Incidental Mutation 'IGL02728:Fkbp10'
ID305330
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fkbp10
Ensembl Gene ENSMUSG00000001555
Gene NameFK506 binding protein 10
SynonymsFkbp6, Fkbp-rs1, Fkbp1-rs, FKBP65, 65kDa
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02728
Quality Score
Status
Chromosome11
Chromosomal Location100415697-100424824 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 100415977 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 65 (R65L)
Ref Sequence ENSEMBL: ENSMUSP00000103023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001595] [ENSMUST00000066489] [ENSMUST00000107400]
Predicted Effect probably damaging
Transcript: ENSMUST00000001595
AA Change: R65L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001595
Gene: ENSMUSG00000001555
AA Change: R65L

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: ENSMUST00000066489
SMART Domains Protein: ENSMUSP00000065278
Gene: ENSMUSG00000006931

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 56 70 N/A INTRINSIC
low complexity region 93 104 N/A INTRINSIC
internal_repeat_1 151 215 5.16e-8 PROSPERO
internal_repeat_1 302 364 5.16e-8 PROSPERO
low complexity region 385 408 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107400
AA Change: R65L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103023
Gene: ENSMUSG00000001555
AA Change: R65L

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 unknown
Transcript: ENSMUST00000134815
AA Change: R44L
SMART Domains Protein: ENSMUSP00000123577
Gene: ENSMUSG00000001555
AA Change: R44L

DomainStartEndE-ValueType
Pfam:FKBP_C 34 65 1.6e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139084
Predicted Effect probably benign
Transcript: ENSMUST00000141840
Coding Region Coverage
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 G T 9: 90,191,827 probably benign Het
Als2 A G 1: 59,196,347 V726A probably benign Het
Apba1 G A 19: 23,944,905 G779E possibly damaging Het
Atr T A 9: 95,936,475 V2167E probably damaging Het
Bod1l T C 5: 41,826,503 K566E probably damaging Het
Btd T C 14: 31,667,362 F347L probably benign Het
Btg2 T C 1: 134,078,905 probably benign Het
Cblb T A 16: 52,183,309 S717T probably benign Het
Cep250 T A 2: 155,983,278 probably benign Het
Cep350 T C 1: 155,953,222 N312S probably benign Het
Clasp1 A T 1: 118,602,377 T1490S probably damaging Het
Col7a1 T A 9: 108,984,104 C2906S probably benign Het
Csmd1 C T 8: 15,999,779 probably null Het
Cspg4 T A 9: 56,886,481 V500E probably damaging Het
Cyp7b1 T A 3: 18,072,575 D469V probably damaging Het
Dhh A T 15: 98,894,311 probably null Het
Dhrs3 A G 4: 144,920,072 R231G probably damaging Het
Disp3 A G 4: 148,272,038 S122P probably damaging Het
Dnah1 T C 14: 31,283,998 I2275V probably benign Het
Dock8 A C 19: 25,132,220 N922T probably benign Het
Eef1d A G 15: 75,903,096 L154P probably damaging Het
Eif4ebp1 C A 8: 27,273,482 P101Q possibly damaging Het
Eif4g1 T G 16: 20,686,752 probably benign Het
Emb A G 13: 117,232,765 M50V probably benign Het
Eml4 T C 17: 83,473,139 probably null Het
Gm10436 G T 12: 88,176,022 H275Q probably benign Het
Gm5878 T C 6: 85,118,592 N83S probably benign Het
Gm8165 C T 14: 43,676,237 A57T unknown Het
Gpr179 A G 11: 97,337,900 V1143A probably damaging Het
Hat1 T C 2: 71,421,260 Y218H probably damaging Het
Hfm1 T A 5: 106,878,823 N885I probably benign Het
Inha T C 1: 75,509,447 S129P probably damaging Het
Ints9 T C 14: 64,993,008 I128T probably damaging Het
Klra9 T C 6: 130,191,186 probably null Het
Lrba A G 3: 86,776,049 E2726G probably damaging Het
Lrp1b T C 2: 40,801,398 N3356D probably benign Het
Map3k5 A G 10: 20,118,292 D1008G possibly damaging Het
Med4 T A 14: 73,517,975 L241Q possibly damaging Het
Mtch1 A G 17: 29,338,742 V254A possibly damaging Het
Napg C T 18: 62,994,304 probably benign Het
Olfr173 C T 16: 58,797,480 R122H probably benign Het
Olfr339 T C 2: 36,422,144 S249P possibly damaging Het
Olfr823 T A 10: 130,112,618 R57S probably damaging Het
Olfr853 A G 9: 19,537,846 F28S possibly damaging Het
Olfr924 T C 9: 38,848,926 S271P probably damaging Het
Pias1 T A 9: 62,923,644 S161C probably damaging Het
Pias1 G T 9: 62,923,645 N160K possibly damaging Het
Pigp G A 16: 94,367,607 P37S probably damaging Het
Pik3c2b T A 1: 133,092,327 V1070E probably benign Het
Prepl T C 17: 85,070,582 T457A probably damaging Het
Psg23 G A 7: 18,606,928 A467V probably benign Het
Rad54l T C 4: 116,122,949 R13G probably benign Het
Rassf5 T C 1: 131,180,599 D248G probably damaging Het
Rspo1 A G 4: 125,005,162 N92S probably damaging Het
Scube1 G A 15: 83,659,016 probably benign Het
Sec31b C A 19: 44,523,115 V616F probably damaging Het
Sema3a T C 5: 13,565,914 V435A probably damaging Het
Slc7a10 T A 7: 35,197,698 I208N probably damaging Het
Stab2 A T 10: 86,856,556 M2151K possibly damaging Het
Tacc1 T C 8: 25,175,219 D50G probably damaging Het
Tas2r121 G T 6: 132,700,517 T164N probably damaging Het
Tatdn2 T C 6: 113,704,715 W570R probably damaging Het
Telo2 A T 17: 25,104,654 F600I probably damaging Het
Trim36 T A 18: 46,172,602 H426L probably benign Het
Trpm6 A T 19: 18,809,652 N531Y possibly damaging Het
Ttc30a1 T A 2: 75,980,849 M297L probably benign Het
Ttc39a T C 4: 109,442,723 C470R probably damaging Het
Ttn C T 2: 76,784,939 E8485K probably damaging Het
Ubr4 A T 4: 139,468,811 I1253F probably damaging Het
Unc79 A T 12: 103,122,429 H1724L possibly damaging Het
Vmn1r40 T A 6: 89,715,016 C89S probably benign Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Other mutations in Fkbp10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00962:Fkbp10 APN 11 100421817 missense probably benign 0.00
IGL02390:Fkbp10 APN 11 100416017 missense probably damaging 1.00
IGL02424:Fkbp10 APN 11 100415956 missense probably damaging 1.00
IGL02737:Fkbp10 APN 11 100422655 missense probably benign 0.25
IGL03143:Fkbp10 APN 11 100422754 missense probably benign 0.06
R0479:Fkbp10 UTSW 11 100415914 missense probably damaging 1.00
R1733:Fkbp10 UTSW 11 100423931 missense probably benign 0.20
R1817:Fkbp10 UTSW 11 100415889 missense probably benign 0.13
R1819:Fkbp10 UTSW 11 100415889 missense probably benign 0.13
R1831:Fkbp10 UTSW 11 100423219 missense probably damaging 1.00
R1997:Fkbp10 UTSW 11 100416015 missense probably damaging 1.00
R2017:Fkbp10 UTSW 11 100421673 missense possibly damaging 0.77
R3758:Fkbp10 UTSW 11 100422625 critical splice acceptor site probably null
R5163:Fkbp10 UTSW 11 100423099 missense probably benign 0.03
R5437:Fkbp10 UTSW 11 100421023 missense probably damaging 1.00
R5666:Fkbp10 UTSW 11 100423526 missense probably damaging 1.00
R5696:Fkbp10 UTSW 11 100423526 missense probably damaging 1.00
R5698:Fkbp10 UTSW 11 100423526 missense probably damaging 1.00
R5706:Fkbp10 UTSW 11 100421023 missense probably damaging 1.00
R7084:Fkbp10 UTSW 11 100421303 missense possibly damaging 0.56
R7405:Fkbp10 UTSW 11 100415881 missense probably damaging 1.00
R7780:Fkbp10 UTSW 11 100421222 missense probably damaging 1.00
Posted On2015-04-16