Incidental Mutation 'IGL02646:Fank1'
ID301972
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: 0.122) question?
Stock #IGL02646
Quality Score
Status
Chromosome7
Chromosomal Location133776861-133881532 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 133880029 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065359] [ENSMUST00000067680] [ENSMUST00000121560] [ENSMUST00000151031] [ENSMUST00000209511]
Predicted Effect probably benign
Transcript: ENSMUST00000065359
SMART Domains Protein: ENSMUSP00000069013
Gene: ENSMUSG00000053111

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 benign
Transcript: ENSMUST00000209511
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T A 4: 137,454,790 Y85* probably null Het
Abcg2 A G 6: 58,685,696 I508V probably benign Het
Adgrb2 T C 4: 130,019,282 probably null Het
Api5 T A 2: 94,429,839 H24L possibly damaging Het
Apoh T C 11: 108,412,142 V311A probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Brca2 G T 5: 150,560,790 V2994L possibly damaging Het
Brd1 A T 15: 88,700,877 V918D probably damaging Het
Calr3 T G 8: 72,443,460 D43A possibly damaging Het
Cdh16 T C 8: 104,622,105 probably null Het
Cep192 T C 18: 67,862,477 S2033P probably damaging Het
Dnah7a G A 1: 53,525,035 T1955M probably damaging Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Dync1i1 A G 6: 5,767,034 D86G probably benign Het
Eri2 T C 7: 119,786,108 D390G possibly damaging Het
Hoxb7 A T 11: 96,286,744 Y6F possibly damaging Het
Hspg2 A C 4: 137,551,848 S3081R possibly damaging Het
Kcnt1 T A 2: 25,900,880 probably benign Het
Kdelc2 A G 9: 53,384,251 D51G probably benign Het
Med13 A G 11: 86,283,386 I1762T probably benign Het
Mia2 A G 12: 59,108,836 D445G probably damaging Het
Olfr1099 T C 2: 86,959,353 Y35C probably damaging Het
Plcg2 A T 8: 117,603,883 I827F possibly damaging Het
Rnls C A 19: 33,138,284 probably benign Het
Scn1a A T 2: 66,299,618 probably null Het
Sec22b T A 3: 97,921,245 V208E possibly damaging Het
Slc8a3 A T 12: 81,315,094 I317N probably damaging Het
Snx33 A G 9: 56,926,759 Y9H probably damaging Het
Stard9 C A 2: 120,698,992 T1910N probably damaging Het
Tas2r122 T A 6: 132,711,790 I47F probably damaging Het
Tedc1 T G 12: 113,157,301 L118V possibly damaging Het
Tln2 A T 9: 67,255,996 S1090T probably benign Het
Tpcn2 T C 7: 145,258,574 D511G probably benign Het
Usp21 T C 1: 171,283,095 probably benign Het
Vmn2r17 T A 5: 109,453,080 L748Q probably damaging Het
Zp2 T C 7: 120,135,341 D495G possibly damaging Het
Other mutations in Fank1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01487:Fank1 APN 7 133879909 missense probably damaging 1.00
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 On2015-04-16