Incidental Mutation 'IGL03179:Fcnb'
ID 412150
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fcnb
Ensembl Gene ENSMUSG00000026835
Gene Name ficolin B
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03179
Quality Score
Status
Chromosome 2
Chromosomal Location 27966491-27974921 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27966646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 296 (S296P)
Ref Sequence ENSEMBL: ENSMUSP00000028179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028179] [ENSMUST00000117486] [ENSMUST00000135472]
AlphaFold O70497
Predicted Effect possibly damaging
Transcript: ENSMUST00000028179
AA Change: S296P

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028179
Gene: ENSMUSG00000026835
AA Change: S296P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 T A 14: 78,745,180 (GRCm39) H1736L probably benign Het
App A G 16: 84,879,735 (GRCm39) C133R probably damaging Het
Atxn7l2 G T 3: 108,110,963 (GRCm39) C524* probably null Het
Cckbr T C 7: 105,084,130 (GRCm39) V288A probably benign Het
Ccr1l1 T C 9: 123,777,787 (GRCm39) Y220C probably damaging Het
Cdc42se2 A T 11: 54,614,417 (GRCm39) F47I possibly damaging Het
Cep290 T A 10: 100,403,950 (GRCm39) I2317N possibly damaging Het
Chrnd T C 1: 87,123,502 (GRCm39) S347P probably damaging Het
Clcn5 T A X: 7,029,565 (GRCm39) probably null Het
D6Wsu163e A G 6: 126,927,074 (GRCm39) D187G probably damaging Het
Dnajc13 T A 9: 104,044,634 (GRCm39) I1852F probably benign Het
Ecpas C T 4: 58,832,777 (GRCm39) G861D probably damaging Het
Fut2 C T 7: 45,300,073 (GRCm39) R233K probably benign Het
Gm21985 G A 2: 112,188,900 (GRCm39) V1078I possibly damaging Het
Gpc3 A T X: 51,486,090 (GRCm39) probably benign Het
Krt10 A G 11: 99,280,044 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,584,781 (GRCm39) E370G probably damaging Het
Myo5c A T 9: 75,163,148 (GRCm39) I326F possibly damaging Het
Neb A T 2: 52,066,653 (GRCm39) L5906Q probably damaging Het
Nrdc A T 4: 108,903,888 (GRCm39) probably benign Het
Nrip2 A G 6: 128,381,938 (GRCm39) N17S possibly damaging Het
Or51f2 T C 7: 102,527,279 (GRCm39) probably benign Het
Or6s1 T C 14: 51,308,467 (GRCm39) I128V probably benign Het
P2rx7 A G 5: 122,811,763 (GRCm39) Y358C possibly damaging Het
Pex10 A C 4: 155,152,354 (GRCm39) I61L probably benign Het
Phax T C 18: 56,713,364 (GRCm39) F248L probably damaging Het
Phtf2 A T 5: 20,987,397 (GRCm39) D366E probably damaging Het
Pnpo A G 11: 96,830,085 (GRCm39) Y205H possibly damaging Het
Pparg T A 6: 115,416,833 (GRCm39) W9R probably damaging Het
Ppp4r3c2 G A X: 88,796,434 (GRCm39) G89S possibly damaging Het
Prex1 C T 2: 166,427,114 (GRCm39) S867N probably benign Het
Pyroxd2 T A 19: 42,736,001 (GRCm39) N59I possibly damaging Het
Rnf135 T A 11: 80,084,837 (GRCm39) S203R possibly damaging Het
Sall1 T A 8: 89,758,289 (GRCm39) N605I probably benign Het
Scara3 C T 14: 66,168,603 (GRCm39) R338H probably damaging Het
Slc25a14 T C X: 47,726,317 (GRCm39) S152P probably benign Het
Strip1 A T 3: 107,527,571 (GRCm39) F436I probably damaging Het
Tgfa T C 6: 86,248,403 (GRCm39) L135P probably benign Het
Tgif1 T C 17: 71,151,942 (GRCm39) Q170R possibly damaging Het
Tmc2 G A 2: 130,071,107 (GRCm39) E279K probably damaging Het
Tnks G T 8: 35,315,824 (GRCm39) N987K probably benign Het
Traf3ip3 T C 1: 192,876,676 (GRCm39) E209G probably damaging Het
Vmn2r73 T A 7: 85,519,468 (GRCm39) I497L probably benign Het
Wrn C A 8: 33,800,734 (GRCm39) probably null Het
Zcchc24 T C 14: 25,720,086 (GRCm39) I193V possibly damaging 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
IGL03118:Fcnb APN 2 27,966,630 (GRCm39) missense probably benign 0.06
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