Incidental Mutation 'IGL00507:Fkbp9'
ID 5445
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fkbp9
Ensembl Gene ENSMUSG00000029781
Gene Name FK506 binding protein 9
Synonyms FKBP60, FKBP63
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # IGL00507
Quality Score
Status
Chromosome 6
Chromosomal Location 56809044-56856343 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56827686 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 169 (V169E)
Ref Sequence ENSEMBL: ENSMUSP00000031795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031795]
AlphaFold Q9Z247
Predicted Effect probably damaging
Transcript: ENSMUST00000031795
AA Change: V169E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031795
Gene: ENSMUSG00000029781
AA Change: V169E

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:FKBP_C 47 139 8.2e-31 PFAM
Pfam:FKBP_C 159 251 5.8e-28 PFAM
Pfam:FKBP_C 271 362 1.3e-27 PFAM
Pfam:FKBP_C 382 474 2.8e-27 PFAM
EFh 492 520 2.35e0 SMART
EFh 537 565 1.98e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147159
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 C T 9: 54,529,712 (GRCm39) probably benign Het
Adgrb3 T A 1: 25,113,796 (GRCm39) R1450S possibly damaging Het
Apc A G 18: 34,449,979 (GRCm39) I2258V probably benign Het
Atxn2l C A 7: 126,095,756 (GRCm39) A374S possibly damaging Het
Cacna1a T A 8: 85,297,837 (GRCm39) Y1182* probably null Het
Cc2d1b G T 4: 108,486,927 (GRCm39) A647S probably damaging Het
Csn2 A G 5: 87,842,632 (GRCm39) S116P probably benign Het
Eya4 G A 10: 23,033,434 (GRCm39) Q163* probably null Het
Fam47c A T X: 77,781,931 (GRCm39) D171V probably benign Het
Fhdc1 A T 3: 84,356,107 (GRCm39) C446S probably damaging Het
Fras1 A T 5: 96,926,048 (GRCm39) I3751F probably damaging Het
Gkn1 T C 6: 87,323,321 (GRCm39) Y164C probably damaging Het
Hs3st5 T C 10: 36,708,918 (GRCm39) I151T probably benign Het
Ighv8-6 A T 12: 115,129,472 (GRCm39) S95T probably damaging Het
Loxhd1 A G 18: 77,420,263 (GRCm39) I296V probably benign Het
Lrrc66 T C 5: 73,764,457 (GRCm39) E862G probably benign Het
Ltbp3 T C 19: 5,806,044 (GRCm39) V934A probably damaging Het
Mpp3 A T 11: 101,892,929 (GRCm39) I501K possibly damaging Het
Mroh2b C T 15: 4,991,609 (GRCm39) T1569I probably damaging Het
Nup133 A T 8: 124,645,706 (GRCm39) Y626* probably null Het
Pak3 T A X: 142,572,329 (GRCm39) N477K probably damaging Het
Plod3 A G 5: 137,025,030 (GRCm39) H714R possibly damaging Het
Ppil1 T C 17: 29,470,675 (GRCm39) N102S probably damaging Het
Rapgef6 A T 11: 54,554,935 (GRCm39) R996* probably null Het
Scd3 G A 19: 44,224,273 (GRCm39) D169N probably damaging Het
Sgo2a T A 1: 58,055,753 (GRCm39) F646I probably damaging Het
Slc5a8 A G 10: 88,743,902 (GRCm39) Y346C possibly damaging Het
Slc7a15 A T 12: 8,585,474 (GRCm39) V49E probably damaging Het
Stard8 G A X: 98,112,941 (GRCm39) E649K probably damaging Het
Other mutations in Fkbp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01398:Fkbp9 APN 6 56,837,790 (GRCm39) splice site probably benign
IGL02619:Fkbp9 APN 6 56,827,609 (GRCm39) missense probably damaging 0.99
IGL03349:Fkbp9 APN 6 56,826,703 (GRCm39) missense probably damaging 1.00
R0244:Fkbp9 UTSW 6 56,833,363 (GRCm39) nonsense probably null
R0732:Fkbp9 UTSW 6 56,855,089 (GRCm39) missense probably benign
R1137:Fkbp9 UTSW 6 56,837,682 (GRCm39) missense probably damaging 1.00
R1660:Fkbp9 UTSW 6 56,850,434 (GRCm39) missense probably damaging 1.00
R3862:Fkbp9 UTSW 6 56,845,890 (GRCm39) missense probably benign 0.27
R4597:Fkbp9 UTSW 6 56,809,367 (GRCm39) missense probably damaging 1.00
R4780:Fkbp9 UTSW 6 56,827,701 (GRCm39) missense probably damaging 0.96
R4803:Fkbp9 UTSW 6 56,852,692 (GRCm39) missense probably benign 0.03
R4928:Fkbp9 UTSW 6 56,826,655 (GRCm39) missense possibly damaging 0.52
R5793:Fkbp9 UTSW 6 56,850,498 (GRCm39) critical splice donor site probably null
R7336:Fkbp9 UTSW 6 56,826,712 (GRCm39) missense probably damaging 1.00
R7524:Fkbp9 UTSW 6 56,845,725 (GRCm39) missense probably damaging 1.00
R7921:Fkbp9 UTSW 6 56,828,370 (GRCm39) missense probably damaging 0.99
R8085:Fkbp9 UTSW 6 56,833,289 (GRCm39) missense probably benign
R9173:Fkbp9 UTSW 6 56,850,389 (GRCm39) missense possibly damaging 0.61
R9222:Fkbp9 UTSW 6 56,852,677 (GRCm39) missense probably damaging 1.00
R9777:Fkbp9 UTSW 6 56,855,181 (GRCm39) missense possibly damaging 0.55
Posted On 2012-04-20