Incidental Mutation 'R2260:Fkbp6'
ID 243720
Institutional Source Beutler Lab
Gene Symbol Fkbp6
Ensembl Gene ENSMUSG00000040013
Gene Name FK506 binding protein 6
Synonyms 1700008G22Rik, D5Ertd724e
MMRRC Submission 040260-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2260 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 135320558-135378898 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 135366468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044972] [ENSMUST00000201534] [ENSMUST00000201784] [ENSMUST00000201791]
AlphaFold Q91XW8
Predicted Effect probably null
Transcript: ENSMUST00000044972
SMART Domains Protein: ENSMUSP00000043193
Gene: ENSMUSG00000040013

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
SMART Domains Protein: ENSMUSP00000144471
Gene: ENSMUSG00000040013

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
SMART Domains Protein: ENSMUSP00000144381
Gene: ENSMUSG00000040013

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 null
Transcript: ENSMUST00000201791
SMART Domains Protein: ENSMUSP00000144460
Gene: ENSMUSG00000040013

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.7%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,354,978 (GRCm39) N1252I probably damaging Het
Acot5 A T 12: 84,122,643 (GRCm39) H409L possibly damaging Het
Adgrv1 A T 13: 81,716,493 (GRCm39) V840E probably damaging Het
Adnp2 A T 18: 80,171,664 (GRCm39) M915K probably benign Het
Cd101 G C 3: 100,924,261 (GRCm39) L393V possibly damaging Het
Cd177 A G 7: 24,455,661 (GRCm39) V287A possibly damaging Het
Cdc37l1 A T 19: 28,984,448 (GRCm39) K194N probably benign Het
Cep126 T C 9: 8,101,749 (GRCm39) T262A possibly damaging Het
Chit1 A G 1: 134,078,865 (GRCm39) S392G probably benign Het
Col11a2 A G 17: 34,258,651 (GRCm39) H8R probably benign Het
Dusp12 C T 1: 170,708,580 (GRCm39) R120H probably damaging Het
Eln C A 5: 134,758,508 (GRCm39) A126S unknown Het
Entpd2 C T 2: 25,288,099 (GRCm39) P108S probably damaging Het
Ftcd T A 10: 76,423,893 (GRCm39) probably null Het
Gdf10 T C 14: 33,654,234 (GRCm39) L247P probably damaging Het
Gigyf1 C A 5: 137,518,594 (GRCm39) A215E possibly damaging Het
Gja4 C A 4: 127,206,623 (GRCm39) D47Y probably damaging Het
Gsn G A 2: 35,180,349 (GRCm39) G130E probably damaging Het
Hrc C A 7: 44,986,105 (GRCm39) R419S possibly damaging Het
Itfg1 C T 8: 86,449,306 (GRCm39) C576Y probably damaging Het
Lama1 G T 17: 68,044,502 (GRCm39) A134S probably damaging Het
Larp4 T G 15: 99,895,277 (GRCm39) F283L possibly damaging Het
Marveld2 A G 13: 100,748,978 (GRCm39) S34P probably benign Het
Mettl18 T A 1: 163,824,394 (GRCm39) D238E probably benign Het
Mfn1 G T 3: 32,617,575 (GRCm39) E74* probably null Het
Mfn2 C A 4: 147,979,063 (GRCm39) E90* probably null Het
Mill2 T A 7: 18,590,413 (GRCm39) D164E probably benign Het
Ncapd3 A G 9: 26,967,368 (GRCm39) D568G probably benign Het
Nt5c1b A T 12: 10,424,965 (GRCm39) R170S probably damaging Het
Or10ak11 T C 4: 118,687,359 (GRCm39) I93V probably damaging Het
Or4c100 G A 2: 88,356,730 (GRCm39) V268I possibly damaging Het
Or5bw2 A T 7: 6,573,022 (GRCm39) I11F probably damaging Het
Or8d1b T C 9: 38,887,296 (GRCm39) V108A probably benign Het
Pald1 G A 10: 61,188,750 (GRCm39) R87W probably damaging Het
Paox T A 7: 139,713,967 (GRCm39) Y242* probably null Het
Pde2a A T 7: 101,133,774 (GRCm39) D85V probably damaging Het
Pitrm1 C T 13: 6,610,161 (GRCm39) T411I probably damaging Het
Pkd1l3 A G 8: 110,350,268 (GRCm39) Q371R probably benign Het
Plaat5 C T 19: 7,590,111 (GRCm39) R46C probably damaging Het
Ptprk A G 10: 28,082,145 (GRCm39) D38G possibly damaging Het
Rag2 G A 2: 101,460,583 (GRCm39) E298K probably benign Het
Rbm12b2 G A 4: 12,095,061 (GRCm39) R640H probably benign Het
Rcsd1 C T 1: 165,486,998 (GRCm39) A72T probably benign Het
Rims2 G T 15: 39,341,962 (GRCm39) E604* probably null Het
Rin2 A G 2: 145,720,824 (GRCm39) D719G probably damaging Het
Sash1 G A 10: 8,662,142 (GRCm39) Q155* probably null Het
Tacr1 A T 6: 82,380,756 (GRCm39) I56F probably damaging Het
Tbc1d4 G A 14: 101,731,847 (GRCm39) T455M probably damaging Het
Tex24 C T 8: 27,834,883 (GRCm39) T137I probably damaging Het
Tmem200a A C 10: 25,869,313 (GRCm39) S319A probably benign Het
Tmem242 G T 17: 5,483,745 (GRCm39) A99E probably damaging Het
Tmem30a C T 9: 79,681,446 (GRCm39) R277H probably benign Het
Tmprss11f G A 5: 86,739,269 (GRCm39) A4V probably benign Het
Triobp T G 15: 78,875,640 (GRCm39) probably null Het
Tshz2 A T 2: 169,728,326 (GRCm39) Q505L probably benign Het
Ttyh1 T C 7: 4,131,183 (GRCm39) V218A probably damaging Het
Vmn2r11 A T 5: 109,201,657 (GRCm39) Y282* probably null Het
Vps13c A G 9: 67,861,142 (GRCm39) N2891S probably benign Het
Xpo5 C T 17: 46,551,822 (GRCm39) Q1050* probably null Het
Other mutations in Fkbp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Fkbp6 APN 5 135,368,802 (GRCm39) missense possibly damaging 0.57
IGL01448:Fkbp6 APN 5 135,378,550 (GRCm39) missense probably damaging 0.97
IGL02217:Fkbp6 APN 5 135,366,484 (GRCm39) missense probably benign 0.00
IGL02956:Fkbp6 APN 5 135,368,350 (GRCm39) missense probably damaging 1.00
R0106:Fkbp6 UTSW 5 135,368,858 (GRCm39) missense probably benign 0.25
R0106:Fkbp6 UTSW 5 135,368,858 (GRCm39) missense probably benign 0.25
R2259:Fkbp6 UTSW 5 135,366,468 (GRCm39) critical splice donor site probably null
R5820:Fkbp6 UTSW 5 135,368,774 (GRCm39) critical splice donor site probably null
R7728:Fkbp6 UTSW 5 135,368,398 (GRCm39) missense probably damaging 1.00
R8249:Fkbp6 UTSW 5 135,378,806 (GRCm39) missense possibly damaging 0.54
R9457:Fkbp6 UTSW 5 135,378,486 (GRCm39) missense probably benign 0.00
R9608:Fkbp6 UTSW 5 135,375,027 (GRCm39) missense probably damaging 0.99
X0066:Fkbp6 UTSW 5 135,366,524 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- TTGAATGGGAGAGCTCAGGACC -3'
(R):5'- TCTTCATTGACTGATAGCCAATGC -3'

Sequencing Primer
(F):5'- GGACCTCCCAAACATGAATGTAAG -3'
(R):5'- CCAATGCTGACTTTTTAGTGGC -3'
Posted On 2014-10-16