Incidental Mutation 'R0838:Fkbp15'
ID 78030
Institutional Source Beutler Lab
Gene Symbol Fkbp15
Ensembl Gene ENSMUSG00000066151
Gene Name FK506 binding protein 15
Synonyms C430014M02Rik, FKBP133
MMRRC Submission 039017-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0838 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 62218579-62278785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 62242363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 530 (H530N)
Ref Sequence ENSEMBL: ENSMUSP00000081575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084527] [ENSMUST00000084528] [ENSMUST00000098033] [ENSMUST00000107461]
AlphaFold Q6P9Q6
Predicted Effect probably damaging
Transcript: ENSMUST00000084527
AA Change: H530N

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081575
Gene: ENSMUSG00000066151
AA Change: H530N

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 possibly damaging
Transcript: ENSMUST00000084528
AA Change: H530N

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000081576
Gene: ENSMUSG00000066151
AA Change: H530N

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 possibly damaging
Transcript: ENSMUST00000098033
AA Change: H530N

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095641
Gene: ENSMUSG00000066151
AA Change: H530N

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 possibly damaging
Transcript: ENSMUST00000107461
AA Change: H530N

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103085
Gene: ENSMUSG00000066151
AA Change: H530N

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 0.1016 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 94.3%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik T A 7: 130,963,535 (GRCm39) M53L probably damaging Het
Adamts6 A G 13: 104,550,297 (GRCm39) N638D possibly damaging Het
Amy2b T C 3: 113,058,317 (GRCm39) noncoding transcript Het
Ap5s1 G A 2: 131,053,351 (GRCm39) R45K probably damaging Het
Arap1 T C 7: 101,049,619 (GRCm39) Y994H probably damaging Het
Arrdc3 A T 13: 81,037,366 (GRCm39) probably benign Het
Bard1 G A 1: 71,069,812 (GRCm39) T722M probably damaging Het
Ccdc88a A G 11: 29,350,285 (GRCm39) Y89C probably damaging Het
Cd96 A G 16: 45,938,289 (GRCm39) S59P probably damaging Het
Chit1 T A 1: 134,071,075 (GRCm39) C51* probably null Het
Cilp2 G T 8: 70,334,369 (GRCm39) H876Q probably benign Het
Cyld A G 8: 89,467,978 (GRCm39) E722G probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dedd2 T C 7: 24,910,612 (GRCm39) E188G probably benign Het
Dnah17 A T 11: 117,950,930 (GRCm39) W2898R probably damaging Het
Dpy19l1 T C 9: 24,343,727 (GRCm39) T473A probably damaging Het
Fam228a T A 12: 4,785,002 (GRCm39) H43L possibly damaging Het
Gga1 C T 15: 78,776,118 (GRCm39) S387L probably damaging Het
Gm4868 A G 5: 125,925,687 (GRCm39) noncoding transcript Het
Guk1 G A 11: 59,075,921 (GRCm39) R146C probably damaging Het
Itgb4 A C 11: 115,888,988 (GRCm39) probably benign Het
Jag1 G A 2: 136,935,198 (GRCm39) T388I probably damaging Het
Kcnh1 A G 1: 192,095,514 (GRCm39) D551G probably damaging Het
Lrp2bp A G 8: 46,478,161 (GRCm39) D270G possibly damaging Het
Map3k19 C A 1: 127,751,696 (GRCm39) V552F probably benign Het
Mixl1 A T 1: 180,524,365 (GRCm39) D71E probably benign Het
Myocd A G 11: 65,069,758 (GRCm39) I694T probably benign Het
Nadk2 T A 15: 9,091,322 (GRCm39) S198T probably benign Het
Npepps A T 11: 97,158,518 (GRCm39) probably benign Het
Nt5c1b C T 12: 10,425,071 (GRCm39) Q206* probably null Het
Or51b17 T A 7: 103,542,622 (GRCm39) I107F probably benign Het
Orm1 A G 4: 63,263,394 (GRCm39) Y69C probably damaging Het
Plscr4 T A 9: 92,353,813 (GRCm39) probably benign Het
Pon1 G A 6: 5,175,758 (GRCm39) T188I possibly damaging Het
Ppm1a T A 12: 72,831,094 (GRCm39) H206Q probably benign Het
Prl8a1 G A 13: 27,758,008 (GRCm39) R234C probably damaging Het
Rfx3 C T 19: 27,827,367 (GRCm39) R73Q possibly damaging Het
Rims2 T C 15: 39,544,421 (GRCm39) V1466A probably benign Het
Sec24d T A 3: 123,099,485 (GRCm39) F319L probably benign Het
Slc15a4 A G 5: 127,694,067 (GRCm39) S123P possibly damaging Het
Slc1a6 A T 10: 78,632,056 (GRCm39) D294V probably damaging Het
Slc28a3 A T 13: 58,736,083 (GRCm39) D38E probably benign Het
Spata31d1e A G 13: 59,890,282 (GRCm39) S513P possibly damaging Het
Stard3nl A G 13: 19,556,756 (GRCm39) probably null Het
Stard9 A G 2: 120,531,323 (GRCm39) T2527A probably damaging Het
Sult3a1 C T 10: 33,755,284 (GRCm39) P283L probably damaging Het
Tgtp1 A G 11: 48,877,970 (GRCm39) V245A probably benign Het
Txndc16 T C 14: 45,402,876 (GRCm39) probably benign Het
Zdhhc8 A G 16: 18,042,430 (GRCm39) L590S probably damaging Het
Zfp1005 T A 2: 150,111,220 (GRCm39) C637S possibly damaging Het
Zfp366 A G 13: 99,365,118 (GRCm39) E93G possibly damaging Het
Zfp69 T C 4: 120,788,478 (GRCm39) N279S probably benign Het
Zscan10 T C 17: 23,829,008 (GRCm39) S407P possibly damaging 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
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
R6377:Fkbp15 UTSW 4 62,242,429 (GRCm39) missense probably damaging 1.00
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'- ACATCCTATGTGTTGCCTACTTCCTGTA -3'
(R):5'- GCTCTGCTAAAACTGCCCTTGACT -3'

Sequencing Primer
(F):5'- gaactgccacccgagcc -3'
(R):5'- AAAACTGCCCTTGACTTTTCCATAC -3'
Posted On 2013-10-16