Incidental Mutation 'R5533:Fkbpl'
ID 433782
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 043091-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.915) question?
Stock # R5533 (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: 98.4%
  • 3x: 97.1%
  • 10x: 94.5%
  • 20x: 88.2%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap2 A G 10: 126,918,911 (GRCm39) E429G probably damaging Het
Akap12 T A 10: 4,307,405 (GRCm39) V1405D probably damaging Het
Akap7 C T 10: 25,159,880 (GRCm39) D107N possibly damaging Het
Arfgef1 A G 1: 10,269,952 (GRCm39) probably null Het
Cacna1s T A 1: 136,026,113 (GRCm39) probably null Het
Ctsd T C 7: 141,931,070 (GRCm39) Q274R probably benign Het
Dysf G A 6: 84,163,453 (GRCm39) R1575Q probably damaging Het
Erich6b A T 14: 75,896,274 (GRCm39) L53F possibly damaging Het
Exoc6 A C 19: 37,582,218 (GRCm39) probably null Het
Fbxw19 A T 9: 109,315,133 (GRCm39) V143E probably benign Het
Fndc1 A G 17: 7,991,608 (GRCm39) F696S unknown Het
Foxa3 G T 7: 18,748,940 (GRCm39) Y102* probably null Het
Foxn1 A G 11: 78,256,792 (GRCm39) M301T probably damaging Het
Foxp2 C T 6: 15,197,119 (GRCm39) Q54* probably null Het
Glra1 T C 11: 55,423,208 (GRCm39) E117G possibly damaging Het
Glt1d1 A T 5: 127,768,095 (GRCm39) D234V probably damaging Het
Golm2 AGATGGTGATGGTG AGATGGTG 2: 121,756,178 (GRCm39) probably benign Het
Gulp1 T C 1: 44,812,441 (GRCm39) I137T probably damaging Het
Itga8 A G 2: 12,165,161 (GRCm39) V816A possibly damaging Het
Kdm4c G A 4: 74,233,886 (GRCm39) probably benign Het
Krtap19-2 A G 16: 88,670,996 (GRCm39) probably benign Het
Lcorl T C 5: 45,891,219 (GRCm39) N378S possibly damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Mocos T C 18: 24,807,357 (GRCm39) L363P probably damaging Het
Mycbp2 G T 14: 103,520,081 (GRCm39) Y745* probably null Het
Nav3 A C 10: 109,719,539 (GRCm39) N141K possibly damaging Het
Ncor1 T C 11: 62,233,837 (GRCm39) N779S probably benign Het
Nebl G T 2: 17,398,079 (GRCm39) Y414* probably null Het
Nf1 T G 11: 79,336,615 (GRCm39) C1065G probably damaging Het
Nfib A G 4: 82,278,004 (GRCm39) V216A probably damaging Het
Nub1 A T 5: 24,907,379 (GRCm39) N354I possibly damaging Het
Nyap1 C T 5: 137,733,726 (GRCm39) V436I probably benign Het
Or5m11b A G 2: 85,805,797 (GRCm39) D70G possibly damaging Het
Or5p73 T C 7: 108,065,469 (GRCm39) F313L probably benign Het
Pde2a T A 7: 101,155,187 (GRCm39) M570K probably damaging Het
Pfas T C 11: 68,882,296 (GRCm39) S856G probably benign Het
Pkd1l2 T C 8: 117,794,855 (GRCm39) E368G probably benign Het
Ptf1a G A 2: 19,451,969 (GRCm39) V323M probably damaging Het
Ptprh T C 7: 4,552,504 (GRCm39) Y920C probably damaging Het
Sergef T A 7: 46,264,200 (GRCm39) D229V possibly damaging Het
Slc1a4 T C 11: 20,254,417 (GRCm39) K483R probably benign Het
Slc26a6 G A 9: 108,735,155 (GRCm39) R351H probably damaging Het
Slc6a19 G A 13: 73,833,948 (GRCm39) T370I possibly damaging Het
Smpd5 T C 15: 76,178,757 (GRCm39) S42P possibly damaging Het
Snx13 G A 12: 35,173,025 (GRCm39) probably null Het
Sox10 G A 15: 79,040,502 (GRCm39) S185L probably benign Het
Spata31e5 T A 1: 28,817,163 (GRCm39) I290F probably damaging Het
Srpk1 T C 17: 28,821,733 (GRCm39) Y227C probably damaging Het
Stambpl1 T A 19: 34,211,316 (GRCm39) probably null Het
Stk36 A G 1: 74,665,750 (GRCm39) R698G possibly damaging Het
Tas2r122 T A 6: 132,688,393 (GRCm39) T167S probably damaging Het
Tlr12 A G 4: 128,509,656 (GRCm39) S865P probably damaging Het
Trp53bp1 A G 2: 121,038,227 (GRCm39) L1537P probably damaging Het
Vstm2a C A 11: 16,213,125 (GRCm39) T170K possibly damaging Het
Xpo7 A T 14: 70,931,407 (GRCm39) F304I probably damaging Het
Zfp286 T C 11: 62,671,796 (GRCm39) probably benign Het
Zfp985 A T 4: 147,667,440 (GRCm39) K103* probably null 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
R5535: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'- GCACTACGAGGAGTCTTAACTAGG -3'
(R):5'- GAGGTGCTCTGCCATCTCATTG -3'

Sequencing Primer
(F):5'- CGAGGAGTCTTAACTAGGAATTCTG -3'
(R):5'- TGGTTGAGACTTGAAATTGATCAGAG -3'
Posted On 2016-10-06