Incidental Mutation 'IGL02322:Fkbpl'
ID288284
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 #IGL02322
Quality Score
Status
Chromosome17
Chromosomal Location34644764-34646324 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 34645324 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 22 (E22G)
Ref Sequence ENSEMBL: ENSMUSP00000037273 (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
AA Change: E22G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000037273
Gene: ENSMUSG00000033739
AA Change: E22G

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acd G A 8: 105,698,636 A355V probably benign Het
Adam9 A G 8: 24,955,974 V801A probably damaging Het
Ankrd36 T A 11: 5,614,619 V479D possibly damaging Het
Arid5a C T 1: 36,319,416 P423L probably benign Het
Atp13a4 T C 16: 29,440,102 I650V probably benign Het
B4gat1 C A 19: 5,039,127 P51T possibly damaging Het
Caskin2 G A 11: 115,804,477 T310M probably damaging Het
Ccdc121 A G 1: 181,510,434 S318P possibly damaging Het
Ccdc159 G T 9: 21,929,373 V79L possibly damaging Het
Ccser2 A T 14: 36,909,129 V18E probably damaging Het
Cct8l1 T C 5: 25,517,583 V432A probably benign Het
Cdh11 A T 8: 102,647,519 F529Y probably benign Het
Cep250 A G 2: 155,990,328 E1370G probably damaging Het
Col22a1 C A 15: 71,822,653 G717C unknown Het
Csmd2 T C 4: 128,463,727 probably benign Het
Ctrb1 A C 8: 111,689,319 probably null Het
Cyp2b19 T C 7: 26,762,378 S208P possibly damaging Het
Dnmt3l T A 10: 78,052,738 I158N possibly damaging Het
Evi5l T C 8: 4,187,236 probably benign Het
Flnb T A 14: 7,894,676 F825I probably damaging Het
Gjb6 A T 14: 57,124,275 N176K probably damaging Het
Gpc2 G T 5: 138,276,237 probably null Het
H1fnt T C 15: 98,256,876 T131A possibly damaging Het
Il20 C T 1: 130,909,576 C104Y probably damaging Het
Mgat5 A G 1: 127,382,985 N212S probably benign Het
Olfm5 C T 7: 104,154,401 G210D probably damaging Het
Olfr1226 T A 2: 89,193,462 T191S probably damaging Het
Olfr1387 A G 11: 49,459,957 S93G probably benign Het
Olig2 T C 16: 91,226,658 S87P probably benign Het
Osbpl7 G T 11: 97,056,124 A418S probably benign Het
Otog G T 7: 46,301,457 R2551L probably benign Het
Oxt A T 2: 130,576,280 N24I probably damaging Het
Pibf1 A G 14: 99,210,983 Y626C probably damaging Het
Plekhh2 A T 17: 84,589,466 K934* probably null Het
Pramef17 G A 4: 143,992,021 probably benign Het
Prdm9 A T 17: 15,562,848 N57K probably damaging Het
Rapsn A G 2: 91,041,906 D195G possibly damaging Het
Rimbp3 T G 16: 17,211,615 F968V probably benign Het
Rpgrip1 A G 14: 52,150,042 N1047S possibly damaging Het
Slc35g1 C T 19: 38,400,565 R107* probably null Het
Ssh2 A C 11: 77,416,413 probably null Het
Tiparp C A 3: 65,532,020 C70* probably null Het
Vmn2r110 A G 17: 20,573,935 I824T probably damaging Het
Vmn2r78 T C 7: 86,921,479 S402P probably damaging Het
Vps13c A G 9: 67,937,901 E2089G probably benign Het
Xirp2 A T 2: 67,508,738 H441L probably benign Het
Zdhhc3 C T 9: 123,100,477 G31D probably benign Het
Zfp330 A G 8: 82,770,821 L64S probably damaging 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
IGL03331:Fkbpl APN 17 34645687 missense probably damaging 1.00
IGL03347:Fkbpl APN 17 34646313 unclassified probably benign
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 On2015-04-16