Incidental Mutation 'R5163:Fkbp10'
ID 397113
Institutional Source Beutler Lab
Gene Symbol Fkbp10
Ensembl Gene ENSMUSG00000001555
Gene Name FK506 binding protein 10
Synonyms Fkbp-rs1, Fkbp1-rs, FKBP65, Fkbp6, 65kDa
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5163 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 100306523-100315650 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100313925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 311 (A311V)
Ref Sequence ENSEMBL: ENSMUSP00000103023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001595] [ENSMUST00000107398] [ENSMUST00000107399] [ENSMUST00000107400]
AlphaFold Q61576
Predicted Effect probably benign
Transcript: ENSMUST00000001595
AA Change: A423V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000001595
Gene: ENSMUSG00000001555
AA Change: A423V

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:FKBP_C 54 146 5.4e-30 PFAM
Pfam:FKBP_C 166 258 4e-29 PFAM
Pfam:FKBP_C 278 370 2.3e-28 PFAM
Pfam:FKBP_C 391 482 6.2e-26 PFAM
EFh 503 528 2.16e0 SMART
EFh 545 573 2.04e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107398
SMART Domains Protein: ENSMUSP00000103021
Gene: ENSMUSG00000017176

DomainStartEndE-ValueType
Pfam:UMPH-1 44 261 3.5e-108 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107399
SMART Domains Protein: ENSMUSP00000103022
Gene: ENSMUSG00000017176

DomainStartEndE-ValueType
Pfam:UMPH-1 44 261 3.5e-108 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107400
AA Change: A311V

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000103023
Gene: ENSMUSG00000001555
AA Change: A311V

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
Pfam:FKBP_C 54 146 1.4e-29 PFAM
Pfam:FKBP_C 166 258 2e-29 PFAM
Pfam:FKBP_C 279 370 4.9e-26 PFAM
EFh 391 416 2.16e0 SMART
EFh 433 461 2.04e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125616
Predicted Effect probably benign
Transcript: ENSMUST00000134815
SMART Domains Protein: ENSMUSP00000123577
Gene: ENSMUSG00000001555

DomainStartEndE-ValueType
Pfam:FKBP_C 34 65 1.6e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139084
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous null mice do not survive birth, and embryos exhibit delayed growth, tissue fragility, decreased aorta wall thickness, craniofacial and forelimb anomalies, and connective tissue alterations. Mutant MEFs retain procollagen in the cell layer and show dilated endoplasmic reticulum. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Bcor C T X: 11,906,725 (GRCm39) R1551Q probably damaging Het
Btbd19 T G 4: 116,978,628 (GRCm39) I152L probably damaging Het
Dnaaf11 T C 15: 66,314,067 (GRCm39) D311G probably benign Het
Dync2i1 C T 12: 116,219,486 (GRCm39) R152H possibly damaging Het
Ercc6l2 A G 13: 64,046,845 (GRCm39) probably benign Het
Fat4 A G 3: 39,034,946 (GRCm39) D2866G probably damaging Het
Fnbp1l T C 3: 122,338,312 (GRCm39) N511S probably benign Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gltp A G 5: 114,812,122 (GRCm39) I147T probably benign Het
Gpr37 A T 6: 25,669,614 (GRCm39) I410N possibly damaging Het
Hivep2 G A 10: 14,015,169 (GRCm39) G1779R probably damaging Het
Ifna14 T C 4: 88,489,599 (GRCm39) Y146C probably damaging Het
Loxhd1 A G 18: 77,449,432 (GRCm39) D662G possibly damaging Het
Lrrc9 A T 12: 72,496,163 (GRCm39) I13F probably damaging Het
Map2k3 T A 11: 60,834,317 (GRCm39) I95N probably damaging Het
Mark1 A G 1: 184,637,807 (GRCm39) I594T probably damaging Het
Mettl14 T C 3: 123,168,474 (GRCm39) I189V possibly damaging Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Odf4 C A 11: 68,813,672 (GRCm39) C133F probably damaging Het
Opa1 A T 16: 29,416,438 (GRCm39) Q106L probably damaging Het
Or10d5j T C 9: 39,868,216 (GRCm39) N5S probably damaging Het
Pax4 T G 6: 28,446,269 (GRCm39) S75R probably damaging Het
Ppfibp1 T A 6: 146,923,629 (GRCm39) probably null Het
Ptpn20 T C 14: 33,353,068 (GRCm39) I269T probably benign Het
Ptprq T C 10: 107,360,192 (GRCm39) Q2161R probably damaging Het
Rab22a A G 2: 173,503,280 (GRCm39) D31G probably damaging Het
Rap1gds1 A T 3: 138,664,817 (GRCm39) M296K probably damaging Het
Rfx1 A G 8: 84,819,840 (GRCm39) T692A probably damaging Het
Sf3b2 A G 19: 5,325,165 (GRCm39) V769A probably damaging Het
Skint5 A T 4: 113,652,762 (GRCm39) F621I unknown Het
Spink5 A C 18: 44,132,924 (GRCm39) R513S possibly damaging Het
Srrm2 C T 17: 24,038,524 (GRCm39) probably benign Het
Srrt A G 5: 137,295,035 (GRCm39) probably null Het
Sun3 T C 11: 8,973,295 (GRCm39) Q134R possibly damaging Het
Tpo A G 12: 30,155,979 (GRCm39) V174A probably benign Het
Ucp1 A G 8: 84,020,832 (GRCm39) R183G possibly damaging Het
Vmn2r66 A G 7: 84,656,017 (GRCm39) V333A probably benign Het
Zfp108 G T 7: 23,960,163 (GRCm39) K251N probably benign Het
Zfp936 A G 7: 42,839,664 (GRCm39) Q377R probably damaging Het
Zkscan2 T C 7: 123,099,090 (GRCm39) E34G probably benign Het
Zup1 T A 10: 33,825,439 (GRCm39) E14D probably damaging Het
Other mutations in Fkbp10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00962:Fkbp10 APN 11 100,312,643 (GRCm39) missense probably benign 0.00
IGL02390:Fkbp10 APN 11 100,306,843 (GRCm39) missense probably damaging 1.00
IGL02424:Fkbp10 APN 11 100,306,782 (GRCm39) missense probably damaging 1.00
IGL02728:Fkbp10 APN 11 100,306,803 (GRCm39) missense probably damaging 1.00
IGL02737:Fkbp10 APN 11 100,313,481 (GRCm39) missense probably benign 0.25
IGL03143:Fkbp10 APN 11 100,313,580 (GRCm39) missense probably benign 0.06
R0479:Fkbp10 UTSW 11 100,306,740 (GRCm39) missense probably damaging 1.00
R1733:Fkbp10 UTSW 11 100,314,757 (GRCm39) missense probably benign 0.20
R1817:Fkbp10 UTSW 11 100,306,715 (GRCm39) missense probably benign 0.13
R1819:Fkbp10 UTSW 11 100,306,715 (GRCm39) missense probably benign 0.13
R1831:Fkbp10 UTSW 11 100,314,045 (GRCm39) missense probably damaging 1.00
R1997:Fkbp10 UTSW 11 100,306,841 (GRCm39) missense probably damaging 1.00
R2017:Fkbp10 UTSW 11 100,312,499 (GRCm39) missense possibly damaging 0.77
R3758:Fkbp10 UTSW 11 100,313,451 (GRCm39) critical splice acceptor site probably null
R5437:Fkbp10 UTSW 11 100,311,849 (GRCm39) missense probably damaging 1.00
R5666:Fkbp10 UTSW 11 100,314,352 (GRCm39) missense probably damaging 1.00
R5696:Fkbp10 UTSW 11 100,314,352 (GRCm39) missense probably damaging 1.00
R5698:Fkbp10 UTSW 11 100,314,352 (GRCm39) missense probably damaging 1.00
R5706:Fkbp10 UTSW 11 100,311,849 (GRCm39) missense probably damaging 1.00
R7084:Fkbp10 UTSW 11 100,312,129 (GRCm39) missense possibly damaging 0.56
R7405:Fkbp10 UTSW 11 100,306,707 (GRCm39) missense probably damaging 1.00
R7780:Fkbp10 UTSW 11 100,312,048 (GRCm39) missense probably damaging 1.00
R8237:Fkbp10 UTSW 11 100,306,785 (GRCm39) missense probably damaging 1.00
R8886:Fkbp10 UTSW 11 100,312,862 (GRCm39) missense probably damaging 1.00
R8978:Fkbp10 UTSW 11 100,313,936 (GRCm39) missense probably benign 0.19
R9484:Fkbp10 UTSW 11 100,313,960 (GRCm39) missense probably damaging 1.00
R9505:Fkbp10 UTSW 11 100,306,826 (GRCm39) nonsense probably null
R9590:Fkbp10 UTSW 11 100,306,785 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAGCTTGCCAGGCTTCTTC -3'
(R):5'- AAAGTTTCCCTGGTCCCACC -3'

Sequencing Primer
(F):5'- CTGGGTCTCACAGTCTCTTAC -3'
(R):5'- GCCAAGGCCTGAGATGG -3'
Posted On 2016-06-21