Incidental Mutation 'R0785:Fkbp11'
ID 76830
Institutional Source Beutler Lab
Gene Symbol Fkbp11
Ensembl Gene ENSMUSG00000003355
Gene Name FK506 binding protein 11
Synonyms 1110002O23Rik
MMRRC Submission 038965-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.567) question?
Stock # R0785 (G1)
Quality Score 90
Status Validated
Chromosome 15
Chromosomal Location 98622249-98626079 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98624430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 108 (K108R)
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: K108R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000003445
Gene: ENSMUSG00000003355
AA Change: K108R

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
Meta Mutation Damage Score 0.1404 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.1%
  • 20x: 87.1%
Validation Efficiency 100% (36/36)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G A 7: 119,893,380 (GRCm39) G1277R probably damaging Het
Adam10 A G 9: 70,675,170 (GRCm39) E593G possibly damaging Het
Adh6a T C 3: 138,034,829 (GRCm39) probably benign Het
Akap6 T A 12: 52,933,405 (GRCm39) I299N probably benign Het
Bltp1 T C 3: 37,013,483 (GRCm39) probably benign Het
Bod1l A T 5: 41,977,359 (GRCm39) N1318K probably benign Het
Ccdc121rt2 A G 5: 112,598,434 (GRCm39) D327G probably benign Het
Eif2b2 C A 12: 85,268,335 (GRCm39) T170K probably damaging Het
Ermard T A 17: 15,242,239 (GRCm39) H138Q probably damaging Het
Ern2 A T 7: 121,770,884 (GRCm39) probably null Het
Golgb1 A G 16: 36,719,152 (GRCm39) K353E possibly damaging Het
Hipk1 G T 3: 103,661,641 (GRCm39) probably null Het
Itga4 A G 2: 79,119,649 (GRCm39) D485G possibly damaging Het
Krt1c C A 15: 101,726,356 (GRCm39) G61C unknown Het
Med12l T A 3: 59,168,253 (GRCm39) L1561Q probably damaging Het
Mtmr14 T C 6: 113,254,908 (GRCm39) probably null Het
Myorg A G 4: 41,497,539 (GRCm39) V697A probably benign Het
Naip1 A G 13: 100,559,584 (GRCm39) M1140T probably benign Het
Naip1 C T 13: 100,559,593 (GRCm39) R1137Q probably benign Het
Nav2 T A 7: 49,070,081 (GRCm39) H251Q probably benign Het
Nphp4 A G 4: 152,646,566 (GRCm39) D1366G possibly damaging Het
Or2b7 A G 13: 21,739,958 (GRCm39) V78A probably benign Het
Or6c75 A G 10: 129,336,750 (GRCm39) probably null Het
Pde6c A C 19: 38,121,628 (GRCm39) M79L probably benign Het
Pld5 C T 1: 175,803,018 (GRCm39) probably benign Het
Polr1g G C 7: 19,091,210 (GRCm39) S299C probably benign Het
Rps6kc1 A G 1: 190,541,142 (GRCm39) V387A probably damaging Het
Tas2r136 T C 6: 132,754,890 (GRCm39) D79G probably benign Het
Tmem243 A T 5: 9,168,488 (GRCm39) K90I probably damaging Het
Topbp1 A G 9: 103,192,289 (GRCm39) H260R probably damaging Het
Trappc1 A G 11: 69,215,636 (GRCm39) probably benign Het
Vmn2r125 C A 4: 156,703,396 (GRCm39) A258D probably benign Het
Zfp300 T C X: 20,949,164 (GRCm39) Y200C possibly damaging Het
Other mutations in Fkbp11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02727:Fkbp11 APN 15 98,622,471 (GRCm39) missense probably damaging 0.96
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
Predicted Primers PCR Primer
(F):5'- TAAGTAGTGTAGGCAGCAGGACCC -3'
(R):5'- TGACTTCATACTGGAGAGGTGCAGG -3'

Sequencing Primer
(F):5'- CCTCTCCTGGAGAAAAAGTGGC -3'
(R):5'- TAAGGCACTTCAGATGGGCTG -3'
Posted On 2013-10-16