Incidental Mutation 'IGL02215:Fkbp4'
ID 284864
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 # IGL02215
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 126,303,196 (GRCm39) S378R probably benign Het
Abca14 T A 7: 119,852,612 (GRCm39) M859K probably benign Het
Adamts13 C T 2: 26,875,495 (GRCm39) P462S probably damaging Het
Apol7a G T 15: 77,277,690 (GRCm39) D19E possibly damaging Het
Armc8 T C 9: 99,366,031 (GRCm39) N628D possibly damaging Het
Astn2 T A 4: 66,184,471 (GRCm39) I209F unknown Het
Atp10b T C 11: 43,085,492 (GRCm39) probably null Het
C4b C T 17: 34,953,465 (GRCm39) C1006Y probably damaging Het
Capn13 A G 17: 73,637,993 (GRCm39) L470P probably damaging Het
Col4a4 T C 1: 82,431,530 (GRCm39) R1585G unknown Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Csmd3 C T 15: 47,449,084 (GRCm39) V3637M probably damaging Het
Dgki C T 6: 36,993,610 (GRCm39) D584N probably damaging Het
Dmrt2 T C 19: 25,655,498 (GRCm39) S366P probably damaging Het
Dmtf1 A C 5: 9,186,070 (GRCm39) L172R probably damaging Het
Efhc2 A G X: 17,096,817 (GRCm39) F177L probably damaging Het
Enpep T A 3: 129,063,926 (GRCm39) probably benign Het
Enpp6 A T 8: 47,518,967 (GRCm39) D245V probably damaging Het
Fam199x T A X: 135,963,399 (GRCm39) probably benign Het
Gas7 A G 11: 67,534,158 (GRCm39) H86R probably benign Het
Gcc2 A G 10: 58,107,458 (GRCm39) N862S probably benign Het
Gstm7 T C 3: 107,837,594 (GRCm39) D115G possibly damaging Het
Gtse1 C A 15: 85,746,799 (GRCm39) P205Q possibly damaging Het
H2bc1 A T 13: 24,118,093 (GRCm39) F16Y probably benign Het
Herc4 G A 10: 63,109,345 (GRCm39) M193I probably benign Het
Igfl3 T A 7: 17,913,763 (GRCm39) C38S possibly damaging Het
Il18rap G A 1: 40,587,082 (GRCm39) D455N probably damaging Het
Ints8 A G 4: 11,209,244 (GRCm39) I932T probably damaging Het
Itgbl1 A C 14: 124,209,553 (GRCm39) I311L probably benign Het
Jmjd1c A T 10: 67,056,101 (GRCm39) H794L probably damaging Het
Kif1a A G 1: 92,948,271 (GRCm39) S1542P probably benign Het
Klc3 T A 7: 19,129,750 (GRCm39) N373I probably damaging Het
Lcn2 T C 2: 32,274,877 (GRCm39) *201W probably null Het
Ldhb A T 6: 142,441,292 (GRCm39) probably null Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Npat T A 9: 53,470,417 (GRCm39) S348T probably benign Het
Pclo A T 5: 14,906,999 (GRCm39) D5001V unknown Het
Peg3 C A 7: 6,712,010 (GRCm39) A1071S probably benign Het
Piwil2 A T 14: 70,628,822 (GRCm39) D731E possibly damaging Het
Prss41 T A 17: 24,062,830 (GRCm39) D35V probably benign Het
Ptprz1 T A 6: 22,965,181 (GRCm39) D159E possibly damaging Het
Rabep1 C T 11: 70,814,023 (GRCm39) Q571* probably null Het
Scn8a A G 15: 100,927,453 (GRCm39) probably null Het
Sipa1l2 G A 8: 126,174,576 (GRCm39) T1234I possibly damaging Het
Slc5a10 T A 11: 61,564,738 (GRCm39) M414L probably benign Het
Smg5 T C 3: 88,260,305 (GRCm39) S632P possibly damaging Het
Smim15 A G 13: 108,184,048 (GRCm39) D18G probably benign Het
Sorl1 T A 9: 41,929,478 (GRCm39) I1132F probably damaging Het
Spatc1 T C 15: 76,167,739 (GRCm39) probably benign Het
Sytl2 A T 7: 90,030,422 (GRCm39) probably benign Het
Tesc A G 5: 118,199,683 (GRCm39) D195G probably damaging Het
Tmem39b T A 4: 129,586,311 (GRCm39) probably null Het
Vmn2r52 A G 7: 9,905,029 (GRCm39) V270A probably damaging Het
Wdr3 C A 3: 100,054,016 (GRCm39) probably null Het
Other mutations in Fkbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01151:Fkbp4 APN 6 128,412,754 (GRCm39) missense probably benign 0.28
IGL02607: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