Incidental Mutation 'IGL02973:Fank1'
ID 365904
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fank1
Ensembl Gene ENSMUSG00000053111
Gene Name fibronectin type 3 and ankyrin repeat domains 1
Synonyms 1700007B22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.203) question?
Stock # IGL02973
Quality Score
Status
Chromosome 7
Chromosomal Location 133378594-133483261 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133478578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 213 (L213P)
Ref Sequence ENSEMBL: ENSMUSP00000147964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065359] [ENSMUST00000121560] [ENSMUST00000151031] [ENSMUST00000209511]
AlphaFold Q9DAM9
Predicted Effect probably damaging
Transcript: ENSMUST00000065359
AA Change: L214P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069013
Gene: ENSMUSG00000053111
AA Change: L214P

DomainStartEndE-ValueType
FN3 9 94 4.74e-3 SMART
Blast:ANK 109 139 1e-9 BLAST
ANK 143 172 1.4e-4 SMART
ANK 176 205 3.18e-3 SMART
ANK 209 238 1.48e-3 SMART
ANK 243 273 2.5e-1 SMART
ANK 277 306 3.33e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121560
SMART Domains Protein: ENSMUSP00000114136
Gene: ENSMUSG00000053111

DomainStartEndE-ValueType
PDB:1WFU|A 1 66 3e-43 PDB
Blast:FN3 9 66 3e-35 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000151031
SMART Domains Protein: ENSMUSP00000119929
Gene: ENSMUSG00000053111

DomainStartEndE-ValueType
Blast:FN3 1 39 6e-20 BLAST
PDB:1WFU|A 1 52 3e-30 PDB
Blast:ANK 54 84 2e-10 BLAST
ANK 88 117 1.4e-4 SMART
ANK 121 150 3.18e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000209511
AA Change: L213P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada A G 2: 163,573,053 (GRCm39) L193P probably benign Het
Ago2 A T 15: 72,995,314 (GRCm39) probably benign Het
Ankrd26 A G 6: 118,500,511 (GRCm39) S987P probably damaging Het
Ap2a2 T C 7: 141,211,277 (GRCm39) F938L possibly damaging Het
Arhgap35 A G 7: 16,296,803 (GRCm39) V754A possibly damaging Het
Atp10b A T 11: 43,088,336 (GRCm39) N314I probably damaging Het
Atp5f1a T C 18: 77,867,849 (GRCm39) V291A probably damaging Het
Ccm2 C A 11: 6,534,544 (GRCm39) P19T probably damaging Het
Cdc5l C A 17: 45,715,573 (GRCm39) A680S probably benign Het
Cds1 A G 5: 101,960,376 (GRCm39) T276A probably damaging Het
Cit A G 5: 116,144,058 (GRCm39) R1976G possibly damaging Het
Col6a5 T C 9: 105,803,020 (GRCm39) D1315G unknown Het
Emilin1 T G 5: 31,078,007 (GRCm39) L922R probably damaging Het
Foxc2 T C 8: 121,844,788 (GRCm39) S479P probably benign Het
Golgb1 G A 16: 36,732,442 (GRCm39) R563H possibly damaging Het
Hoxb13 A G 11: 96,085,669 (GRCm39) Y134C probably damaging Het
Krtap4-16 A T 11: 99,742,167 (GRCm39) C78S possibly damaging Het
Lars1 C T 18: 42,347,824 (GRCm39) probably null Het
Lipe T C 7: 25,083,057 (GRCm39) N740S probably damaging Het
Mbd1 C T 18: 74,408,498 (GRCm39) probably benign Het
Mbd5 A G 2: 49,203,721 (GRCm39) D1700G probably damaging Het
Mpp7 A G 18: 7,403,297 (GRCm39) Y338H probably damaging Het
Pdgfrl A G 8: 41,438,631 (GRCm39) D189G probably damaging Het
Pira12 T C 7: 3,900,239 (GRCm39) Y121C probably damaging Het
Plxnc1 T C 10: 94,646,546 (GRCm39) N1293S probably damaging Het
Ppm1e C A 11: 87,131,488 (GRCm39) A302S probably damaging Het
Rassf8 A G 6: 145,762,916 (GRCm39) probably benign Het
Rttn T C 18: 88,990,618 (GRCm39) W52R probably damaging Het
Skint8 T C 4: 111,796,790 (GRCm39) V298A probably benign Het
Tulp1 A T 17: 28,577,516 (GRCm39) probably benign Het
Unc5c T A 3: 141,494,651 (GRCm39) D321E probably benign Het
Usp16 G A 16: 87,276,627 (GRCm39) C654Y probably damaging Het
Vwce G A 19: 10,632,764 (GRCm39) W575* probably null Het
Wdr89 T G 12: 75,679,873 (GRCm39) D127A probably damaging Het
Zc3h6 G A 2: 128,839,715 (GRCm39) R176Q probably damaging Het
Zfp942 A G 17: 22,151,972 (GRCm39) probably null Het
Other mutations in Fank1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01487:Fank1 APN 7 133,481,638 (GRCm39) missense probably damaging 1.00
IGL02646:Fank1 APN 7 133,481,758 (GRCm39) splice site probably benign
IGL03309:Fank1 APN 7 133,463,902 (GRCm39) missense probably damaging 0.97
PIT1430001:Fank1 UTSW 7 133,478,529 (GRCm39) nonsense probably null
R0620:Fank1 UTSW 7 133,478,494 (GRCm39) missense probably damaging 1.00
R0863:Fank1 UTSW 7 133,482,352 (GRCm39) missense possibly damaging 0.66
R1997:Fank1 UTSW 7 133,463,954 (GRCm39) missense probably damaging 0.96
R5103:Fank1 UTSW 7 133,478,570 (GRCm39) nonsense probably null
R5264:Fank1 UTSW 7 133,481,621 (GRCm39) missense probably damaging 1.00
R5353:Fank1 UTSW 7 133,478,632 (GRCm39) missense probably damaging 0.99
R5523:Fank1 UTSW 7 133,478,569 (GRCm39) missense probably damaging 1.00
R5579:Fank1 UTSW 7 133,471,058 (GRCm39) splice site probably null
R5695:Fank1 UTSW 7 133,471,075 (GRCm39) missense probably damaging 1.00
R6226:Fank1 UTSW 7 133,463,927 (GRCm39) missense probably benign 0.05
R6996:Fank1 UTSW 7 133,478,627 (GRCm39) missense possibly damaging 0.95
R7225:Fank1 UTSW 7 133,454,988 (GRCm39) missense probably benign
R7884:Fank1 UTSW 7 133,478,554 (GRCm39) missense probably damaging 1.00
R8086:Fank1 UTSW 7 133,454,959 (GRCm39) missense possibly damaging 0.85
R8282:Fank1 UTSW 7 133,478,493 (GRCm39) missense probably damaging 1.00
R8678:Fank1 UTSW 7 133,463,957 (GRCm39) critical splice donor site probably null
R9787:Fank1 UTSW 7 133,463,887 (GRCm39) missense probably damaging 0.96
Posted On 2015-12-18