp2r2c A G 5: 37,083,660 (GRCm39) Y67C probably damaging Het
Psmb10 A T 8: 106,663,532 (GRCm39) H155Q probably damaging Het
Ptbp3 G A 4: 59,501,470 (GRCm39) A149V probably benign Het
Pygb T A 2: 150,662,731 (GRCm39) V566E probably benign Het
Rictor G A 15: 6,788,999 (GRCm39) R205Q possibly damaging Het
Ryr1 T A 7: 28,715,211 (GRCm39) R4638W unknown Het
Semp2l2a C T 8: 13,888,096 (GRCm39) probably benign Het
Septin3 G A 15: 82,168,715 (GRCm39) probably null Het
Serpina3b A T 12: 104,097,313 (GRCm39) D198V probably benign Het
Slc27a6 C A 18: 58,689,815 (GRCm39) H94N probably benign Het
Taf2 C T 15: 54,915,559 (GRCm39) V456M probably damaging Het
Tbpl2 T C 2: 23,977,301 (GRCm39) E238G probably benign Het
Ttn C T 2: 76,584,551 (GRCm39) V20440I possibly damaging Het
Zfp638 T A 6: 83,912,000 (GRCm39) probably benign Het
Zfp865 T C 7: 5,037,644 (GRCm39) probably benign Het
Other mutations in Fcnb
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2016-08-02