Incidental Mutation 'IGL02217:Fkbp6'
ID284948
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fkbp6
Ensembl Gene ENSMUSG00000040013
Gene NameFK506 binding protein 6
Synonyms1700008G22Rik, D5Ertd724e, 36kDa
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02217
Quality Score
Status
Chromosome5
Chromosomal Location135291704-135350044 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 135337630 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 284 (V284E)
Ref Sequence ENSEMBL: ENSMUSP00000144460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044972] [ENSMUST00000201534] [ENSMUST00000201784] [ENSMUST00000201791]
Predicted Effect probably benign
Transcript: ENSMUST00000044972
AA Change: V324E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000043193
Gene: ENSMUSG00000040013
AA Change: V324E

DomainStartEndE-ValueType
Pfam:FKBP_C 48 140 3.5e-20 PFAM
Blast:TPR 171 195 1e-7 BLAST
low complexity region 196 206 N/A INTRINSIC
Pfam:TPR_2 220 252 3.3e-4 PFAM
Pfam:TPR_2 253 284 5.4e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201534
AA Change: V324E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000144471
Gene: ENSMUSG00000040013
AA Change: V324E

DomainStartEndE-ValueType
Pfam:FKBP_C 48 140 3.5e-20 PFAM
Blast:TPR 171 195 1e-7 BLAST
low complexity region 196 206 N/A INTRINSIC
Pfam:TPR_2 220 252 3.3e-4 PFAM
Pfam:TPR_2 253 284 5.4e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201784
AA Change: V324E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000144381
Gene: ENSMUSG00000040013
AA Change: V324E

DomainStartEndE-ValueType
Pfam:FKBP_C 48 140 7.6e-20 PFAM
Blast:TPR 171 195 1e-7 BLAST
low complexity region 196 206 N/A INTRINSIC
Pfam:TPR_2 220 252 1.3e-4 PFAM
Pfam:TPR_2 253 284 2.1e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201791
AA Change: V284E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000144460
Gene: ENSMUSG00000040013
AA Change: V284E

DomainStartEndE-ValueType
Pfam:FKBP_C 48 140 5.9e-20 PFAM
low complexity region 153 166 N/A INTRINSIC
Pfam:TPR_2 180 212 1.1e-4 PFAM
Pfam:TPR_2 213 244 1.8e-4 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene is a member of the FK506-binding protein (Fkbp) family. The encoded protein plays a role in male-specific fertility and homologous pairing of chromosomes during meiosis. The protein may also be involved in LINE1 transposon silencing and binding to Hsp90 as a co-chaperone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit azoospermia and male infertility associated with arrest of male meiosis at the pachytene stage, and increased apoptosis of meiotic spermatocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik C A 18: 24,470,898 probably benign Het
Actn1 G A 12: 80,174,094 Q647* probably null Het
Adamts6 T A 13: 104,462,365 probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cabin1 G A 10: 75,700,047 T1389I possibly damaging Het
Cenpc1 A G 5: 86,029,200 probably benign Het
Clca4a T A 3: 144,961,996 T405S possibly damaging Het
Cntln G A 4: 85,100,258 V1168M probably damaging Het
Col18a1 A G 10: 77,053,298 S1494P probably damaging Het
Cps1 A T 1: 67,174,382 T758S probably benign Het
Cul3 A T 1: 80,283,767 M247K probably damaging Het
Cyp3a57 A G 5: 145,369,143 probably null Het
Dennd4c T A 4: 86,813,799 C917S probably benign Het
Dhrs11 A T 11: 84,822,395 Y166* probably null Het
Dtl A G 1: 191,568,314 V146A probably damaging Het
Exosc9 A G 3: 36,552,744 E20G probably damaging Het
Fer A G 17: 64,138,965 K437R probably benign Het
Foxq1 A T 13: 31,559,169 S85C probably damaging Het
Galnt12 T A 4: 47,113,832 S83R probably damaging Het
Gm5244 A T 19: 12,846,863 noncoding transcript Het
Gm765 T A 6: 98,248,072 E83D possibly damaging Het
Gm884 T C 11: 103,612,871 probably benign Het
Gpr156 A G 16: 38,005,311 D630G probably benign Het
Hace1 A T 10: 45,590,375 probably null Het
Hemgn G T 4: 46,396,420 T272K probably damaging Het
Ifi213 T G 1: 173,595,032 E89A possibly damaging Het
Jarid2 A G 13: 44,913,201 E954G probably damaging Het
Kcnu1 A G 8: 25,858,184 D126G probably damaging Het
Lbh A T 17: 72,921,252 I31F possibly damaging Het
Muc6 T C 7: 141,649,624 E490G probably damaging Het
Ncoa3 T C 2: 166,055,346 S686P probably damaging Het
Nme4 A G 17: 26,093,860 M108T probably damaging Het
Nod1 A C 6: 54,943,419 V638G possibly damaging Het
Nrip2 A G 6: 128,406,539 N70S probably damaging Het
Olfr1111 A G 2: 87,149,887 M258T probably benign Het
Olfr1344 T A 7: 6,440,245 I115N probably damaging Het
Pitrm1 G A 13: 6,567,341 probably benign Het
Proser1 A G 3: 53,471,491 K115E probably damaging Het
Ptov1 C T 7: 44,867,476 G70R probably damaging Het
Qtrt1 T G 9: 21,417,389 probably null Het
Rbbp8nl A G 2: 180,278,188 probably benign Het
Rtn3 G A 19: 7,435,084 T794I probably damaging Het
Setd4 A G 16: 93,593,295 L82P probably damaging Het
Shank2 C T 7: 144,285,047 L27F possibly damaging Het
Srpk2 A C 5: 23,545,570 V45G probably damaging Het
Utrn A G 10: 12,751,559 F57S probably damaging Het
Vcan T G 13: 89,703,077 T1255P probably damaging Het
Vmn2r16 A C 5: 109,339,810 H183P probably damaging Het
Wdr48 T C 9: 119,909,535 I286T probably benign Het
Other mutations in Fkbp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Fkbp6 APN 5 135339948 missense possibly damaging 0.57
IGL01448:Fkbp6 APN 5 135349696 missense probably damaging 0.97
IGL02956:Fkbp6 APN 5 135339496 missense probably damaging 1.00
R0106:Fkbp6 UTSW 5 135340004 missense probably benign 0.25
R0106:Fkbp6 UTSW 5 135340004 missense probably benign 0.25
R2259:Fkbp6 UTSW 5 135337614 critical splice donor site probably null
R2260:Fkbp6 UTSW 5 135337614 critical splice donor site probably null
R5820:Fkbp6 UTSW 5 135339920 critical splice donor site probably null
X0066:Fkbp6 UTSW 5 135337670 missense possibly damaging 0.94
Posted On2015-04-16