Incidental Mutation 'R3413:Fcna'
ID267788
Institutional Source Beutler Lab
Gene Symbol Fcna
Ensembl Gene ENSMUSG00000026938
Gene Nameficolin A
SynonymsFcn1, ficolin A
MMRRC Submission 040631-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3413 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location25624666-25628030 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to C at 25627493 bp
ZygosityHeterozygous
Amino Acid Change Proline to Alanine at position 49 (P49A)
Ref Sequence ENSEMBL: ENSMUSP00000028307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028307]
Predicted Effect probably damaging
Transcript: ENSMUST00000028307
AA Change: P49A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000028307
Gene: ENSMUSG00000026938
AA Change: P49A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Collagen 48 108 2e-10 PFAM
FBG 121 334 2.18e-110 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135799
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155684
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163217
Meta Mutation Damage Score 0.3634 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 98% (48/49)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal collagen antibody-induced arthritis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T C 8: 9,987,387 probably benign Het
Ap2a2 T A 7: 141,598,776 N105K probably benign Het
Axin1 A G 17: 26,188,038 H535R probably damaging Het
Ccnb3 T A X: 7,007,801 E846D probably benign Het
Cdca7 G A 2: 72,485,287 G365R probably damaging Het
Clvs2 T A 10: 33,622,971 probably benign Het
Coq10a A G 10: 128,365,129 V93A possibly damaging Het
Ddx42 A G 11: 106,247,810 T812A probably benign Het
Eya1 T A 1: 14,274,209 probably null Het
Gckr T A 5: 31,300,867 probably null Het
Golgb1 A G 16: 36,887,347 K68E probably damaging Het
Got1l1 A G 8: 27,199,836 probably null Het
Hip1 T C 5: 135,422,172 E451G probably damaging Het
Hs6st2 C T X: 51,681,455 V50I possibly damaging Het
Ighv1-23 C T 12: 114,764,467 V112I probably benign Het
Map1s A G 8: 70,912,519 N107D probably damaging Het
Mmel1 T A 4: 154,889,586 V361D probably damaging Het
Myh15 A G 16: 49,138,732 D989G probably benign Het
Myo1g G T 11: 6,517,870 H188Q possibly damaging Het
Nup210 G T 6: 91,025,242 Q755K probably benign Het
Olfr114 A G 17: 37,589,696 V219A probably benign Het
Olfr638 A G 7: 104,003,832 M186V probably damaging Het
Pih1h3b T A X: 140,106,021 N216K possibly damaging Het
Plcz1 C T 6: 140,002,081 R525Q probably damaging Het
Ppef2 T G 5: 92,228,722 S649R probably damaging Het
Rusc2 T G 4: 43,415,935 S414A probably damaging Het
Sez6l A G 5: 112,475,361 L108P possibly damaging Het
Slc1a7 A G 4: 108,010,994 E497G probably benign Het
Spag8 T A 4: 43,651,606 S423C probably damaging Het
Sspo C T 6: 48,480,697 R3178C probably damaging Het
St6galnac1 A G 11: 116,765,856 W486R probably damaging Het
Syk A G 13: 52,631,739 D327G probably benign Het
Tbc1d8b C T X: 139,713,391 A391V probably benign Het
Tmed9 A G 13: 55,595,574 E173G probably benign Het
Top1mt T C 15: 75,657,176 N573S probably benign Het
Tusc1 C A 4: 93,334,936 R162L probably damaging Het
Ubn2 A G 6: 38,498,739 T1211A probably benign Het
Unc80 G A 1: 66,639,305 V2082I probably benign Het
Vmn2r63 A G 7: 42,926,982 F469S probably benign Het
Zfp92 C T X: 73,420,294 probably benign Het
Zfyve28 C T 5: 34,199,684 M723I probably benign Het
Zmynd8 A T 2: 165,815,451 M533K probably damaging Het
Other mutations in Fcna
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01945:Fcna APN 2 25627835 start codon destroyed probably null 0.53
IGL02479:Fcna APN 2 25625260 missense probably benign 0.02
IGL02488:Fcna APN 2 25625211 critical splice donor site probably null
IGL02984:Fcna UTSW 2 25630681 unclassified probably benign
IGL02988:Fcna UTSW 2 25630681 unclassified probably benign
IGL02991:Fcna UTSW 2 25630681 unclassified probably benign
IGL03014:Fcna UTSW 2 25630681 unclassified probably benign
IGL03046:Fcna UTSW 2 25630681 unclassified probably benign
IGL03048:Fcna UTSW 2 25630681 unclassified probably benign
IGL03052:Fcna UTSW 2 25630681 unclassified probably benign
IGL03055:Fcna UTSW 2 25630681 unclassified probably benign
IGL03138:Fcna UTSW 2 25630681 unclassified probably benign
R0318:Fcna UTSW 2 25625059 missense probably benign
R0455:Fcna UTSW 2 25625508 missense probably damaging 1.00
R2212:Fcna UTSW 2 25627493 missense probably damaging 1.00
R3414:Fcna UTSW 2 25627493 missense probably damaging 1.00
R3854:Fcna UTSW 2 25627772 missense possibly damaging 0.76
R4007:Fcna UTSW 2 25626006 splice site probably null
R4448:Fcna UTSW 2 25625476 missense probably damaging 1.00
R4782:Fcna UTSW 2 25625326 missense probably damaging 1.00
R4831:Fcna UTSW 2 25625341 missense probably benign 0.11
R7255:Fcna UTSW 2 25626028 missense probably damaging 0.99
R7920:Fcna UTSW 2 25626286 missense probably benign 0.04
R8386:Fcna UTSW 2 25626015 nonsense probably null
R8417:Fcna UTSW 2 25624851 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCCATGTGAGAATTCCCTCTTAC -3'
(R):5'- GGGCAGCCTGAAAACACATC -3'

Sequencing Primer
(F):5'- TTTCCTGGGCTGCCCTGAAAG -3'
(R):5'- GCAGATGTTAAGGTCGTAG -3'
Posted On2015-02-18