Incidental Mutation 'IGL00551:Fkbp5'
List |< first << previous [record 12 of 25] next >> last >|
ID29221
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fkbp5
Ensembl Gene ENSMUSG00000024222
Gene NameFK506 binding protein 5
SynonymsFKBP51, D17Ertd592e, Dit1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00551
Quality Score
Status
Chromosome17
Chromosomal Location28399095-28517524 bp(-) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) G to T at 28401046 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079413] [ENSMUST00000114792] [ENSMUST00000177939]
Predicted Effect probably benign
Transcript: ENSMUST00000079413
SMART Domains Protein: ENSMUSP00000078382
Gene: ENSMUSG00000024222

DomainStartEndE-ValueType
Pfam:FKBP_C 43 135 7.1e-31 PFAM
Pfam:FKBP_C 158 248 2.1e-14 PFAM
TPR 268 301 9.48e1 SMART
TPR 317 350 1.45e-6 SMART
TPR 351 384 1.23e-4 SMART
low complexity region 421 440 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114792
SMART Domains Protein: ENSMUSP00000110440
Gene: ENSMUSG00000024222

DomainStartEndE-ValueType
Pfam:FKBP_C 43 135 7.1e-31 PFAM
Pfam:FKBP_C 158 248 2.1e-14 PFAM
TPR 268 301 9.48e1 SMART
TPR 317 350 1.45e-6 SMART
TPR 351 384 1.23e-4 SMART
low complexity region 421 440 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143685
Predicted Effect probably benign
Transcript: ENSMUST00000177939
SMART Domains Protein: ENSMUSP00000136245
Gene: ENSMUSG00000024222

DomainStartEndE-ValueType
Pfam:FKBP_C 43 135 8.8e-32 PFAM
Pfam:FKBP_C 158 248 1.8e-15 PFAM
TPR 268 301 9.48e1 SMART
TPR 317 350 1.45e-6 SMART
TPR 351 384 1.23e-4 SMART
low complexity region 421 440 N/A INTRINSIC
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 is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It is thought to mediate calcineurin inhibition. It also interacts functionally with mature hetero-oligomeric progesterone receptor complexes along with the 90 kDa heat shock protein and P23 protein. This gene has been found to have multiple polyadenylation sites. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a null allele are normal and fertile. Mice homozygous for another knock-out allele exhibit decreased depression-related behavior and increased anxiety-related behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Art2b C T 7: 101,580,569 C41Y probably damaging Het
Btk A G X: 134,573,934 Y42H probably damaging Het
Cacna1e T C 1: 154,403,683 D1720G probably damaging Het
Ccr5 T C 9: 124,124,588 I76T probably damaging Het
Chd3 A G 11: 69,346,629 V1913A probably damaging Het
Dmxl2 A G 9: 54,450,838 Y526H probably damaging Het
Dnah8 A T 17: 30,663,478 K675* probably null Het
Eif2b1 A G 5: 124,576,869 F115L probably damaging Het
Erlin1 T C 19: 44,059,146 D112G probably damaging Het
Fabp12 A G 3: 10,246,055 probably benign Het
Fam47c A G X: 78,738,454 E214G probably damaging Het
Hist1h1c C A 13: 23,738,845 probably benign Het
Kidins220 G T 12: 25,038,560 probably benign Het
Limd2 T C 11: 106,159,205 E15G probably benign Het
Mga T A 2: 119,919,814 C696S possibly damaging Het
Naa16 A G 14: 79,355,729 F468L probably damaging Het
Ndufaf1 A G 2: 119,660,469 S37P probably damaging Het
Phrf1 A G 7: 141,258,877 probably benign Het
Prr14 A G 7: 127,474,647 T228A probably benign Het
Rfc1 A T 5: 65,296,009 F265L probably benign Het
Selenos A G 7: 66,087,194 E137G probably benign Het
Tars T C 15: 11,388,221 probably null Het
Tpcn1 A G 5: 120,560,325 I44T probably benign Het
Usp26 A G X: 51,757,305 V31A probably benign Het
Other mutations in Fkbp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03104:Fkbp5 APN 17 28415972 missense probably damaging 1.00
R0242:Fkbp5 UTSW 17 28428452 missense probably benign 0.01
R0242:Fkbp5 UTSW 17 28428452 missense probably benign 0.01
R0531:Fkbp5 UTSW 17 28438029 missense probably benign 0.00
R1557:Fkbp5 UTSW 17 28402755 missense probably damaging 0.96
R1853:Fkbp5 UTSW 17 28429307 missense possibly damaging 0.82
R2102:Fkbp5 UTSW 17 28406188 missense possibly damaging 0.81
R2194:Fkbp5 UTSW 17 28438027 missense probably benign 0.32
R3522:Fkbp5 UTSW 17 28415996 missense probably benign 0.00
R4959:Fkbp5 UTSW 17 28428369 missense probably damaging 1.00
R4973:Fkbp5 UTSW 17 28428369 missense probably damaging 1.00
R5164:Fkbp5 UTSW 17 28437990 critical splice donor site probably null
R6053:Fkbp5 UTSW 17 28428466 missense probably benign 0.00
R6443:Fkbp5 UTSW 17 28429279 missense probably damaging 1.00
R6989:Fkbp5 UTSW 17 28415945 missense probably benign 0.01
R7027:Fkbp5 UTSW 17 28412063 missense probably damaging 1.00
R7454:Fkbp5 UTSW 17 28416025 missense probably damaging 0.97
R7635:Fkbp5 UTSW 17 28428361 missense probably benign 0.00
R7708:Fkbp5 UTSW 17 28438097 missense probably benign
R7862:Fkbp5 UTSW 17 28412039 missense probably damaging 1.00
Posted On2013-04-17