Incidental Mutation 'IGL01487:Fank1'
ID88775
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fank1
Ensembl Gene ENSMUSG00000053111
Gene Namefibronectin type 3 and ankyrin repeat domains 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.178) question?
Stock #IGL01487
Quality Score
Status
Chromosome7
Chromosomal Location133776861-133881532 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 133879909 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 245 (T245A)
Ref Sequence ENSEMBL: ENSMUSP00000147964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065359] [ENSMUST00000067680] [ENSMUST00000121560] [ENSMUST00000151031] [ENSMUST00000209511]
Predicted Effect probably damaging
Transcript: ENSMUST00000065359
AA Change: T246A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069013
Gene: ENSMUSG00000053111
AA Change: T246A

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: ENSMUST00000067680
SMART Domains Protein: ENSMUSP00000065213
Gene: ENSMUSG00000054555

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:Pep_M12B_propep 35 165 1.1e-27 PFAM
Pfam:Reprolysin_5 210 392 2.1e-24 PFAM
Pfam:Reprolysin_4 210 408 3.8e-16 PFAM
Pfam:Reprolysin 212 414 1.4e-74 PFAM
Pfam:Reprolysin_2 232 404 6e-18 PFAM
Pfam:Reprolysin_3 236 359 1.3e-16 PFAM
DISIN 431 506 4.29e-42 SMART
ACR 507 650 1.75e-67 SMART
transmembrane domain 705 727 N/A INTRINSIC
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: T245A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A G 6: 88,839,449 V121A probably damaging Het
Carf A G 1: 60,109,379 H17R probably damaging Het
Col5a2 T C 1: 45,376,739 N1416S probably benign Het
Ctsm C A 13: 61,539,069 R3L probably benign Het
Dnah3 G A 7: 119,965,530 Q2626* probably null Het
Dpp3 C T 19: 4,913,892 V587I probably benign Het
Golga5 A G 12: 102,495,696 probably benign Het
Hoxb9 C T 11: 96,274,788 Q228* probably null Het
Invs A G 4: 48,398,136 I441V probably benign Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Psd3 T C 8: 67,697,114 E1243G probably benign Het
Rapgefl1 C T 11: 98,847,135 H392Y probably damaging Het
Ropn1 T C 16: 34,678,469 V209A probably damaging Het
Scap G A 9: 110,377,734 probably null Het
Scn5a A G 9: 119,562,623 M1T probably null Het
Serpinb11 A T 1: 107,379,838 Y333F probably benign Het
Sf3b3 A G 8: 110,817,660 Y783H probably benign Het
Slc4a4 A G 5: 89,228,856 M990V probably benign Het
Syt3 G T 7: 44,390,999 V219F possibly damaging Het
Tmtc4 A G 14: 122,926,031 L647S probably benign Het
Other mutations in Fank1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02646:Fank1 APN 7 133880029 splice site probably benign
IGL02973:Fank1 APN 7 133876849 missense probably damaging 1.00
IGL03309:Fank1 APN 7 133862173 missense probably damaging 0.97
PIT1430001:Fank1 UTSW 7 133876800 nonsense probably null
R0620:Fank1 UTSW 7 133876765 missense probably damaging 1.00
R0863:Fank1 UTSW 7 133880623 missense possibly damaging 0.66
R1997:Fank1 UTSW 7 133862225 missense probably damaging 0.96
R5103:Fank1 UTSW 7 133876841 nonsense probably null
R5264:Fank1 UTSW 7 133879892 missense probably damaging 1.00
R5353:Fank1 UTSW 7 133876903 missense probably damaging 0.99
R5523:Fank1 UTSW 7 133876840 missense probably damaging 1.00
R5579:Fank1 UTSW 7 133869329 synonymous probably null
R5695:Fank1 UTSW 7 133869346 missense probably damaging 1.00
R6226:Fank1 UTSW 7 133862198 missense probably benign 0.05
R6996:Fank1 UTSW 7 133876898 missense possibly damaging 0.95
R7225:Fank1 UTSW 7 133853259 missense probably benign
R7884:Fank1 UTSW 7 133876825 missense probably damaging 1.00
R7967:Fank1 UTSW 7 133876825 missense probably damaging 1.00
Posted On2013-11-18