Incidental Mutation 'IGL03186:Fkbp4'
ID 412465
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 # IGL03186
Quality Score
Status
Chromosome 6
Chromosomal Location 128407066-128415619 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128411763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 109 (T109A)
Ref Sequence ENSEMBL: ENSMUSP00000122087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032508] [ENSMUST00000150387] [ENSMUST00000151796]
AlphaFold P30416
Predicted Effect probably benign
Transcript: ENSMUST00000032508
AA Change: T156A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032508
Gene: ENSMUSG00000030357
AA Change: T156A

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
AA Change: T109A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119930
Gene: ENSMUSG00000030357
AA Change: T109A

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
AA Change: T109A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122087
Gene: ENSMUSG00000030357
AA Change: T109A

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,581,737 (GRCm39) I4769T possibly damaging Het
Ankrd53 T C 6: 83,740,695 (GRCm39) I106T probably benign Het
Arsi A G 18: 61,050,545 (GRCm39) D476G probably damaging Het
Atp2c1 T C 9: 105,290,329 (GRCm39) K760E probably benign Het
C030048H21Rik A G 2: 26,143,350 (GRCm39) probably null Het
Cep152 A G 2: 125,405,895 (GRCm39) S1546P probably benign Het
Cimap1c T G 9: 56,756,356 (GRCm39) N220T probably benign Het
Clock T C 5: 76,390,929 (GRCm39) H291R probably damaging Het
Igkv1-117 T C 6: 68,098,783 (GRCm39) Y111H probably damaging Het
Kif20b A T 19: 34,912,344 (GRCm39) E250V probably benign Het
Mef2c A G 13: 83,800,987 (GRCm39) N229S probably benign Het
Ndufa9 A G 6: 126,821,855 (GRCm39) V36A possibly damaging Het
Neb T C 2: 52,100,671 (GRCm39) probably benign Het
Neb G A 2: 52,059,100 (GRCm39) H213Y probably damaging Het
Neurl1a T A 19: 47,228,916 (GRCm39) F152Y probably damaging Het
Nlrp14 G T 7: 106,785,877 (GRCm39) C651F probably damaging Het
Or4a2 T A 2: 89,248,188 (GRCm39) T190S probably damaging Het
Or5ac20 A T 16: 59,104,266 (GRCm39) V198E probably damaging Het
Or7g21 T A 9: 19,033,200 (GRCm39) D316E probably benign Het
Pex2 C A 3: 5,626,777 (GRCm39) A11S probably benign Het
Pitpna C A 11: 75,503,076 (GRCm39) H137N probably benign Het
Pole T G 5: 110,447,786 (GRCm39) probably null Het
Rft1 T A 14: 30,380,306 (GRCm39) I35N possibly damaging Het
Serpina1e T C 12: 103,915,462 (GRCm39) H248R probably benign Het
Sgsm1 C T 5: 113,432,887 (GRCm39) A254T probably benign Het
St3gal3 G A 4: 117,797,251 (GRCm39) P331S possibly damaging Het
Ttn T A 2: 76,602,106 (GRCm39) K16773* probably null Het
Zfp687 T C 3: 94,918,405 (GRCm39) T456A probably benign Het
Zranb1 A G 7: 132,551,932 (GRCm39) I220M 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
IGL02607:Fkbp4 APN 6 128,411,433 (GRCm39) splice site 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 2016-08-02