Incidental Mutation 'R6377:Fkbp15'
ID 515033
Institutional Source Beutler Lab
Gene Symbol Fkbp15
Ensembl Gene ENSMUSG00000066151
Gene Name FK506 binding protein 15
Synonyms C430014M02Rik, FKBP133
MMRRC Submission 044527-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6377 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 62218579-62278785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62242429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 508 (T508A)
Ref Sequence ENSEMBL: ENSMUSP00000095641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084527] [ENSMUST00000084528] [ENSMUST00000098033] [ENSMUST00000107461]
AlphaFold Q6P9Q6
Predicted Effect probably damaging
Transcript: ENSMUST00000084527
AA Change: T508A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000081575
Gene: ENSMUSG00000066151
AA Change: T508A

DomainStartEndE-ValueType
low complexity region 59 68 N/A INTRINSIC
Pfam:FKBP_C 190 286 4.8e-21 PFAM
low complexity region 302 322 N/A INTRINSIC
low complexity region 326 338 N/A INTRINSIC
internal_repeat_1 403 431 1.88e-10 PROSPERO
internal_repeat_1 472 500 1.88e-10 PROSPERO
coiled coil region 560 662 N/A INTRINSIC
coiled coil region 684 790 N/A INTRINSIC
coiled coil region 816 865 N/A INTRINSIC
coiled coil region 916 943 N/A INTRINSIC
low complexity region 952 964 N/A INTRINSIC
low complexity region 983 994 N/A INTRINSIC
low complexity region 1034 1045 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000084528
AA Change: T508A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000081576
Gene: ENSMUSG00000066151
AA Change: T508A

DomainStartEndE-ValueType
low complexity region 59 68 N/A INTRINSIC
Pfam:FKBP_C 190 286 2.4e-21 PFAM
low complexity region 302 322 N/A INTRINSIC
low complexity region 326 338 N/A INTRINSIC
internal_repeat_1 403 431 2.74e-10 PROSPERO
internal_repeat_1 472 500 2.74e-10 PROSPERO
coiled coil region 560 662 N/A INTRINSIC
coiled coil region 684 745 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000098033
AA Change: T508A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095641
Gene: ENSMUSG00000066151
AA Change: T508A

DomainStartEndE-ValueType
low complexity region 59 68 N/A INTRINSIC
Pfam:FKBP_C 190 286 1.9e-21 PFAM
low complexity region 302 322 N/A INTRINSIC
low complexity region 326 338 N/A INTRINSIC
internal_repeat_1 403 431 1.79e-8 PROSPERO
internal_repeat_1 472 500 1.79e-8 PROSPERO
coiled coil region 560 608 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107461
AA Change: T508A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103085
Gene: ENSMUSG00000066151
AA Change: T508A

DomainStartEndE-ValueType
low complexity region 59 68 N/A INTRINSIC
Pfam:FKBP_C 190 286 2e-21 PFAM
low complexity region 302 322 N/A INTRINSIC
low complexity region 326 338 N/A INTRINSIC
internal_repeat_1 403 431 1.86e-8 PROSPERO
internal_repeat_1 472 500 1.86e-8 PROSPERO
coiled coil region 560 608 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139308
Meta Mutation Damage Score 0.1447 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
Validation Efficiency 94% (59/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankib1 A G 5: 3,743,855 (GRCm39) S812P possibly damaging Het
Atp2c2 A G 8: 120,453,093 (GRCm39) E159G probably benign Het
Atrn A G 2: 130,821,889 (GRCm39) I861V probably damaging Het
Clip1 A G 5: 123,741,717 (GRCm39) V1053A possibly damaging Het
Cngb1 C A 8: 95,975,608 (GRCm39) G629C probably damaging Het
Cntn5 A T 9: 9,743,657 (GRCm39) F540Y probably damaging Het
Cpb1 A C 3: 20,329,748 (GRCm39) probably null Het
Cyp4a14 A G 4: 115,353,280 (GRCm39) Y11H probably benign Het
Dact2 A G 17: 14,419,450 (GRCm39) S103P probably damaging Het
Dcstamp A T 15: 39,618,317 (GRCm39) Y242F probably benign Het
Drd3 G T 16: 43,641,670 (GRCm39) G329* probably null Het
Duxf1 T C 10: 58,059,494 (GRCm39) probably benign Het
Dysf T A 6: 83,985,945 (GRCm39) S17T probably benign Het
Eno1 A T 4: 150,333,009 (GRCm39) K366N possibly damaging Het
Ffar2 C T 7: 30,518,971 (GRCm39) V190I probably benign Het
Fndc1 A G 17: 7,988,567 (GRCm39) V1165A unknown Het
Foxj3 A T 4: 119,430,945 (GRCm39) probably null Het
Gabarap T C 11: 69,882,630 (GRCm39) probably null Het
Gm19410 T A 8: 36,270,736 (GRCm39) L1221* probably null Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Igf1r A T 7: 67,850,998 (GRCm39) Y931F probably benign Het
Il23r A T 6: 67,400,636 (GRCm39) S565T probably damaging Het
Ipo8 A T 6: 148,717,995 (GRCm39) Y209* probably null Het
Jph2 C T 2: 163,181,632 (GRCm39) G511R probably benign Het
Khdrbs1 C A 4: 129,635,890 (GRCm39) D22Y probably damaging Het
Kif5b A T 18: 6,212,562 (GRCm39) L754Q probably damaging Het
Ksr1 C T 11: 78,927,320 (GRCm39) probably null Het
L3mbtl4 G T 17: 69,084,918 (GRCm39) V610F probably benign Het
Lars2 A G 9: 123,283,825 (GRCm39) T698A probably benign Het
Lonp1 A G 17: 56,928,961 (GRCm39) V267A possibly damaging Het
Loxhd1 T A 18: 77,468,128 (GRCm39) D925E probably damaging Het
Lsg1 A G 16: 30,393,386 (GRCm39) L187P possibly damaging Het
Mki67 A T 7: 135,298,050 (GRCm39) V2328E possibly damaging Het
Mlh3 A G 12: 85,315,271 (GRCm39) I305T probably damaging Het
Mtbp A G 15: 55,421,016 (GRCm39) M1V probably null Het
Myadml2 C A 11: 120,538,538 (GRCm39) C99F probably benign Het
Ncbp1 A G 4: 46,150,703 (GRCm39) Y185C probably damaging Het
Ndufaf7 A T 17: 79,250,739 (GRCm39) Q222L probably null Het
Nlrp4b A T 7: 10,449,339 (GRCm39) Y147F probably benign Het
Or4c11c C T 2: 88,661,613 (GRCm39) R51* probably null Het
Pet100 T C 8: 3,672,370 (GRCm39) V15A probably benign Het
Pot1a A G 6: 25,778,869 (GRCm39) V75A probably benign Het
Ptprs A T 17: 56,725,935 (GRCm39) M1043K probably damaging Het
Rnf31 A G 14: 55,832,984 (GRCm39) T413A probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Rubcnl A T 14: 75,287,635 (GRCm39) probably null Het
Ryr3 A T 2: 112,462,530 (GRCm39) C4839S probably damaging Het
Scai A C 2: 38,992,340 (GRCm39) D379E probably benign Het
Scd2 G T 19: 44,288,198 (GRCm39) G197* probably null Het
Sdr39u1 A C 14: 56,135,166 (GRCm39) I259S probably benign Het
Slco1a5 A T 6: 142,187,906 (GRCm39) probably null Het
Sp1 A T 15: 102,339,318 (GRCm39) T733S probably benign Het
Tecta A G 9: 42,255,051 (GRCm39) S1711P probably damaging Het
Tedc1 G T 12: 113,124,975 (GRCm39) W240L probably damaging Het
Trarg1 T C 11: 76,571,355 (GRCm39) S124P probably damaging Het
Trim50 A G 5: 135,382,454 (GRCm39) K102R probably benign Het
Utrn A G 10: 12,619,827 (GRCm39) Y278H probably damaging Het
Vinac1 T A 2: 128,878,731 (GRCm39) D1065V unknown Het
Vmn2r109 A C 17: 20,784,796 (GRCm39) probably null Het
Zbed5 T C 5: 129,932,210 (GRCm39) S720P possibly damaging Het
Zc3h3 A G 15: 75,711,304 (GRCm39) S386P probably damaging Het
Zscan4-ps1 C T 7: 10,802,418 (GRCm39) probably null Het
Other mutations in Fkbp15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00659:Fkbp15 APN 4 62,251,917 (GRCm39) splice site probably benign
IGL01326:Fkbp15 APN 4 62,241,487 (GRCm39) missense probably damaging 0.98
IGL01822:Fkbp15 APN 4 62,270,741 (GRCm39) missense probably benign
IGL01925:Fkbp15 APN 4 62,241,450 (GRCm39) missense probably damaging 1.00
IGL02190:Fkbp15 APN 4 62,223,059 (GRCm39) missense possibly damaging 0.69
IGL02276:Fkbp15 APN 4 62,254,703 (GRCm39) nonsense probably null
IGL02310:Fkbp15 APN 4 62,258,553 (GRCm39) missense probably damaging 1.00
IGL02954:Fkbp15 APN 4 62,239,302 (GRCm39) splice site probably benign
IGL02967:Fkbp15 APN 4 62,222,627 (GRCm39) missense probably damaging 0.96
IGL03136:Fkbp15 APN 4 62,258,466 (GRCm39) splice site probably benign
IGL03185:Fkbp15 APN 4 62,250,423 (GRCm39) splice site probably null
IGL03280:Fkbp15 APN 4 62,221,504 (GRCm39) unclassified probably benign
dura UTSW 4 62,242,363 (GRCm39) missense probably damaging 0.96
mater UTSW 4 62,244,373 (GRCm39) missense probably benign 0.22
R0419:Fkbp15 UTSW 4 62,244,373 (GRCm39) missense probably benign 0.22
R0838:Fkbp15 UTSW 4 62,242,363 (GRCm39) missense probably damaging 0.96
R1241:Fkbp15 UTSW 4 62,222,846 (GRCm39) missense possibly damaging 0.87
R1394:Fkbp15 UTSW 4 62,246,109 (GRCm39) missense probably benign 0.00
R1622:Fkbp15 UTSW 4 62,241,439 (GRCm39) missense possibly damaging 0.94
R1682:Fkbp15 UTSW 4 62,242,431 (GRCm39) missense probably damaging 0.98
R1823:Fkbp15 UTSW 4 62,255,328 (GRCm39) missense probably damaging 1.00
R1994:Fkbp15 UTSW 4 62,222,618 (GRCm39) missense probably benign 0.00
R2132:Fkbp15 UTSW 4 62,246,136 (GRCm39) missense probably damaging 1.00
R2133:Fkbp15 UTSW 4 62,246,136 (GRCm39) missense probably damaging 1.00
R2425:Fkbp15 UTSW 4 62,230,602 (GRCm39) missense probably benign 0.00
R2938:Fkbp15 UTSW 4 62,222,900 (GRCm39) missense probably benign 0.23
R3034:Fkbp15 UTSW 4 62,225,129 (GRCm39) splice site probably null
R3957:Fkbp15 UTSW 4 62,252,489 (GRCm39) missense probably benign 0.01
R3963:Fkbp15 UTSW 4 62,258,914 (GRCm39) missense probably damaging 1.00
R4235:Fkbp15 UTSW 4 62,254,693 (GRCm39) missense probably benign 0.38
R4334:Fkbp15 UTSW 4 62,221,456 (GRCm39) missense possibly damaging 0.95
R4366:Fkbp15 UTSW 4 62,254,651 (GRCm39) missense probably benign 0.38
R4717:Fkbp15 UTSW 4 62,226,306 (GRCm39) missense probably damaging 1.00
R4790:Fkbp15 UTSW 4 62,226,234 (GRCm39) missense probably benign 0.05
R5075:Fkbp15 UTSW 4 62,239,266 (GRCm39) missense probably damaging 0.96
R5176:Fkbp15 UTSW 4 62,230,560 (GRCm39) missense possibly damaging 0.68
R5419:Fkbp15 UTSW 4 62,246,114 (GRCm39) missense probably damaging 0.98
R5503:Fkbp15 UTSW 4 62,246,124 (GRCm39) missense probably benign 0.05
R5731:Fkbp15 UTSW 4 62,225,166 (GRCm39) missense probably benign 0.01
R5733:Fkbp15 UTSW 4 62,225,166 (GRCm39) missense probably benign 0.01
R5820:Fkbp15 UTSW 4 62,263,783 (GRCm39) missense probably benign 0.00
R5878:Fkbp15 UTSW 4 62,225,145 (GRCm39) missense probably benign
R5898:Fkbp15 UTSW 4 62,244,294 (GRCm39) critical splice donor site probably null
R5914:Fkbp15 UTSW 4 62,246,047 (GRCm39) splice site probably null
R6113:Fkbp15 UTSW 4 62,258,884 (GRCm39) missense probably benign 0.38
R6427:Fkbp15 UTSW 4 62,241,439 (GRCm39) missense probably benign 0.01
R6464:Fkbp15 UTSW 4 62,226,315 (GRCm39) missense possibly damaging 0.92
R6528:Fkbp15 UTSW 4 62,250,507 (GRCm39) missense probably damaging 1.00
R6790:Fkbp15 UTSW 4 62,222,996 (GRCm39) missense probably benign 0.01
R6880:Fkbp15 UTSW 4 62,254,732 (GRCm39) missense possibly damaging 0.71
R6911:Fkbp15 UTSW 4 62,258,527 (GRCm39) missense probably damaging 1.00
R7371:Fkbp15 UTSW 4 62,239,293 (GRCm39) missense possibly damaging 0.89
R7410:Fkbp15 UTSW 4 62,258,536 (GRCm39) missense probably damaging 1.00
R7660:Fkbp15 UTSW 4 62,232,578 (GRCm39) missense probably benign 0.08
R7992:Fkbp15 UTSW 4 62,230,538 (GRCm39) missense probably damaging 1.00
R8486:Fkbp15 UTSW 4 62,230,521 (GRCm39) nonsense probably null
R8697:Fkbp15 UTSW 4 62,239,295 (GRCm39) nonsense probably null
R8880:Fkbp15 UTSW 4 62,232,602 (GRCm39) missense probably benign
R8998:Fkbp15 UTSW 4 62,242,365 (GRCm39) missense probably damaging 1.00
R9236:Fkbp15 UTSW 4 62,254,664 (GRCm39) missense probably damaging 0.97
R9382:Fkbp15 UTSW 4 62,237,210 (GRCm39) missense probably damaging 0.99
R9654:Fkbp15 UTSW 4 62,230,553 (GRCm39) missense probably benign 0.01
X0013:Fkbp15 UTSW 4 62,230,607 (GRCm39) missense probably benign 0.36
Predicted Primers PCR Primer
(F):5'- TCTCTATTATCATGTGCTCATATGGT -3'
(R):5'- TGTGCTTCTCCTGACAGTGT -3'

Sequencing Primer
(F):5'- AAACTCAGGTCACTGTGCTTG -3'
(R):5'- TCTCCTGACAGTGTGAAATCAC -3'
Posted On 2018-05-04