Incidental Mutation 'IGL03347:Fkbpl'
ID419544
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fkbpl
Ensembl Gene ENSMUSG00000033739
Gene NameFK506 binding protein-like
SynonymsWAF-1/CIP1 stabilizing protein 39, NG7, DIR1, Ppiase-X, WISp39
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.907) question?
Stock #IGL03347
Quality Score
Status
Chromosome17
Chromosomal Location34644764-34646324 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 34646313 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015605] [ENSMUST00000036720] [ENSMUST00000173984] [ENSMUST00000174519] [ENSMUST00000174614] [ENSMUST00000174796]
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
SMART Domains Protein: ENSMUSP00000037273
Gene: ENSMUSG00000033739

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
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 T A 9: 30,959,238 S670T possibly damaging Het
Adamts9 G T 6: 92,887,432 Y185* probably null Het
Arid3a T A 10: 79,951,279 S512R possibly damaging Het
Atf6b T C 17: 34,653,240 V524A probably damaging Het
B230118H07Rik A G 2: 101,583,519 probably null Het
Camk2d A G 3: 126,796,901 T254A probably damaging Het
Camsap2 G T 1: 136,280,986 Q923K possibly damaging Het
Car10 G A 11: 93,100,296 probably benign Het
Ccdc39 A G 3: 33,837,843 L160P probably damaging Het
Cdh7 A T 1: 110,138,243 D749V possibly damaging Het
Cox6a2 A T 7: 128,205,728 probably benign Het
Cpne1 A T 2: 156,079,176 Y65N probably damaging Het
Dnm1 T C 2: 32,353,187 D8G probably benign Het
Emsy A G 7: 98,610,685 S140P probably damaging Het
Fam13b G A 18: 34,462,051 probably benign Het
Fbn2 T C 18: 58,013,665 R2720G probably damaging Het
Gm4737 A G 16: 46,154,489 V175A probably benign Het
Gpr179 A G 11: 97,351,838 L60P probably damaging Het
Igsf10 A T 3: 59,331,900 S287T possibly damaging Het
Kat2b G A 17: 53,624,351 probably null Het
Kazald1 A G 19: 45,078,416 D218G possibly damaging Het
Mbtd1 A G 11: 93,923,179 E216G probably benign Het
Mtmr9 C A 14: 63,543,567 V25L probably benign Het
Myo16 A G 8: 10,376,120 probably null Het
Nfkbil1 A T 17: 35,220,583 V318E probably damaging Het
Olfr1009 T C 2: 85,721,807 V134A probably benign Het
Olfr697 A T 7: 106,740,970 probably benign Het
Pidd1 A G 7: 141,439,168 V800A probably damaging Het
Ptprs G A 17: 56,435,972 S390L probably benign Het
Ralgapb G A 2: 158,465,960 V729I possibly damaging Het
Sfrp5 T A 19: 42,198,768 M288L probably benign Het
Slc26a1 C A 5: 108,673,810 G71V probably damaging Het
Srcin1 A T 11: 97,525,344 S1021T probably damaging Het
Supt6 A T 11: 78,232,185 M124K possibly damaging Het
Thada A G 17: 84,398,205 F1157S probably damaging Het
Tmcc2 A G 1: 132,357,652 S424P probably damaging Het
Trim37 G A 11: 87,201,621 R752Q possibly damaging Het
Unc80 A T 1: 66,695,466 Q238L probably damaging Het
Vmn2r23 C A 6: 123,704,374 H80Q probably benign Het
Wnt9a A T 11: 59,330,914 T213S probably damaging Het
Zfp953 T A 13: 67,343,426 Q154L probably benign Het
Other mutations in Fkbpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Fkbpl APN 17 34645744 missense probably damaging 1.00
IGL02129:Fkbpl APN 17 34645978 missense probably damaging 0.99
IGL02322:Fkbpl APN 17 34645324 missense probably benign 0.00
IGL03331:Fkbpl APN 17 34645687 missense probably damaging 1.00
R0278:Fkbpl UTSW 17 34645410 nonsense probably null
R0314:Fkbpl UTSW 17 34646052 missense possibly damaging 0.62
R0540:Fkbpl UTSW 17 34645359 missense probably benign
R0607:Fkbpl UTSW 17 34645359 missense probably benign
R1866:Fkbpl UTSW 17 34645823 missense possibly damaging 0.50
R4483:Fkbpl UTSW 17 34646295 missense probably damaging 1.00
R4746:Fkbpl UTSW 17 34645329 missense probably benign
R4795:Fkbpl UTSW 17 34645329 missense probably benign
R4796:Fkbpl UTSW 17 34645329 missense probably benign
R4839:Fkbpl UTSW 17 34645865 missense probably benign
R5268:Fkbpl UTSW 17 34645329 missense probably benign
R5290:Fkbpl UTSW 17 34645329 missense probably benign
R5357:Fkbpl UTSW 17 34645329 missense probably benign
R5358:Fkbpl UTSW 17 34645329 missense probably benign
R5359:Fkbpl UTSW 17 34645329 missense probably benign
R5360:Fkbpl UTSW 17 34645329 missense probably benign
R5361:Fkbpl UTSW 17 34645329 missense probably benign
R5363:Fkbpl UTSW 17 34645329 missense probably benign
R5406:Fkbpl UTSW 17 34645329 missense probably benign
R5435:Fkbpl UTSW 17 34645329 missense probably benign
R5533:Fkbpl UTSW 17 34645329 missense probably benign
R5535:Fkbpl UTSW 17 34645329 missense probably benign
R5722:Fkbpl UTSW 17 34645329 missense probably benign
R5723:Fkbpl UTSW 17 34645329 missense probably benign
R5760:Fkbpl UTSW 17 34645329 missense probably benign
R5861:Fkbpl UTSW 17 34645329 missense probably benign
R5941:Fkbpl UTSW 17 34645329 missense probably benign
R6109:Fkbpl UTSW 17 34645329 missense probably benign
R6124:Fkbpl UTSW 17 34645329 missense probably benign
R6146:Fkbpl UTSW 17 34645329 missense probably benign
R6148:Fkbpl UTSW 17 34645329 missense probably benign
R6185:Fkbpl UTSW 17 34645329 missense probably benign
R6186:Fkbpl UTSW 17 34645329 missense probably benign
R6186:Fkbpl UTSW 17 34646179 missense probably benign 0.12
R6344:Fkbpl UTSW 17 34645570 missense probably damaging 1.00
R6481:Fkbpl UTSW 17 34645414 missense possibly damaging 0.95
R6564:Fkbpl UTSW 17 34646266 missense probably benign 0.42
Posted On2016-08-02