Incidental Mutation 'IGL02607:Fkbp4'
ID 300331
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fkbp4
Ensembl Gene ENSMUSG00000030357
Gene Name FK506 binding protein 4
Synonyms FKBP-52, FKBP52
Accession Numbers
Essential gene? Probably essential (E-score: 0.833) question?
Stock # IGL02607
Quality Score
Status
Chromosome 6
Chromosomal Location 128407066-128415619 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 128411433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032508] [ENSMUST00000150387] [ENSMUST00000151796]
AlphaFold P30416
Predicted Effect probably benign
Transcript: ENSMUST00000032508
SMART Domains Protein: ENSMUSP00000032508
Gene: ENSMUSG00000030357

DomainStartEndE-ValueType
Pfam:FKBP_C 43 135 2.6e-33 PFAM
Pfam:FKBP_C 160 250 1.3e-14 PFAM
TPR 270 303 4.44e1 SMART
TPR 319 352 1.76e-5 SMART
TPR 353 386 2e-4 SMART
low complexity region 419 431 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139448
SMART Domains Protein: ENSMUSP00000114939
Gene: ENSMUSG00000030357

DomainStartEndE-ValueType
Pfam:FKBP_C 43 135 3.8e-33 PFAM
Pfam:FKBP_C 160 250 2.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144745
Predicted Effect probably benign
Transcript: ENSMUST00000150387
SMART Domains Protein: ENSMUSP00000119930
Gene: ENSMUSG00000030357

DomainStartEndE-ValueType
Pfam:FKBP_C 1 88 7.8e-31 PFAM
Pfam:FKBP_C 113 203 4.7e-13 PFAM
Blast:TPR 223 256 3e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000151796
SMART Domains Protein: ENSMUSP00000122087
Gene: ENSMUSG00000030357

DomainStartEndE-ValueType
Pfam:FKBP_C 1 88 3.7e-31 PFAM
Pfam:FKBP_C 113 187 3.2e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204081
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 has high structural and functional similarity to FK506-binding protein 1A (FKBP1A), but unlike FKBP1A, this protein does not have immunosuppressant activity when complexed with FK506. It interacts with interferon regulatory factor-4 and plays an important role in immunoregulatory gene expression in B and T lymphocytes. This encoded protein is known to associate with phytanoyl-CoA alpha-hydroxylase. It can also associate with two heat shock proteins (hsp90 and hsp70) and thus may play a role in the intracellular trafficking of hetero-oligomeric forms of the steroid hormone receptors. This protein correlates strongly with adeno-associated virus type 2 vectors (AAV) resulting in a significant increase in AAV-mediated transgene expression in human cell lines. Thus this encoded protein is thought to have important implications for the optimal use of AAV vectors in human gene therapy. The human genome contains several non-transcribed pseudogenes similar to this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Homozygous null males show reproductive tissue defects consistent with androgen insensitivity such as ambiguous external genitalia, dysgenic prostate, malformed seminal gland and cryptorchism. Males also exhibit hypospadia and infertility. Females are sterile due to failure of implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C T 17: 24,546,679 (GRCm39) W307* probably null Het
Cfap298 G A 16: 90,726,835 (GRCm39) T98M probably damaging Het
Cit A G 5: 115,997,268 (GRCm39) I84V probably benign Het
Cltc T C 11: 86,597,540 (GRCm39) D1132G probably benign Het
Cobll1 A T 2: 64,981,429 (GRCm39) S54T probably damaging Het
Dcstamp A G 15: 39,617,980 (GRCm39) R130G possibly damaging Het
Dennd4a A G 9: 64,769,609 (GRCm39) M439V probably damaging Het
Dnajc15 T A 14: 78,077,656 (GRCm39) I110F probably damaging Het
Dock1 T C 7: 134,453,242 (GRCm39) F824L probably benign Het
Eml2 A G 7: 18,940,036 (GRCm39) H617R probably damaging Het
Fgd6 A T 10: 93,880,310 (GRCm39) Q388L possibly damaging Het
Fmnl3 A T 15: 99,222,653 (GRCm39) L431Q probably damaging Het
Gng8 T C 7: 16,628,859 (GRCm39) probably benign Het
Hmcn1 T A 1: 150,620,746 (GRCm39) I1155F possibly damaging Het
Muc4 G T 16: 32,596,193 (GRCm39) C3135F possibly damaging Het
Mycbp2 C T 14: 103,522,709 (GRCm39) G685D probably damaging Het
Or2y1d T C 11: 49,321,339 (GRCm39) F12S probably damaging Het
Pcdhb8 A T 18: 37,490,634 (GRCm39) I771F probably benign Het
Pkn2 A G 3: 142,499,862 (GRCm39) probably null Het
Rrn3 G T 16: 13,624,427 (GRCm39) V420L possibly damaging Het
Samm50 A T 15: 84,092,039 (GRCm39) Y338F probably benign Het
Slc2a7 C T 4: 150,239,162 (GRCm39) T129I probably benign Het
Tbc1d8 T C 1: 39,418,592 (GRCm39) I806V probably benign Het
Tex2 T C 11: 106,437,573 (GRCm39) E699G unknown Het
Vmn2r85 T C 10: 130,262,290 (GRCm39) K150E possibly damaging Het
Other mutations in Fkbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Fkbp4 APN 6 128,412,754 (GRCm39) missense probably benign 0.28
IGL02215:Fkbp4 APN 6 128,411,433 (GRCm39) splice site probably benign
IGL03186:Fkbp4 APN 6 128,411,763 (GRCm39) missense probably benign
IGL03238:Fkbp4 APN 6 128,411,720 (GRCm39) missense probably damaging 1.00
R0083:Fkbp4 UTSW 6 128,409,370 (GRCm39) unclassified probably benign
R0491:Fkbp4 UTSW 6 128,412,705 (GRCm39) missense probably damaging 1.00
R1652:Fkbp4 UTSW 6 128,413,637 (GRCm39) missense probably damaging 0.97
R1868:Fkbp4 UTSW 6 128,409,453 (GRCm39) missense probably benign 0.00
R2010:Fkbp4 UTSW 6 128,412,765 (GRCm39) missense probably benign 0.01
R2292:Fkbp4 UTSW 6 128,413,625 (GRCm39) missense probably damaging 1.00
R5616:Fkbp4 UTSW 6 128,410,517 (GRCm39) missense probably damaging 0.99
R6478:Fkbp4 UTSW 6 128,410,194 (GRCm39) missense probably damaging 1.00
R7156:Fkbp4 UTSW 6 128,412,787 (GRCm39) missense probably benign 0.31
R9182:Fkbp4 UTSW 6 128,415,382 (GRCm39) missense probably benign
R9445:Fkbp4 UTSW 6 128,413,580 (GRCm39) missense probably damaging 1.00
R9739:Fkbp4 UTSW 6 128,410,728 (GRCm39) missense probably benign 0.00
Z1177:Fkbp4 UTSW 6 128,410,074 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16