Incidental Mutation 'IGL02607:Fkbp4'
ID300331
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fkbp4
Ensembl Gene ENSMUSG00000030357
Gene NameFK506 binding protein 4
SynonymsFKBP52, FKBP-52
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.726) question?
Stock #IGL02607
Quality Score
Status
Chromosome6
Chromosomal Location128429735-128438677 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 128434470 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032508] [ENSMUST00000150387] [ENSMUST00000151796]
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
1110004E09Rik G A 16: 90,929,947 T98M probably damaging Het
Abca17 C T 17: 24,327,705 W307* probably null Het
Cit A G 5: 115,859,209 I84V probably benign Het
Cltc T C 11: 86,706,714 D1132G probably benign Het
Cobll1 A T 2: 65,151,085 S54T probably damaging Het
Dcstamp A G 15: 39,754,584 R130G possibly damaging Het
Dennd4a A G 9: 64,862,327 M439V probably damaging Het
Dnajc15 T A 14: 77,840,216 I110F probably damaging Het
Dock1 T C 7: 134,851,513 F824L probably benign Het
Eml2 A G 7: 19,206,111 H617R probably damaging Het
Fgd6 A T 10: 94,044,448 Q388L possibly damaging Het
Fmnl3 A T 15: 99,324,772 L431Q probably damaging Het
Gng8 T C 7: 16,894,934 probably benign Het
Hmcn1 T A 1: 150,744,995 I1155F possibly damaging Het
Muc4 G T 16: 32,775,819 C3135F possibly damaging Het
Mycbp2 C T 14: 103,285,273 G685D probably damaging Het
Olfr1389 T C 11: 49,430,512 F12S probably damaging Het
Pcdhb8 A T 18: 37,357,581 I771F probably benign Het
Pkn2 A G 3: 142,794,101 probably null Het
Rrn3 G T 16: 13,806,563 V420L possibly damaging Het
Samm50 A T 15: 84,207,838 Y338F probably benign Het
Slc2a7 C T 4: 150,154,705 T129I probably benign Het
Tbc1d8 T C 1: 39,379,511 I806V probably benign Het
Tex2 T C 11: 106,546,747 E699G unknown Het
Vmn2r85 T C 10: 130,426,421 K150E possibly damaging Het
Other mutations in Fkbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Fkbp4 APN 6 128435791 missense probably benign 0.28
IGL02215:Fkbp4 APN 6 128434470 splice site probably benign
IGL03186:Fkbp4 APN 6 128434800 missense probably benign
IGL03238:Fkbp4 APN 6 128434757 missense probably damaging 1.00
R0083:Fkbp4 UTSW 6 128432407 unclassified probably benign
R0491:Fkbp4 UTSW 6 128435742 missense probably damaging 1.00
R1652:Fkbp4 UTSW 6 128436674 missense probably damaging 0.97
R1868:Fkbp4 UTSW 6 128432490 missense probably benign 0.00
R2010:Fkbp4 UTSW 6 128435802 missense probably benign 0.01
R2292:Fkbp4 UTSW 6 128436662 missense probably damaging 1.00
R5616:Fkbp4 UTSW 6 128433554 missense probably damaging 0.99
R6478:Fkbp4 UTSW 6 128433231 missense probably damaging 1.00
R7156:Fkbp4 UTSW 6 128435824 missense probably benign 0.31
Z1177:Fkbp4 UTSW 6 128433111 missense probably damaging 1.00
Posted On2015-04-16