Incidental Mutation 'R6065:Fcnb'
ID 483996
Institutional Source Beutler Lab
Gene Symbol Fcnb
Ensembl Gene ENSMUSG00000026835
Gene Name ficolin B
Synonyms
MMRRC Submission 044229-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6065 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 27966491-27974921 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 27969922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 106 (C106G)
Ref Sequence ENSEMBL: ENSMUSP00000119098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028179] [ENSMUST00000117486] [ENSMUST00000135472]
AlphaFold O70497
Predicted Effect probably benign
Transcript: ENSMUST00000028179
AA Change: C99G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000028179
Gene: ENSMUSG00000026835
AA Change: C99G

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 damaging
Transcript: ENSMUST00000117486
AA Change: C99G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112625
Gene: ENSMUSG00000026835
AA Change: C99G

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 damaging
Transcript: ENSMUST00000135472
AA Change: C106G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119098
Gene: ENSMUSG00000026835
AA Change: C106G

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.3%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff1 T C 5: 103,990,118 (GRCm39) S871P probably damaging Het
Ccdc150 T C 1: 54,302,758 (GRCm39) I126T possibly damaging Het
Ccdc87 A T 19: 4,891,268 (GRCm39) M587L probably benign Het
Cd300ld2 G A 11: 114,903,428 (GRCm39) probably benign Het
Chsy3 GT G 18: 59,309,238 (GRCm39) 163 probably null Het
Dchs1 T C 7: 105,404,628 (GRCm39) D2638G probably damaging Het
Dnah5 A T 15: 28,230,614 (GRCm39) I171F possibly damaging Het
Dnah9 T C 11: 65,746,164 (GRCm39) D3983G probably benign Het
Dnah9 A G 11: 66,036,223 (GRCm39) S396P possibly damaging Het
Fbxw15 T A 9: 109,397,246 (GRCm39) D18V probably damaging Het
Firrm A T 1: 163,786,957 (GRCm39) L704Q probably benign Het
Firrm A G 1: 163,815,257 (GRCm39) M88T probably damaging Het
Gm3453 T C 14: 5,978,233 (GRCm38) T57A probably damaging Het
Grin2a T C 16: 9,579,771 (GRCm39) D164G possibly damaging Het
Hmcn1 C T 1: 150,646,081 (GRCm39) V706I probably benign Het
Kcnj12 C T 11: 60,960,703 (GRCm39) L334F probably damaging Het
Lama3 T C 18: 12,602,985 (GRCm39) Y1057H possibly damaging Het
Mycbpap T C 11: 94,399,013 (GRCm39) probably null Het
Myo18b A G 5: 112,840,647 (GRCm39) L2382P probably benign Het
Ngef T A 1: 87,405,370 (GRCm39) N680I probably damaging Het
Nop2 A G 6: 125,121,528 (GRCm39) H770R probably benign Het
Pcdhgc3 A G 18: 37,940,729 (GRCm39) T377A possibly damaging Het
Prl7b1 T C 13: 27,788,529 (GRCm39) K109E probably benign Het
Ptprk C T 10: 28,351,166 (GRCm39) T553I probably damaging Het
Rab3d T C 9: 21,821,815 (GRCm39) T209A probably benign Het
Ralgapa1 A G 12: 55,804,709 (GRCm39) probably null Het
Rspry1 T C 8: 95,349,615 (GRCm39) M1T probably null Het
Sec13 G T 6: 113,707,793 (GRCm39) P176T probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc4a7 C A 14: 14,739,836 (GRCm38) T236K probably benign Het
Svil T G 18: 5,106,724 (GRCm39) V1855G probably damaging Het
Syt2 A G 1: 134,675,295 (GRCm39) N382S probably benign Het
Tm7sf2 A G 19: 6,113,416 (GRCm39) M345T possibly damaging Het
Ubr4 T G 4: 139,148,549 (GRCm39) C1678G probably damaging Het
Urb1 A G 16: 90,600,220 (GRCm39) S188P probably benign Het
Vmn2r82 A G 10: 79,221,210 (GRCm39) S524G probably damaging Het
Wdr19 A G 5: 65,379,056 (GRCm39) N233S 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
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
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
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'- TCCGAGGTCCTGTGTATAGAAGC -3'
(R):5'- ACAAGGCCTCAAGATGGGTG -3'

Posted On 2017-07-14