Incidental Mutation 'R2259:Fkbp6'
ID 243621
Institutional Source Beutler Lab
Gene Symbol Fkbp6
Ensembl Gene ENSMUSG00000040013
Gene Name FK506 binding protein 6
Synonyms 1700008G22Rik, D5Ertd724e
MMRRC Submission 040259-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2259 (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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T G 5: 129,189,375 (GRCm39) S91A possibly damaging Het
Ankrd13b T G 11: 77,367,168 (GRCm39) N247T probably damaging Het
Atp10b A G 11: 43,063,572 (GRCm39) D169G probably damaging Het
Atp10b G A 11: 43,080,440 (GRCm39) V239M probably damaging Het
Cflar C T 1: 58,768,280 (GRCm39) T121I probably benign Het
Clca3b T C 3: 144,552,142 (GRCm39) N180D possibly damaging Het
Cnbd2 T A 2: 156,177,192 (GRCm39) I62N probably damaging Het
Col11a2 A G 17: 34,258,651 (GRCm39) H8R probably benign Het
Cyp2a4 C T 7: 26,008,460 (GRCm39) L201F probably damaging Het
D630003M21Rik A T 2: 158,046,631 (GRCm39) L782Q probably damaging Het
Dctn1 C A 6: 83,174,568 (GRCm39) H1065N possibly damaging Het
Dgcr2 A T 16: 17,662,841 (GRCm39) probably null Het
Dlg4 T C 11: 69,922,196 (GRCm39) I143T probably damaging Het
E2f7 T G 10: 110,582,204 (GRCm39) N4K probably damaging Het
Eef2kmt C T 16: 5,063,172 (GRCm39) V323I probably benign Het
Eif2ak4 A C 2: 118,286,264 (GRCm39) I1017L probably damaging Het
Eln C A 5: 134,758,508 (GRCm39) A126S unknown Het
Exoc7 T C 11: 116,197,237 (GRCm39) S35G probably damaging Het
Fam187a A G 11: 102,776,124 (GRCm39) probably benign Het
Flnc G A 6: 29,438,665 (GRCm39) W186* probably null Het
Fmn2 T A 1: 174,330,498 (GRCm39) L296H unknown Het
Galnt14 C A 17: 73,801,261 (GRCm39) M520I probably benign Het
Gba2 A G 4: 43,570,107 (GRCm39) C396R probably benign Het
Gigyf1 C A 5: 137,518,594 (GRCm39) A215E possibly damaging Het
Glb1 C T 9: 114,272,100 (GRCm39) Q246* probably null Het
Gm11565 T G 11: 99,805,844 (GRCm39) C79G possibly damaging Het
Gpr160 A G 3: 30,950,444 (GRCm39) Y172C probably damaging Het
Ift52 A G 2: 162,870,013 (GRCm39) N159S probably benign Het
Insrr A G 3: 87,707,759 (GRCm39) D67G probably damaging Het
Insyn2a T A 7: 134,519,396 (GRCm39) E378V probably damaging Het
Irf2 A G 8: 47,290,868 (GRCm39) Y230C probably benign Het
Jmjd6 T C 11: 116,732,140 (GRCm39) H187R probably damaging Het
Kdm2b C T 5: 123,020,479 (GRCm39) G90S probably damaging Het
Kif7 C T 7: 79,361,337 (GRCm39) G118D probably damaging Het
Klhl38 G C 15: 58,178,374 (GRCm39) T532S possibly damaging Het
Kmt2a G T 9: 44,792,440 (GRCm39) probably benign Het
Lama2 A G 10: 26,907,123 (GRCm39) L2346S probably benign Het
Marveld2 A G 13: 100,748,978 (GRCm39) S34P probably benign Het
Mllt6 T C 11: 97,555,802 (GRCm39) V44A probably damaging Het
Muc5ac A G 7: 141,344,745 (GRCm39) N72S probably benign Het
Myo7a T G 7: 97,718,706 (GRCm39) D1388A probably damaging Het
Ncapd3 A G 9: 26,967,368 (GRCm39) D568G probably benign Het
Ncoa1 A C 12: 4,365,819 (GRCm39) H82Q probably damaging Het
Npbwr1 C A 1: 5,986,877 (GRCm39) L212F probably damaging Het
Nptx1 T G 11: 119,434,142 (GRCm39) I315L probably benign Het
Npy2r G T 3: 82,448,661 (GRCm39) P38Q possibly damaging Het
Ocln A T 13: 100,671,537 (GRCm39) D24E probably damaging Het
Or14c41 T A 7: 86,235,092 (GRCm39) V203D 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
Pde2a A T 7: 101,133,774 (GRCm39) D85V probably damaging Het
Phf3 A G 1: 30,843,424 (GRCm39) V1845A probably benign Het
Plch1 T A 3: 63,605,398 (GRCm39) Q1493L possibly damaging Het
Pold1 T C 7: 44,190,908 (GRCm39) probably benign Het
Polq T C 16: 36,882,459 (GRCm39) V1541A probably benign Het
Psmd3 T A 11: 98,581,790 (GRCm39) M305K probably benign Het
Pura T C 18: 36,420,803 (GRCm39) F197L possibly damaging Het
Rab3gap2 T A 1: 184,954,056 (GRCm39) W43R probably damaging Het
Repin1 A G 6: 48,573,464 (GRCm39) Q128R probably benign Het
Rnf208 G A 2: 25,133,656 (GRCm39) V117I probably damaging Het
Rpe65 A G 3: 159,321,208 (GRCm39) Y340C probably damaging Het
Ryr1 C A 7: 28,719,166 (GRCm39) V4414L unknown Het
Sephs2 T C 7: 126,872,649 (GRCm39) E148G possibly damaging Het
Spns2 T A 11: 72,348,094 (GRCm39) Q291L probably benign Het
Ssc5d C T 7: 4,946,915 (GRCm39) P1090S probably benign Het
Tasp1 A T 2: 139,793,426 (GRCm39) V250D probably damaging Het
Tcaf3 A G 6: 42,568,364 (GRCm39) I664T possibly damaging Het
Tg T C 15: 66,555,747 (GRCm39) V813A probably benign Het
Tmem132c T C 5: 127,581,988 (GRCm39) L401P probably benign Het
Tmem138 T C 19: 10,548,967 (GRCm39) N101S 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
Tmt1a A T 15: 100,211,049 (GRCm39) I174F probably benign Het
Tnni3 T A 7: 4,522,405 (GRCm39) I182F probably benign Het
Trim30a T A 7: 104,060,711 (GRCm39) D355V probably damaging Het
Trim35 C T 14: 66,546,711 (GRCm39) R493* probably null Het
Trip10 G C 17: 57,562,135 (GRCm39) V254L probably benign 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
Unc13b A T 4: 43,182,780 (GRCm39) E3163V possibly damaging Het
Unc45b T A 11: 82,808,625 (GRCm39) M237K probably benign Het
Usp8 A G 2: 126,600,488 (GRCm39) T1080A probably benign Het
Vmn2r65 T A 7: 84,590,119 (GRCm39) H599L possibly damaging 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
Zfp407 G T 18: 84,227,918 (GRCm39) T1897K probably damaging Het
Zzef1 C T 11: 72,791,459 (GRCm39) R2188* 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
R2260: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