Incidental Mutation 'R4235:Fkbp15'
ID 321054
Institutional Source Beutler Lab
Gene Symbol Fkbp15
Ensembl Gene ENSMUSG00000066151
Gene Name FK506 binding protein 15
Synonyms C430014M02Rik, FKBP133
MMRRC Submission 041052-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4235 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 62218579-62278785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62254693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 269 (I269K)
Ref Sequence ENSEMBL: ENSMUSP00000095641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084527] [ENSMUST00000084528] [ENSMUST00000098033] [ENSMUST00000107461]
AlphaFold Q6P9Q6
Predicted Effect probably benign
Transcript: ENSMUST00000084527
AA Change: I269K

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000081575
Gene: ENSMUSG00000066151
AA Change: I269K

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 benign
Transcript: ENSMUST00000084528
AA Change: I269K

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000081576
Gene: ENSMUSG00000066151
AA Change: I269K

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 benign
Transcript: ENSMUST00000098033
AA Change: I269K

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000095641
Gene: ENSMUSG00000066151
AA Change: I269K

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 benign
Transcript: ENSMUST00000107461
AA Change: I269K

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000103085
Gene: ENSMUSG00000066151
AA Change: I269K

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 0.1403 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (68/70)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
5730596B20Rik G T 6: 52,155,941 (GRCm39) probably benign Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Arhgef18 T C 8: 3,500,317 (GRCm39) I541T possibly damaging Het
Atp7b A G 8: 22,501,039 (GRCm39) Y955H possibly damaging Het
Bnc2 A G 4: 84,211,751 (GRCm39) V231A probably damaging Het
Bod1l A G 5: 41,978,798 (GRCm39) S839P probably damaging Het
Casp8 T A 1: 58,872,857 (GRCm39) H264Q possibly damaging Het
Cc2d1b A T 4: 108,482,549 (GRCm39) probably benign Het
Cpne6 A T 14: 55,751,057 (GRCm39) probably benign Het
Ddx1 C T 12: 13,273,858 (GRCm39) V590I possibly damaging Het
Dgkd T A 1: 87,859,704 (GRCm39) L774* probably null Het
Fbxl2 T A 9: 113,818,231 (GRCm39) N205I probably benign Het
Fcgbpl1 T A 7: 27,856,073 (GRCm39) D1953E probably damaging Het
Gm26678 T C 3: 54,540,504 (GRCm39) noncoding transcript Het
Has1 G T 17: 18,070,298 (GRCm39) R208S possibly damaging Het
Hecw1 C G 13: 14,491,724 (GRCm39) A423P probably benign Het
Hspa12b T C 2: 130,980,932 (GRCm39) V162A probably benign Het
Ifi208 T G 1: 173,510,477 (GRCm39) S211A probably benign Het
Ighv6-3 T C 12: 114,355,494 (GRCm39) E65G probably damaging Het
Igkv9-120 A T 6: 68,027,317 (GRCm39) D77V probably benign Het
Impg1 A G 9: 80,252,611 (GRCm39) L523P probably damaging Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kdm2a A G 19: 4,372,549 (GRCm39) I932T probably damaging Het
Krt17 T C 11: 100,148,694 (GRCm39) T279A possibly damaging Het
Lamp1 T C 8: 13,217,192 (GRCm39) V67A possibly damaging Het
Limk1 T C 5: 134,699,332 (GRCm39) I142V probably benign Het
Mamdc2 T C 19: 23,351,381 (GRCm39) N182D possibly damaging Het
Mcpt1 G A 14: 56,256,017 (GRCm39) probably null Het
Med12l T G 3: 59,164,644 (GRCm39) probably null Het
Mfsd10 G T 5: 34,792,969 (GRCm39) T44N probably damaging Het
Mrps27 T C 13: 99,541,549 (GRCm39) S218P probably damaging Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Neil2 A C 14: 63,429,290 (GRCm39) M1R probably null Het
Nelfcd T C 2: 174,268,841 (GRCm39) F587L probably damaging Het
Nfil3 T C 13: 53,122,835 (GRCm39) D23G probably benign Het
Nit2 T C 16: 56,977,523 (GRCm39) K169R probably benign Het
Nxt1 T C 2: 148,517,267 (GRCm39) S3P probably benign Het
Ogt A G X: 100,711,131 (GRCm39) N434D probably damaging Het
Or56a3 T A 7: 104,734,994 (GRCm39) S24T possibly damaging Het
Pcdhga5 A G 18: 37,829,001 (GRCm39) D483G possibly damaging Het
Pramel25 G C 4: 143,521,344 (GRCm39) C320S probably damaging Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rsl1 T C 13: 67,325,226 (GRCm39) probably null Het
Sobp G A 10: 42,898,896 (GRCm39) H230Y probably damaging Het
Sptan1 A G 2: 29,916,600 (GRCm39) E2096G probably damaging Het
Tie1 G T 4: 118,335,602 (GRCm39) S797* probably null Het
Tmem266 T C 9: 55,325,391 (GRCm39) I186T probably damaging Het
Tmem38b T C 4: 53,840,710 (GRCm39) C66R probably damaging Het
Tnfaip6 T C 2: 51,940,876 (GRCm39) F139S probably damaging Het
Tnrc6a T C 7: 122,770,903 (GRCm39) S898P probably benign Het
Trim24 A G 6: 37,941,675 (GRCm39) D911G probably damaging Het
Tyw5 T C 1: 57,427,647 (GRCm39) probably benign Het
Ubr3 C T 2: 69,846,729 (GRCm39) Q1651* probably null Het
Unc13c T A 9: 73,438,234 (GRCm39) I1943F possibly damaging Het
Usp47 T A 7: 111,709,255 (GRCm39) S1334T probably damaging Het
Vmn1r215 T A 13: 23,260,101 (GRCm39) V47E probably benign Het
Vmn1r224 T A 17: 20,639,624 (GRCm39) M67K possibly damaging Het
Wdfy3 T A 5: 102,070,500 (GRCm39) probably null Het
Zfc3h1 T C 10: 115,254,704 (GRCm39) Y1433H probably benign 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
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'- GCTTAACTCCAATGCCATTTTCAG -3'
(R):5'- GCTGTTTGACTCAAATTCTTTGGAG -3'

Sequencing Primer
(F):5'- GTGTGGTCAATACAAATCTGCACC -3'
(R):5'- TCTTTGGAGAATTCTTTGTTCACG -3'
Posted On 2015-06-12