Incidental Mutation 'R5535:Fkbpl'
ID 434798
Institutional Source Beutler Lab
Gene Symbol Fkbpl
Ensembl Gene ENSMUSG00000033739
Gene Name FK506 binding protein-like
Synonyms WAF-1/CIP1 stabilizing protein 39, Ppiase-X, NG7, DIR1, WISp39
MMRRC Submission 043093-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.915) question?
Stock # R5535 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 34863738-34865298 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34864303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 24 (A24T)
Ref Sequence ENSEMBL: ENSMUSP00000037273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015605] [ENSMUST00000036720] [ENSMUST00000173984] [ENSMUST00000174519] [ENSMUST00000174614] [ENSMUST00000174796]
AlphaFold O35450
Predicted Effect probably benign
Transcript: ENSMUST00000015605
SMART Domains Protein: ENSMUSP00000015605
Gene: ENSMUSG00000015461

DomainStartEndE-ValueType
low complexity region 86 110 N/A INTRINSIC
internal_repeat_1 113 156 2.55e-13 PROSPERO
low complexity region 162 180 N/A INTRINSIC
internal_repeat_1 186 230 2.55e-13 PROSPERO
low complexity region 238 255 N/A INTRINSIC
low complexity region 289 301 N/A INTRINSIC
BRLZ 320 384 7.08e-15 SMART
low complexity region 415 428 N/A INTRINSIC
low complexity region 484 497 N/A INTRINSIC
low complexity region 544 557 N/A INTRINSIC
low complexity region 667 693 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000036720
AA Change: A24T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037273
Gene: ENSMUSG00000033739
AA Change: A24T

DomainStartEndE-ValueType
TPR 208 241 2.92e1 SMART
TPR 250 283 4.77e-2 SMART
TPR 284 317 1.89e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173984
SMART Domains Protein: ENSMUSP00000133516
Gene: ENSMUSG00000015461

DomainStartEndE-ValueType
low complexity region 89 113 N/A INTRINSIC
internal_repeat_1 116 159 2.54e-13 PROSPERO
low complexity region 165 183 N/A INTRINSIC
internal_repeat_1 189 233 2.54e-13 PROSPERO
low complexity region 241 258 N/A INTRINSIC
low complexity region 292 304 N/A INTRINSIC
BRLZ 323 387 2.9e-17 SMART
low complexity region 418 431 N/A INTRINSIC
low complexity region 487 500 N/A INTRINSIC
low complexity region 547 560 N/A INTRINSIC
low complexity region 670 696 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174519
SMART Domains Protein: ENSMUSP00000133558
Gene: ENSMUSG00000015461

DomainStartEndE-ValueType
low complexity region 23 47 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174600
Predicted Effect probably benign
Transcript: ENSMUST00000174614
Predicted Effect probably benign
Transcript: ENSMUST00000174796
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has similarity to the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The encoded protein is thought to have a potential role in the induced radioresistance. Also it appears to have some involvement in the control of the cell cycle. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to complete embryonic lethality. Heterozygotes develop normally but exhibit enhanced angiogenesis in various experimental and tumor disease models. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b C T 9: 118,977,474 (GRCm39) G403S probably damaging Het
Agbl2 G A 2: 90,640,350 (GRCm39) V699I probably benign Het
Amer2 AAGGAGGAGGAGGAG AAGGAGGAGGAG 14: 60,616,302 (GRCm39) probably benign Het
Bace2 A T 16: 97,214,625 (GRCm39) Q271L probably damaging Het
Btn2a2 T C 13: 23,662,445 (GRCm39) K493E probably benign Het
Ces3a T A 8: 105,778,196 (GRCm39) D222E probably benign Het
Ckap2l A G 2: 129,127,762 (GRCm39) C139R probably benign Het
Clip4 A G 17: 72,138,257 (GRCm39) H485R probably benign Het
Cntfr T A 4: 41,663,216 (GRCm39) D197V probably benign Het
Efcab5 A G 11: 77,042,747 (GRCm39) L2P probably damaging Het
Elmo2 A G 2: 165,152,132 (GRCm39) V163A possibly damaging Het
Flrt2 A G 12: 95,747,200 (GRCm39) T513A probably benign Het
Gm10801 GT GTTTTT 2: 98,492,844 (GRCm39) probably null Het
Hectd1 A T 12: 51,849,109 (GRCm39) F332I probably damaging Het
Helz A G 11: 107,536,946 (GRCm39) D947G probably damaging Het
Hivep2 T A 10: 14,006,766 (GRCm39) D1121E probably benign Het
Hoxa13 GG GGCG 6: 52,237,520 (GRCm39) probably null Homo
Hoxd13 A T 2: 74,499,141 (GRCm39) Y163F probably damaging Het
Immt C A 6: 71,829,768 (GRCm39) P158Q probably null Het
Kcnh5 A G 12: 75,177,681 (GRCm39) S142P possibly damaging Het
Lnpep T G 17: 17,758,956 (GRCm39) H796P probably benign Het
Mfhas1 C A 8: 36,057,423 (GRCm39) R633S possibly damaging Het
Mmp25 A G 17: 23,863,734 (GRCm39) L32P probably benign Het
Myo15b A G 11: 115,772,127 (GRCm39) D299G probably damaging Het
Myo18b T C 5: 112,937,908 (GRCm39) E1739G probably damaging Het
Or8b44 T A 9: 38,410,294 (GRCm39) S110T probably benign Het
Parp9 A G 16: 35,777,195 (GRCm39) K147E probably damaging Het
Pcdha3 G T 18: 37,080,989 (GRCm39) R577L probably benign Het
Plod2 T A 9: 92,488,622 (GRCm39) I637N probably damaging Het
Polk T G 13: 96,632,005 (GRCm39) S243R probably damaging Het
Prag1 T C 8: 36,571,168 (GRCm39) S584P probably benign Het
Prex1 A T 2: 166,422,193 (GRCm39) V43E possibly damaging Het
Rdh10 T C 1: 16,201,408 (GRCm39) Y294H probably damaging Het
Rnf126 T A 10: 79,598,533 (GRCm39) I28F probably damaging Het
Sdk2 T A 11: 113,833,984 (GRCm39) H66L possibly damaging Het
Tet1 G T 10: 62,668,686 (GRCm39) P1431Q probably damaging Het
Tmco2 T A 4: 120,963,190 (GRCm39) Q103L possibly damaging Het
Ucp3 A T 7: 100,129,873 (GRCm39) R172W probably benign Het
Unc79 A T 12: 103,135,962 (GRCm39) I2270F possibly damaging Het
Other mutations in Fkbpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Fkbpl APN 17 34,864,718 (GRCm39) missense probably damaging 1.00
IGL02129:Fkbpl APN 17 34,864,952 (GRCm39) missense probably damaging 0.99
IGL02322:Fkbpl APN 17 34,864,298 (GRCm39) missense probably benign 0.00
IGL03331:Fkbpl APN 17 34,864,661 (GRCm39) missense probably damaging 1.00
IGL03347:Fkbpl APN 17 34,865,287 (GRCm39) unclassified probably benign
R0278:Fkbpl UTSW 17 34,864,384 (GRCm39) nonsense probably null
R0314:Fkbpl UTSW 17 34,865,026 (GRCm39) missense possibly damaging 0.62
R0540:Fkbpl UTSW 17 34,864,333 (GRCm39) missense probably benign
R0607:Fkbpl UTSW 17 34,864,333 (GRCm39) missense probably benign
R1866:Fkbpl UTSW 17 34,864,797 (GRCm39) missense possibly damaging 0.50
R4483:Fkbpl UTSW 17 34,865,269 (GRCm39) missense probably damaging 1.00
R4746:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R4795:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R4796:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R4839:Fkbpl UTSW 17 34,864,839 (GRCm39) missense probably benign
R5268:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R5290:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R5357:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R5358:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R5359:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R5360:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R5361:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R5363:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R5406:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R5435:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R5533:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R5722:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R5723:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R5760:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R5861:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R5941:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R6109:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R6124:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R6146:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R6148:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R6185:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R6186:Fkbpl UTSW 17 34,865,153 (GRCm39) missense probably benign 0.12
R6186:Fkbpl UTSW 17 34,864,303 (GRCm39) missense probably benign
R6344:Fkbpl UTSW 17 34,864,544 (GRCm39) missense probably damaging 1.00
R6481:Fkbpl UTSW 17 34,864,388 (GRCm39) missense possibly damaging 0.95
R6564:Fkbpl UTSW 17 34,865,240 (GRCm39) missense probably benign 0.42
R9800:Fkbpl UTSW 17 34,864,691 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CGAGGAGTCTTAACTAGGAATTCTG -3'
(R):5'- GTGCTCTGCCATCTCATTGG -3'

Sequencing Primer
(F):5'- AATTCTGGAATTTACATGGTTTCGG -3'
(R):5'- TGGTTGAGACTTGAAATTGATCAGAG -3'
Posted On 2016-10-24