Incidental Mutation 'IGL03104:Fkbp5'
ID 418868
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fkbp5
Ensembl Gene ENSMUSG00000024222
Gene Name FK506 binding protein 5
Synonyms D17Ertd592e, FKBP51, Dit1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03104
Quality Score
Status
Chromosome 17
Chromosomal Location 28617727-28705123 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28634946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 188 (F188L)
Ref Sequence ENSEMBL: ENSMUSP00000116466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079413] [ENSMUST00000114792] [ENSMUST00000153744] [ENSMUST00000177939]
AlphaFold Q64378
Predicted Effect probably damaging
Transcript: ENSMUST00000079413
AA Change: F188L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078382
Gene: ENSMUSG00000024222
AA Change: F188L

DomainStartEndE-ValueType
Pfam:FKBP_C 43 135 7.1e-31 PFAM
Pfam:FKBP_C 158 248 2.1e-14 PFAM
TPR 268 301 9.48e1 SMART
TPR 317 350 1.45e-6 SMART
TPR 351 384 1.23e-4 SMART
low complexity region 421 440 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114792
AA Change: F188L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110440
Gene: ENSMUSG00000024222
AA Change: F188L

DomainStartEndE-ValueType
Pfam:FKBP_C 43 135 7.1e-31 PFAM
Pfam:FKBP_C 158 248 2.1e-14 PFAM
TPR 268 301 9.48e1 SMART
TPR 317 350 1.45e-6 SMART
TPR 351 384 1.23e-4 SMART
low complexity region 421 440 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143685
Predicted Effect probably damaging
Transcript: ENSMUST00000153744
AA Change: F188L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116466
Gene: ENSMUSG00000024222
AA Change: F188L

DomainStartEndE-ValueType
Pfam:FKBP_C 43 135 8e-32 PFAM
internal_repeat_1 138 182 6.75e-5 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000177939
AA Change: F188L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136245
Gene: ENSMUSG00000024222
AA Change: F188L

DomainStartEndE-ValueType
Pfam:FKBP_C 43 135 8.8e-32 PFAM
Pfam:FKBP_C 158 248 1.8e-15 PFAM
TPR 268 301 9.48e1 SMART
TPR 317 350 1.45e-6 SMART
TPR 351 384 1.23e-4 SMART
low complexity region 421 440 N/A INTRINSIC
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 is thought to mediate calcineurin inhibition. It also interacts functionally with mature hetero-oligomeric progesterone receptor complexes along with the 90 kDa heat shock protein and P23 protein. This gene has been found to have multiple polyadenylation sites. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a null allele are normal and fertile. Mice homozygous for another knock-out allele exhibit decreased depression-related behavior and increased anxiety-related behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 C A 1: 58,321,918 (GRCm39) T70K probably benign Het
Armt1 T A 10: 4,389,615 (GRCm39) Y91N possibly damaging Het
Atp1a2 A G 1: 172,120,934 (GRCm39) L46S probably damaging Het
Baz1a A G 12: 54,941,743 (GRCm39) S1488P probably damaging Het
Coro7 T A 16: 4,446,990 (GRCm39) E793V probably damaging Het
Ctnnbl1 G T 2: 157,732,885 (GRCm39) R555L probably damaging Het
Dclk2 A G 3: 86,743,666 (GRCm39) C268R probably damaging Het
Dock7 A T 4: 98,847,260 (GRCm39) M1684K possibly damaging Het
Dock8 T A 19: 25,178,384 (GRCm39) C2092* probably null Het
Dtx1 T A 5: 120,833,030 (GRCm39) Q136L possibly damaging Het
Egln3 C T 12: 54,249,981 (GRCm39) probably benign Het
Eml5 A T 12: 98,827,504 (GRCm39) Y575* probably null Het
Entpd5 A T 12: 84,431,022 (GRCm39) V310E probably damaging Het
Frrs1 T C 3: 116,675,431 (GRCm39) S120P probably benign Het
Gadl1 T C 9: 115,903,108 (GRCm39) I479T possibly damaging Het
Gfra2 A T 14: 71,205,725 (GRCm39) M106L probably benign Het
Gm17455 T A 10: 60,239,060 (GRCm39) C108* probably null Het
Grhpr A G 4: 44,983,867 (GRCm39) probably benign Het
Hsp90ab1 G A 17: 45,882,449 (GRCm39) R82C probably damaging Het
Igsf10 T C 3: 59,226,905 (GRCm39) Y2256C probably damaging Het
Ivd A T 2: 118,703,384 (GRCm39) I160F probably benign Het
Krtap5-5 A G 7: 141,783,450 (GRCm39) C67R unknown Het
Lhx4 A T 1: 155,580,967 (GRCm39) V186E probably damaging Het
Lrrk2 T C 15: 91,631,958 (GRCm39) I1294T possibly damaging Het
Map3k5 C T 10: 20,007,801 (GRCm39) S1202L probably benign Het
Mdfic T A 6: 15,770,319 (GRCm39) N108K probably damaging Het
Mov10 G A 3: 104,704,623 (GRCm39) R763W probably damaging Het
Mto1 T C 9: 78,356,802 (GRCm39) S106P probably damaging Het
Naca C T 10: 127,876,233 (GRCm39) probably benign Het
Or10j27 A G 1: 172,958,526 (GRCm39) V86A probably benign Het
Or8s10 A G 15: 98,336,127 (GRCm39) Y259C possibly damaging Het
Pan2 T C 10: 128,151,532 (GRCm39) probably benign Het
Pold1 T C 7: 44,190,004 (GRCm39) Y394C probably damaging Het
Sipa1l1 T A 12: 82,388,904 (GRCm39) S377T probably benign Het
Sirpd G T 3: 15,397,283 (GRCm39) probably benign Het
Slc36a3 A G 11: 55,015,946 (GRCm39) S403P probably damaging Het
Slc4a4 A G 5: 89,297,231 (GRCm39) T480A probably damaging Het
Slu7 G A 11: 43,332,883 (GRCm39) V315I probably benign Het
St6galnac3 T C 3: 152,911,115 (GRCm39) E282G probably damaging Het
Tlr12 A G 4: 128,509,685 (GRCm39) V855A probably benign Het
Tut7 T C 13: 59,962,717 (GRCm39) D350G probably benign Het
Vmn1r53 T A 6: 90,200,944 (GRCm39) K127* probably null Het
Vmn1r72 T G 7: 11,403,812 (GRCm39) H212P probably damaging Het
Vmn2r86 T A 10: 130,282,501 (GRCm39) Q705L probably damaging Het
Vps33b C T 7: 79,925,831 (GRCm39) R93C probably damaging Het
Wdr91 T A 6: 34,882,491 (GRCm39) E219D probably benign Het
Zan G A 5: 137,461,762 (GRCm39) T1139I unknown Het
Zc3hav1 T A 6: 38,317,278 (GRCm39) K107N probably damaging Het
Zmym2 A G 14: 57,187,784 (GRCm39) E1150G possibly damaging Het
Other mutations in Fkbp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00551:Fkbp5 APN 17 28,620,020 (GRCm39) utr 3 prime probably benign
R0242:Fkbp5 UTSW 17 28,647,426 (GRCm39) missense probably benign 0.01
R0242:Fkbp5 UTSW 17 28,647,426 (GRCm39) missense probably benign 0.01
R0531:Fkbp5 UTSW 17 28,657,003 (GRCm39) missense probably benign 0.00
R1557:Fkbp5 UTSW 17 28,621,729 (GRCm39) missense probably damaging 0.96
R1853:Fkbp5 UTSW 17 28,648,281 (GRCm39) missense possibly damaging 0.82
R2102:Fkbp5 UTSW 17 28,625,162 (GRCm39) missense possibly damaging 0.81
R2194:Fkbp5 UTSW 17 28,657,001 (GRCm39) missense probably benign 0.32
R3522:Fkbp5 UTSW 17 28,634,970 (GRCm39) missense probably benign 0.00
R4959:Fkbp5 UTSW 17 28,647,343 (GRCm39) missense probably damaging 1.00
R4973:Fkbp5 UTSW 17 28,647,343 (GRCm39) missense probably damaging 1.00
R5164:Fkbp5 UTSW 17 28,656,964 (GRCm39) critical splice donor site probably null
R6053:Fkbp5 UTSW 17 28,647,440 (GRCm39) missense probably benign 0.00
R6443:Fkbp5 UTSW 17 28,648,253 (GRCm39) missense probably damaging 1.00
R6989:Fkbp5 UTSW 17 28,634,919 (GRCm39) missense probably benign 0.01
R7027:Fkbp5 UTSW 17 28,631,037 (GRCm39) missense probably damaging 1.00
R7454:Fkbp5 UTSW 17 28,634,999 (GRCm39) missense probably damaging 0.97
R7635:Fkbp5 UTSW 17 28,647,335 (GRCm39) missense probably benign 0.00
R7708:Fkbp5 UTSW 17 28,657,071 (GRCm39) missense probably benign
R7862:Fkbp5 UTSW 17 28,631,013 (GRCm39) missense probably damaging 1.00
R7920:Fkbp5 UTSW 17 28,648,213 (GRCm39) missense possibly damaging 0.92
R8435:Fkbp5 UTSW 17 28,621,752 (GRCm39) missense possibly damaging 0.84
R8471:Fkbp5 UTSW 17 28,634,943 (GRCm39) missense probably benign 0.00
R9267:Fkbp5 UTSW 17 28,629,558 (GRCm39) missense probably benign 0.02
Posted On 2016-08-02