Incidental Mutation 'IGL02488:Fcna'
ID 295534
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fcna
Ensembl Gene ENSMUSG00000026938
Gene Name ficolin A
Synonyms Fcn1, ficolin A
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02488
Quality Score
Status
Chromosome 2
Chromosomal Location 25514678-25518042 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 25515223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028307] [ENSMUST00000142087]
AlphaFold O70165
Predicted Effect probably null
Transcript: ENSMUST00000028307
SMART Domains Protein: ENSMUSP00000028307
Gene: ENSMUSG00000026938

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 probably benign
Transcript: ENSMUST00000028308
SMART Domains Protein: ENSMUSP00000028308
Gene: ENSMUSG00000026939

DomainStartEndE-ValueType
Pfam:TMEM141 6 94 1.5e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128149
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132348
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136952
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163217
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155893
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155684
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150165
Predicted Effect probably benign
Transcript: ENSMUST00000142087
SMART Domains Protein: ENSMUSP00000121862
Gene: ENSMUSG00000026939

DomainStartEndE-ValueType
Pfam:TMEM141 2 97 1e-43 PFAM
Coding Region Coverage
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 C T 8: 25,282,022 (GRCm39) D417N probably damaging Het
Akr1d1 A T 6: 37,544,095 (GRCm39) E324D probably benign Het
Ankrd34a A G 3: 96,506,229 (GRCm39) I478V probably benign Het
C8b A G 4: 104,661,278 (GRCm39) H498R probably benign Het
Cct6a T G 5: 129,866,885 (GRCm39) probably benign Het
Enpp7 C A 11: 118,879,640 (GRCm39) T98N probably damaging Het
Gtdc1 A G 2: 44,715,451 (GRCm39) Y31H probably benign Het
Gzme A T 14: 56,355,849 (GRCm39) N154K probably benign Het
Hectd4 T C 5: 121,430,150 (GRCm39) V849A probably benign Het
Hps1 C T 19: 42,746,227 (GRCm39) probably benign Het
Incenp A T 19: 9,870,771 (GRCm39) I286N unknown Het
Matn1 G T 4: 130,671,804 (GRCm39) V24F probably benign Het
Mcm3ap A G 10: 76,335,483 (GRCm39) T1302A probably damaging Het
Megf10 A G 18: 57,425,704 (GRCm39) Y1030C probably damaging Het
Mpdu1 T C 11: 69,549,435 (GRCm39) T87A probably damaging Het
Or1j18 T A 2: 36,624,362 (GRCm39) S10T probably benign Het
Or52h1 T A 7: 103,829,478 (GRCm39) I46F possibly damaging Het
Pde6h A G 6: 136,940,264 (GRCm39) probably null Het
Pkhd1l1 A G 15: 44,421,993 (GRCm39) I3088V probably benign Het
Plec G T 15: 76,063,359 (GRCm39) T2259K possibly damaging Het
Ptch2 C T 4: 116,967,593 (GRCm39) R754C probably damaging Het
Ptpn12 T C 5: 21,227,060 (GRCm39) T81A possibly damaging Het
Sars2 C T 7: 28,441,585 (GRCm39) R49* probably null Het
Scyl1 G T 19: 5,820,341 (GRCm39) Y164* probably null Het
Smarcd1 T C 15: 99,609,082 (GRCm39) C419R possibly damaging Het
Syne2 C A 12: 76,012,512 (GRCm39) R2568S probably benign Het
Tap2 A G 17: 34,433,616 (GRCm39) probably benign Het
Thrb T A 14: 18,033,455 (GRCm38) I406K probably damaging Het
Tnn T A 1: 159,968,163 (GRCm39) I410F probably benign Het
Tns2 T C 15: 102,021,178 (GRCm39) S940P probably benign Het
Trav6-2 A G 14: 52,905,243 (GRCm39) K88R probably benign Het
Ttbk2 T C 2: 120,586,352 (GRCm39) M386V probably benign Het
Vldlr A G 19: 27,215,675 (GRCm39) E224G probably damaging Het
Vmn1r46 T A 6: 89,953,963 (GRCm39) C271S probably benign Het
Zfhx2 T C 14: 55,302,560 (GRCm39) E1808G possibly damaging Het
Zfp385a A G 15: 103,228,733 (GRCm39) I42T probably damaging Het
Other mutations in Fcna
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01945:Fcna APN 2 25,517,847 (GRCm39) start codon destroyed probably null 0.53
IGL02479:Fcna APN 2 25,515,272 (GRCm39) missense probably benign 0.02
IGL02984:Fcna UTSW 2 25,520,693 (GRCm39) unclassified probably benign
IGL02988:Fcna UTSW 2 25,520,693 (GRCm39) unclassified probably benign
IGL02991:Fcna UTSW 2 25,520,693 (GRCm39) unclassified probably benign
IGL03014:Fcna UTSW 2 25,520,693 (GRCm39) unclassified probably benign
IGL03046:Fcna UTSW 2 25,520,693 (GRCm39) unclassified probably benign
IGL03048:Fcna UTSW 2 25,520,693 (GRCm39) unclassified probably benign
IGL03052:Fcna UTSW 2 25,520,693 (GRCm39) unclassified probably benign
IGL03055:Fcna UTSW 2 25,520,693 (GRCm39) unclassified probably benign
IGL03138:Fcna UTSW 2 25,520,693 (GRCm39) unclassified probably benign
R0318:Fcna UTSW 2 25,515,071 (GRCm39) missense probably benign
R0455:Fcna UTSW 2 25,515,520 (GRCm39) missense probably damaging 1.00
R2212:Fcna UTSW 2 25,517,505 (GRCm39) missense probably damaging 1.00
R3413:Fcna UTSW 2 25,517,505 (GRCm39) missense probably damaging 1.00
R3414:Fcna UTSW 2 25,517,505 (GRCm39) missense probably damaging 1.00
R3854:Fcna UTSW 2 25,517,784 (GRCm39) missense possibly damaging 0.76
R4007:Fcna UTSW 2 25,516,018 (GRCm39) splice site probably null
R4448:Fcna UTSW 2 25,515,488 (GRCm39) missense probably damaging 1.00
R4782:Fcna UTSW 2 25,515,338 (GRCm39) missense probably damaging 1.00
R4831:Fcna UTSW 2 25,515,353 (GRCm39) missense probably benign 0.11
R7255:Fcna UTSW 2 25,516,040 (GRCm39) missense probably damaging 0.99
R7920:Fcna UTSW 2 25,516,298 (GRCm39) missense probably benign 0.04
R8386:Fcna UTSW 2 25,516,027 (GRCm39) nonsense probably null
R8417:Fcna UTSW 2 25,514,863 (GRCm39) missense probably damaging 1.00
R8829:Fcna UTSW 2 25,516,145 (GRCm39) missense possibly damaging 0.82
R8832:Fcna UTSW 2 25,516,145 (GRCm39) missense possibly damaging 0.82
R9061:Fcna UTSW 2 25,514,956 (GRCm39) missense possibly damaging 0.82
R9339:Fcna UTSW 2 25,517,782 (GRCm39) nonsense probably null
Posted On 2015-04-16