Incidental Mutation 'IGL02670:Fkbp3'
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ID302885
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fkbp3
Ensembl Gene ENSMUSG00000020949
Gene NameFK506 binding protein 3
Synonyms25kDa, FKBP25
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02670
Quality Score
Status
Chromosome12
Chromosomal Location65062424-65074007 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 65069103 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 65 (K65*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021332] [ENSMUST00000220730] [ENSMUST00000221166] [ENSMUST00000221913]
Predicted Effect probably null
Transcript: ENSMUST00000021332
AA Change: K73*
SMART Domains Protein: ENSMUSP00000021332
Gene: ENSMUSG00000020949
AA Change: K73*

DomainStartEndE-ValueType
PDB:2KFV|A 1 73 2e-45 PDB
low complexity region 91 100 N/A INTRINSIC
Pfam:FKBP_C 121 221 3.9e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220957
Predicted Effect probably null
Transcript: ENSMUST00000220983
AA Change: K65*
Predicted Effect probably benign
Transcript: ENSMUST00000221166
AA Change: Q74L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000221608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221710
Predicted Effect probably benign
Transcript: ENSMUST00000221913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222467
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222684
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223167
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 the immunosuppressants FK506 and rapamycin, as well as histone deacetylases, the transcription factor YY1, casein kinase II, and nucleolin. It has a higher affinity for rapamycin than for FK506 and thus may be an important target molecule for immunosuppression by rapamycin. [provided by RefSeq, Sep 2008]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik C T 3: 36,967,305 Q2193* probably null Het
Asb1 T C 1: 91,546,918 probably benign Het
Cnot6 G A 11: 49,685,114 Q178* probably null Het
Col5a1 C T 2: 27,974,715 A737V unknown Het
Cyp27b1 T C 10: 127,050,358 S303P probably benign Het
Dnah5 T C 15: 28,409,296 L3620P probably damaging Het
Dock7 A T 4: 98,966,286 probably null Het
Fam161b T C 12: 84,357,594 D104G probably benign Het
Fam8a1 A G 13: 46,673,604 M284V possibly damaging Het
Gatb A G 3: 85,613,551 probably null Het
Gm572 A T 4: 148,651,228 H38L probably benign Het
Gm6576 A C 15: 27,025,512 noncoding transcript Het
L2hgdh G A 12: 69,692,480 R406W possibly damaging Het
Lmo7 A T 14: 101,880,980 T214S probably damaging Het
Map3k12 T C 15: 102,503,546 H361R probably benign Het
Mios T C 6: 8,235,378 probably benign Het
Mta1 T C 12: 113,130,121 L315P probably damaging Het
Pask A C 1: 93,310,818 V1315G probably damaging Het
Pias4 A T 10: 81,164,070 C50S probably damaging Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Sgk1 T A 10: 21,928,546 C92S probably benign Het
Slc2a13 C T 15: 91,497,509 G259E probably damaging Het
Slc5a4b A G 10: 76,075,100 C301R probably damaging Het
Sstr4 G T 2: 148,396,533 G355* probably null Het
Tnrc6a T A 7: 123,171,312 L775Q possibly damaging Het
Vmn1r218 A G 13: 23,137,004 I94V probably benign Het
Xpa A G 4: 46,185,682 F99L probably benign Het
Other mutations in Fkbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0632:Fkbp3 UTSW 12 65073918 missense probably benign 0.03
R4407:Fkbp3 UTSW 12 65070004 missense probably damaging 0.99
R5742:Fkbp3 UTSW 12 65070038 missense probably benign 0.04
R6027:Fkbp3 UTSW 12 65073918 missense possibly damaging 0.94
R7929:Fkbp3 UTSW 12 65070038 unclassified probably benign
Posted On2015-04-16