Incidental Mutation 'IGL02504:Fcnb'
ID 296226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fcnb
Ensembl Gene ENSMUSG00000026835
Gene Name ficolin B
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02504
Quality Score
Status
Chromosome 2
Chromosomal Location 28076378-28084885 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 28076594 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 309 (M309R)
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: M309R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028179
Gene: ENSMUSG00000026835
AA Change: M309R

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago4 T A 4: 126,517,439 N142I probably benign Het
Asf1b A G 8: 83,955,829 M1V probably null Het
Astn1 T C 1: 158,502,408 C278R probably damaging Het
Ccdc162 A T 10: 41,552,388 L692Q probably damaging Het
Cd207 T A 6: 83,677,806 probably benign Het
Chd5 T A 4: 152,363,322 N548K probably damaging Het
Col7a1 G A 9: 108,980,675 G2659D unknown Het
Cpa6 A T 1: 10,488,919 Y75N probably benign Het
Cspg4 G T 9: 56,885,772 V264L probably benign Het
Cyp3a25 T A 5: 145,993,331 I155L probably benign Het
Dock6 A G 9: 21,846,655 I51T probably benign Het
Dse G T 10: 34,152,800 Q765K probably benign Het
Fam219b A T 9: 57,538,068 M87L probably benign Het
Fat3 G A 9: 15,959,798 R3766C probably damaging Het
Fnbp4 C A 2: 90,768,543 N670K probably damaging Het
Fsip2 T A 2: 82,978,855 N1839K possibly damaging Het
G6pc2 A G 2: 69,226,595 H195R probably damaging Het
Gm14179 A T 11: 99,743,177 Het
Grm5 A G 7: 88,130,772 N1172S probably benign Het
Hsd17b14 A G 7: 45,556,375 T64A possibly damaging Het
Hspb7 G T 4: 141,421,820 E12D probably benign Het
Kdm2a T C 19: 4,356,771 N155D possibly damaging Het
Klhl24 A T 16: 20,115,943 R389* probably null Het
Kmt2b A G 7: 30,586,543 probably benign Het
Krt4 T A 15: 101,919,292 I469F unknown Het
Mto1 A T 9: 78,460,927 D451V probably damaging Het
Muc5b A T 7: 141,846,440 D477V unknown Het
Pcsk5 A G 19: 17,477,872 probably null Het
Ppil4 T A 10: 7,820,984 Y420* probably null Het
Ppp2r5d A T 17: 46,700,093 D27E probably benign Het
Prkd2 T C 7: 16,857,832 L596P probably damaging Het
Prr30 T C 14: 101,198,620 I169V probably benign Het
Rtl9 A T X: 143,102,291 T900S probably benign Het
Sash1 A G 10: 8,729,912 S905P probably benign Het
Scn2a G A 2: 65,683,884 G304D probably benign Het
Scp2d1 T C 2: 144,823,957 L72P probably damaging Het
Sept2 T A 1: 93,500,481 H166Q probably benign Het
Sgcb A G 5: 73,644,375 I49T probably damaging Het
Smyd4 T A 11: 75,390,681 W327R probably damaging Het
Sptbn1 C T 11: 30,142,293 E491K probably damaging Het
Tcaf1 A T 6: 42,679,279 H254Q probably benign Het
Tll1 A C 8: 64,070,237 D480E possibly damaging Het
Tlr3 G A 8: 45,397,907 T127M probably damaging Het
Trio A T 15: 27,847,390 C929* probably null Het
Ttn C T 2: 76,798,150 W12809* probably null Het
Ugt2b35 T A 5: 87,001,541 M217K possibly damaging Het
Unc13b T C 4: 43,263,031 V4261A probably damaging Het
Uqcrc2 T C 7: 120,643,031 I82T probably benign Het
Usp21 A G 1: 171,285,023 I266T probably benign Het
Veph1 A T 3: 66,172,130 H321Q probably damaging Het
Vmn1r29 A C 6: 58,307,670 Y125S probably benign Het
Other mutations in Fcnb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Fcnb APN 2 28076801 missense probably benign 0.04
IGL02130:Fcnb APN 2 28084789 critical splice donor site probably null
IGL02348:Fcnb APN 2 28084830 missense possibly damaging 0.88
IGL03118:Fcnb APN 2 28076618 missense probably benign 0.06
IGL03179:Fcnb APN 2 28076634 missense possibly damaging 0.93
R0217:Fcnb UTSW 2 28079677 missense probably benign 0.02
R0899:Fcnb UTSW 2 28076779 missense probably damaging 1.00
R3901:Fcnb UTSW 2 28079196 missense probably damaging 1.00
R5845:Fcnb UTSW 2 28079621 critical splice donor site probably null
R5911:Fcnb UTSW 2 28076689 missense probably damaging 1.00
R6065:Fcnb UTSW 2 28079910 missense probably damaging 1.00
R6188:Fcnb UTSW 2 28079190 missense possibly damaging 0.94
R6488:Fcnb UTSW 2 28078289 missense probably damaging 1.00
R8058:Fcnb UTSW 2 28079695 missense probably damaging 1.00
R8194:Fcnb UTSW 2 28078318 missense possibly damaging 0.65
R8195:Fcnb UTSW 2 28078318 missense possibly damaging 0.65
R8196:Fcnb UTSW 2 28078318 missense possibly damaging 0.65
R8198:Fcnb UTSW 2 28078318 missense possibly damaging 0.65
R8199:Fcnb UTSW 2 28078318 missense possibly damaging 0.65
R8678:Fcnb UTSW 2 28078349 missense possibly damaging 0.61
R9224:Fcnb UTSW 2 28079148 missense probably damaging 1.00
R9261:Fcnb UTSW 2 28079624 missense probably damaging 0.99
X0024:Fcnb UTSW 2 28076691 missense probably damaging 0.99
Posted On 2015-04-16