Incidental Mutation 'R5706:Fkbp10'
ID 451985
Institutional Source Beutler Lab
Gene Symbol Fkbp10
Ensembl Gene ENSMUSG00000001555
Gene Name FK506 binding protein 10
Synonyms Fkbp-rs1, Fkbp1-rs, FKBP65, Fkbp6, 65kDa
MMRRC Submission 043331-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5706 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 100306523-100315650 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100311849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 174 (D174G)
Ref Sequence ENSEMBL: ENSMUSP00000001595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001595] [ENSMUST00000107398] [ENSMUST00000107399] [ENSMUST00000107400]
AlphaFold Q61576
Predicted Effect probably damaging
Transcript: ENSMUST00000001595
AA Change: D174G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001595
Gene: ENSMUSG00000001555
AA Change: D174G

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 damaging
Transcript: ENSMUST00000107400
AA Change: D174G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103023
Gene: ENSMUSG00000001555
AA Change: D174G

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,847,910 (GRCm39) M77K probably benign Het
Amy1 A G 3: 113,349,769 (GRCm39) V467A probably damaging Het
Atf4 T C 15: 80,140,531 (GRCm39) V11A possibly damaging Het
B4galt1 T C 4: 40,807,268 (GRCm39) N373D probably damaging Het
Bpifa3 A G 2: 153,977,498 (GRCm39) K112R probably damaging Het
Chd2 T A 7: 73,141,105 (GRCm39) Y596F possibly damaging Het
Clspn T C 4: 126,472,211 (GRCm39) S962P probably damaging Het
Cyp2c68 T C 19: 39,722,762 (GRCm39) D262G possibly damaging Het
Dcaf11 T C 14: 55,803,152 (GRCm39) I282T probably damaging Het
Dmxl1 T C 18: 50,090,462 (GRCm39) probably null Het
Dnah11 T G 12: 117,987,670 (GRCm39) K2411Q probably damaging Het
Elf3 A G 1: 135,184,220 (GRCm39) V196A probably benign Het
Fhad1 T G 4: 141,681,427 (GRCm39) T538P probably damaging Het
Gas6 A G 8: 13,527,098 (GRCm39) S217P probably damaging Het
Heatr5b C T 17: 79,074,304 (GRCm39) probably null Het
Iqgap3 A G 3: 88,023,215 (GRCm39) E502G probably benign Het
Klc1 T C 12: 111,762,061 (GRCm39) V577A possibly damaging Het
Lck T C 4: 129,445,431 (GRCm39) probably null Het
Mc3r C A 2: 172,091,610 (GRCm39) Y277* probably null Het
Mlxipl T C 5: 135,162,458 (GRCm39) V640A probably benign Het
Mrc2 A T 11: 105,223,169 (GRCm39) N471Y probably damaging Het
Ncan T A 8: 70,554,667 (GRCm39) H1050L probably damaging Het
Nrl C A 14: 55,759,889 (GRCm39) V13F probably damaging Het
Obscn T A 11: 58,967,082 (GRCm39) Y546F probably damaging Het
Or52u1 T G 7: 104,237,097 (GRCm39) S46A probably benign Het
Or6c209 A G 10: 129,483,960 (GRCm39) probably null Het
Or6d14 A G 6: 116,534,074 (GRCm39) I229M probably damaging Het
Pde3b G A 7: 114,120,927 (GRCm39) G684D probably damaging Het
Prkaa1 C T 15: 5,203,823 (GRCm39) T244I probably benign Het
Scfd2 A T 5: 74,367,059 (GRCm39) probably null Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Smg1 A T 7: 117,744,813 (GRCm39) V3113D possibly damaging Het
Sorbs1 T C 19: 40,365,325 (GRCm39) T153A probably benign Het
Spag16 A G 1: 69,909,448 (GRCm39) T182A probably benign Het
Spopfm1 T A 3: 94,173,959 (GRCm39) H322Q possibly damaging Het
Svs5 T C 2: 164,079,589 (GRCm39) K106R possibly damaging Het
Tenm1 A G X: 42,163,572 (GRCm39) V107A possibly damaging Het
Topaz1 A T 9: 122,628,550 (GRCm39) I1546F possibly damaging Het
Tubgcp2 C A 7: 139,612,138 (GRCm39) E78* probably null Het
Vars1 A G 17: 35,224,457 (GRCm39) probably null Het
Vmn2r109 A T 17: 20,774,567 (GRCm39) W263R probably benign 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
R5163:Fkbp10 UTSW 11 100,313,925 (GRCm39) missense probably benign 0.03
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
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'- ACTTGTGTAAACCCCACCTC -3'
(R):5'- CATGCCTTTGATCAGCCAAC -3'

Sequencing Primer
(F):5'- GTGTAAACCCCACCTCTGCTG -3'
(R):5'- ATGTAGGTGTCATAAGTGCCTCCC -3'
Posted On 2017-01-03