Incidental Mutation 'IGL00484:Fkbp6'
ID5525
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 #IGL00484
Quality Score
Status
Chromosome5
Chromosomal Location135291704-135350044 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 135339948 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 213 (A213S)
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: A253S

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000043193
Gene: ENSMUSG00000040013
AA Change: A253S

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: A253S

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000144471
Gene: ENSMUSG00000040013
AA Change: A253S

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: A253S

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000144381
Gene: ENSMUSG00000040013
AA Change: A253S

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 possibly damaging
Transcript: ENSMUST00000201791
AA Change: A213S

PolyPhen 2 Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000144460
Gene: ENSMUSG00000040013
AA Change: A213S

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810013L24Rik T C 16: 8,831,311 probably benign Het
Adgra1 A G 7: 139,875,944 Q496R probably benign Het
Ankrd17 A T 5: 90,268,361 S1151T probably damaging Het
Ankrd55 A G 13: 112,367,794 K330R probably benign Het
Anln A T 9: 22,360,824 Y666* probably null Het
Atp1a2 A G 1: 172,276,002 W984R probably damaging Het
Atp8b3 G T 10: 80,526,164 probably benign Het
Casc3 A G 11: 98,823,202 E420G possibly damaging Het
Cep250 G A 2: 155,991,329 D1724N probably benign Het
Dhx15 T G 5: 52,166,812 E379D probably benign Het
Dock1 T A 7: 135,146,531 probably benign Het
Exph5 C T 9: 53,376,706 Q1696* probably null Het
Fndc4 A G 5: 31,293,496 probably benign Het
Gli3 A T 13: 15,644,392 T260S possibly damaging Het
Glmp T A 3: 88,325,862 probably null Het
Gm12794 T C 4: 101,941,701 F290L probably benign Het
Gm13101 G A 4: 143,966,614 probably benign Het
Hist1h2an G T 13: 21,786,921 R100S probably benign Het
Ighv1-19 G A 12: 114,708,709 T97I probably benign Het
Kdm6b T C 11: 69,406,306 S407G possibly damaging Het
Lrp1b T C 2: 41,110,861 Y2231C probably damaging Het
Lyst T A 13: 13,709,603 S2999T probably benign Het
Lztr1 T C 16: 17,517,450 probably benign Het
N4bp2 T C 5: 65,807,524 V972A probably damaging Het
Ncoa6 A T 2: 155,406,208 S1725R probably damaging Het
Nfkbiz A G 16: 55,817,909 V396A probably benign Het
Nup205 A G 6: 35,214,802 Q1074R probably damaging Het
Pard3 T C 8: 127,371,846 V456A probably benign Het
Peli1 T A 11: 21,146,952 V114E probably damaging Het
Phf20l1 T G 15: 66,615,633 probably benign Het
Pik3r1 A C 13: 101,701,747 I267S probably benign Het
Polh C T 17: 46,172,243 probably benign Het
Ppl A G 16: 5,087,952 I1493T probably benign Het
Prg3 A G 2: 84,988,747 I6V probably benign Het
Ptprg T C 14: 12,215,220 V1069A probably damaging Het
Rasal2 A T 1: 157,174,175 probably null Het
Slc36a2 A T 11: 55,162,788 Y341* probably null Het
Smim4 T A 14: 31,088,922 probably benign Het
Snapc3 A G 4: 83,436,396 I215V probably damaging Het
Srrm2 T A 17: 23,818,518 S1475T probably benign Het
Sycp2 A T 2: 178,382,348 D414E probably damaging Het
Tanc1 A G 2: 59,793,176 T468A probably benign Het
Tfap2d A G 1: 19,142,881 T310A probably benign Het
Tgfbr2 T A 9: 116,158,289 I51F probably benign Het
Trip11 A T 12: 101,885,311 C546* probably null Het
Ttbk2 C T 2: 120,773,886 W210* probably null Het
Upk1b T G 16: 38,780,016 N201H possibly damaging Het
Ush2a A T 1: 188,782,513 T3180S probably benign Het
Vps13d T G 4: 145,126,575 Q2323P probably benign Het
Zfp810 A T 9: 22,278,309 Y434* probably null Het
Other mutations in Fkbp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:Fkbp6 APN 5 135349696 missense probably damaging 0.97
IGL02217:Fkbp6 APN 5 135337630 missense probably benign 0.00
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
R7728:Fkbp6 UTSW 5 135339544 missense probably damaging 1.00
X0066:Fkbp6 UTSW 5 135337670 missense possibly damaging 0.94
Posted On2012-04-20