Incidental Mutation 'IGL02727:Fkbp11'
ID 305265
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fkbp11
Ensembl Gene ENSMUSG00000003355
Gene Name FK506 binding protein 11
Synonyms 1110002O23Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.577) question?
Stock # IGL02727
Quality Score
Status
Chromosome 15
Chromosomal Location 98622249-98626079 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98622471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 134 (V134E)
Ref Sequence ENSEMBL: ENSMUSP00000003445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003444] [ENSMUST00000003445]
AlphaFold Q9D1M7
Predicted Effect probably benign
Transcript: ENSMUST00000003444
SMART Domains Protein: ENSMUSP00000003444
Gene: ENSMUSG00000003354

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
Pfam:NYD-SP28 27 127 9.8e-32 PFAM
low complexity region 129 141 N/A INTRINSIC
coiled coil region 255 282 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000003445
AA Change: V134E

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000003445
Gene: ENSMUSG00000003355
AA Change: V134E

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:FKBP_C 50 141 2.5e-26 PFAM
transmembrane domain 155 177 N/A INTRINSIC
low complexity region 178 201 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229562
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230743
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FKBP11 belongs to the FKBP family of peptidyl-prolyl cis/trans isomerases, which catalyze the folding of proline-containing polypeptides. The peptidyl-prolyl isomerase activity of FKBP proteins is inhibited by the immunosuppressant compounds FK506 and rapamycin (Rulten et al., 2006 [PubMed 16596453]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for disruptions of this gene display increased antibody response to antibody challenge and increased inflammatory responses. Measurements of bone density are also increased. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T C 1: 53,226,724 (GRCm39) T13A probably benign Het
Aldh1l2 T A 10: 83,342,469 (GRCm39) K447I probably damaging Het
Ankrd17 A G 5: 90,392,151 (GRCm39) S1840P possibly damaging Het
Ash1l A G 3: 88,930,344 (GRCm39) I1940M probably benign Het
Bfar T G 16: 13,506,791 (GRCm39) probably null Het
Bicra G T 7: 15,713,390 (GRCm39) H937Q possibly damaging Het
Brip1 A T 11: 86,043,562 (GRCm39) M334K probably benign Het
Camsap2 T G 1: 136,232,050 (GRCm39) M182L probably benign Het
Chd6 A T 2: 160,811,383 (GRCm39) C1407S probably damaging Het
Cmya5 A G 13: 93,234,753 (GRCm39) S112P possibly damaging Het
Csmd1 A T 8: 16,281,341 (GRCm39) V728E probably damaging Het
Cyp2j6 T A 4: 96,434,001 (GRCm39) Q103L probably benign Het
Ddias A T 7: 92,515,830 (GRCm39) I21K probably damaging Het
Derl2 A C 11: 70,904,036 (GRCm39) probably benign Het
Dgka A T 10: 128,558,317 (GRCm39) probably benign Het
Dusp11 T C 6: 85,938,474 (GRCm39) D15G probably damaging Het
Enpp2 T C 15: 54,773,577 (GRCm39) D110G probably damaging Het
Gm3248 T C 14: 5,945,036 (GRCm38) T49A probably damaging Het
Gm57858 T A 3: 36,087,065 (GRCm39) R176S possibly damaging Het
Irag2 T C 6: 145,120,344 (GRCm39) S520P possibly damaging Het
Luzp2 T C 7: 54,821,939 (GRCm39) probably benign Het
Manea C A 4: 26,328,127 (GRCm39) E305* probably null Het
Manea T A 4: 26,328,126 (GRCm39) E305V probably damaging Het
Megf6 A G 4: 154,337,606 (GRCm39) probably null Het
Mrpl3 G T 9: 104,931,726 (GRCm39) D59Y probably damaging Het
Myh9 T C 15: 77,675,942 (GRCm39) Y248C probably benign Het
Nbeal2 G A 9: 110,468,353 (GRCm39) probably benign Het
Or10a5 G T 7: 106,635,902 (GRCm39) C180F probably damaging Het
Or1f19 T A 16: 3,411,190 (GRCm39) I310K probably benign Het
Or2y1c G T 11: 49,361,893 (GRCm39) G305V probably benign Het
Or8b40 A G 9: 38,027,808 (GRCm39) T239A probably damaging Het
Pax8 C A 2: 24,331,642 (GRCm39) C147F probably damaging Het
Phf12 T C 11: 77,914,493 (GRCm39) V96A possibly damaging Het
Psg18 A T 7: 18,079,875 (GRCm39) I442K probably damaging Het
Pygl T A 12: 70,254,442 (GRCm39) probably null Het
Rassf2 C A 2: 131,846,307 (GRCm39) R150L probably benign Het
Rdh7 A T 10: 127,723,487 (GRCm39) W123R probably damaging Het
Saal1 T C 7: 46,339,223 (GRCm39) probably null Het
Sall1 T C 8: 89,757,383 (GRCm39) D907G probably damaging Het
Spag1 T A 15: 36,234,964 (GRCm39) F876I probably damaging Het
Syncrip G A 9: 88,361,932 (GRCm39) A61V probably damaging Het
Trbv3 A T 6: 41,025,576 (GRCm39) K55N probably benign Het
Vmn1r178 A G 7: 23,593,871 (GRCm39) probably null Het
Vmn2r84 T C 10: 130,229,995 (GRCm39) D39G possibly damaging Het
Other mutations in Fkbp11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0785:Fkbp11 UTSW 15 98,624,430 (GRCm39) missense probably damaging 1.00
R5422:Fkbp11 UTSW 15 98,625,989 (GRCm39) splice site probably null
R7244:Fkbp11 UTSW 15 98,626,073 (GRCm39) start gained probably benign
R7368:Fkbp11 UTSW 15 98,622,307 (GRCm39) missense unknown
R7862:Fkbp11 UTSW 15 98,624,389 (GRCm39) nonsense probably null
Posted On 2015-04-16