Incidental Mutation 'R3956:Fkbp8'
ID 310700
Institutional Source Beutler Lab
Gene Symbol Fkbp8
Ensembl Gene ENSMUSG00000019428
Gene Name FK506 binding protein 8
Synonyms Fkbp38, 38kDa
MMRRC Submission 040833-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3956 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 70980374-70987978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 70987517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 376 (S376A)
Ref Sequence ENSEMBL: ENSMUSP00000114069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075491] [ENSMUST00000093454] [ENSMUST00000119353] [ENSMUST00000119698] [ENSMUST00000134893] [ENSMUST00000210155]
AlphaFold O35465
Predicted Effect probably damaging
Transcript: ENSMUST00000075491
AA Change: S376A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074935
Gene: ENSMUSG00000019428
AA Change: S376A

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
low complexity region 68 82 N/A INTRINSIC
Pfam:FKBP_C 103 192 1.4e-16 PFAM
Blast:TPR 212 245 2e-12 BLAST
low complexity region 253 259 N/A INTRINSIC
Pfam:TPR_1 263 296 5.4e-7 PFAM
Pfam:TPR_2 263 296 3.8e-5 PFAM
Pfam:TPR_16 267 331 3e-11 PFAM
Pfam:TPR_9 270 344 1.3e-7 PFAM
Pfam:TPR_19 273 340 1.6e-8 PFAM
Pfam:TPR_1 297 330 5.4e-8 PFAM
Pfam:TPR_2 297 330 1.3e-7 PFAM
Pfam:TPR_8 297 330 9e-7 PFAM
Pfam:TPR_14 297 340 2.1e-7 PFAM
transmembrane domain 381 400 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093454
SMART Domains Protein: ENSMUSP00000091163
Gene: ENSMUSG00000070002

DomainStartEndE-ValueType
Pfam:ELL 6 289 2.2e-107 PFAM
low complexity region 403 416 N/A INTRINSIC
low complexity region 427 445 N/A INTRINSIC
low complexity region 447 471 N/A INTRINSIC
Pfam:Occludin_ELL 494 595 6.4e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000119353
AA Change: S375A

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112527
Gene: ENSMUSG00000019428
AA Change: S375A

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
low complexity region 68 82 N/A INTRINSIC
Pfam:FKBP_C 103 191 1.3e-15 PFAM
Pfam:TPR_11 209 293 3.4e-9 PFAM
Pfam:TPR_1 262 295 6.5e-7 PFAM
Pfam:TPR_2 262 295 3.9e-5 PFAM
Pfam:TPR_16 266 330 1.4e-11 PFAM
Pfam:TPR_9 269 343 1.5e-7 PFAM
Pfam:TPR_19 272 339 8.6e-9 PFAM
Pfam:TPR_11 294 358 2.6e-9 PFAM
Pfam:TPR_1 296 329 6.6e-8 PFAM
Pfam:TPR_2 296 329 1.3e-7 PFAM
Pfam:TPR_8 296 330 5.5e-7 PFAM
transmembrane domain 380 399 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119698
AA Change: S376A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114069
Gene: ENSMUSG00000019428
AA Change: S376A

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
low complexity region 68 82 N/A INTRINSIC
Pfam:FKBP_C 103 192 6.4e-16 PFAM
Pfam:TPR_11 210 294 3.4e-9 PFAM
Pfam:TPR_1 263 296 6.5e-7 PFAM
Pfam:TPR_2 263 296 3.9e-5 PFAM
Pfam:TPR_16 267 331 1.4e-11 PFAM
Pfam:TPR_9 270 344 1.5e-7 PFAM
Pfam:TPR_19 273 340 8.6e-9 PFAM
Pfam:TPR_11 295 359 2.6e-9 PFAM
Pfam:TPR_1 297 330 6.6e-8 PFAM
Pfam:TPR_2 297 330 1.3e-7 PFAM
Pfam:TPR_8 297 331 5.6e-7 PFAM
transmembrane domain 381 400 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123052
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125741
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134299
Predicted Effect probably benign
Transcript: ENSMUST00000134893
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144766
Predicted Effect probably benign
Transcript: ENSMUST00000210155
Meta Mutation Damage Score 0.0897 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.5%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. Unlike the other members of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons associated with memory function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality, ventralization of neural cell fates, caudal neural tube dilation, and small eyes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A G 10: 29,100,805 (GRCm39) K393E possibly damaging Het
Aagab A G 9: 63,526,442 (GRCm39) E155G probably damaging Het
Abca16 A G 7: 120,126,975 (GRCm39) N1221S probably damaging Het
Acad11 A G 9: 103,963,351 (GRCm39) probably benign Het
Acsl1 T A 8: 46,987,495 (GRCm39) L693Q probably damaging Het
Adam2 G A 14: 66,295,059 (GRCm39) S262L probably damaging Het
B3gat1 A G 9: 26,668,324 (GRCm39) T305A possibly damaging Het
BC051076 A G 5: 88,112,110 (GRCm39) noncoding transcript Het
Ccni A G 5: 93,331,263 (GRCm39) L236S probably damaging Het
Ccnq C A 11: 78,641,849 (GRCm39) E214* probably null Het
Cdc45 A G 16: 18,624,180 (GRCm39) V119A probably benign Het
Clspn ACGGCGGCGGC A 4: 126,460,230 (GRCm39) probably null Het
Creld1 A G 6: 113,469,190 (GRCm39) D340G possibly damaging Het
Cyrib T C 15: 63,813,823 (GRCm39) Y158C probably damaging Het
Dipk1b C T 2: 26,525,579 (GRCm39) P171L probably benign Het
Dnah2 T A 11: 69,374,847 (GRCm39) I1417L probably benign Het
Efhc1 A C 1: 21,048,890 (GRCm39) K434N probably damaging Het
Evi5l T C 8: 4,241,358 (GRCm39) V297A possibly damaging Het
Gfod1 A T 13: 43,354,538 (GRCm39) C146S probably damaging Het
Greb1 G T 12: 16,732,300 (GRCm39) P1554T probably damaging Het
Grip1 A T 10: 119,765,931 (GRCm39) I88F probably damaging Het
Hbq1a T C 11: 32,250,214 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Kmt2e A G 5: 23,701,023 (GRCm39) T121A probably benign Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Mfsd2b A T 12: 4,916,848 (GRCm39) F194Y probably damaging Het
Mtmr3 A T 11: 4,441,138 (GRCm39) V504E probably damaging Het
Neb C T 2: 52,091,975 (GRCm39) V5030M possibly damaging Het
Nup210l A T 3: 90,100,361 (GRCm39) R1462S possibly damaging Het
Or5ac17 G A 16: 59,036,428 (GRCm39) Q183* probably null Het
Or5al1 A G 2: 85,990,282 (GRCm39) V144A probably benign Het
Or5al5 C T 2: 85,961,363 (GRCm39) V215I probably benign Het
Pmfbp1 A G 8: 110,256,801 (GRCm39) S502G probably benign Het
Prb1c G T 6: 132,338,814 (GRCm39) Q135K unknown Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Qng1 A G 13: 58,532,203 (GRCm39) S118P probably damaging Het
Ralgapa2 C T 2: 146,277,884 (GRCm39) V426I probably damaging Het
Rasgrf2 A G 13: 92,130,974 (GRCm39) S696P probably damaging Het
Riok3 T A 18: 12,276,031 (GRCm39) Y242* probably null Het
Robo2 T G 16: 73,758,755 (GRCm39) Y672S probably damaging Het
Rsbn1 A G 3: 103,835,991 (GRCm39) H343R probably damaging Het
Sar1a A T 10: 61,522,172 (GRCm39) N88I possibly damaging Het
Sgcz A G 8: 37,993,346 (GRCm39) probably benign Het
Spmip9 A G 6: 70,890,469 (GRCm39) Y108H possibly damaging Het
Tbc1d9 C T 8: 83,960,161 (GRCm39) T138I probably damaging Het
Tlcd5 C A 9: 43,022,808 (GRCm39) C182F probably damaging Het
Tmem131l C A 3: 83,817,726 (GRCm39) C1257F probably damaging Het
Top6bl T A 19: 4,742,525 (GRCm39) T214S probably benign Het
Ttn A G 2: 76,799,593 (GRCm39) V429A possibly damaging Het
Umodl1 A G 17: 31,221,837 (GRCm39) T1280A probably benign Het
Xpnpep3 A G 15: 81,335,230 (GRCm39) probably benign Het
Other mutations in Fkbp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Fkbp8 APN 8 70,987,211 (GRCm39) missense probably damaging 1.00
IGL01832:Fkbp8 APN 8 70,984,195 (GRCm39) missense probably benign 0.24
R0738:Fkbp8 UTSW 8 70,982,320 (GRCm39) missense probably damaging 1.00
R1631:Fkbp8 UTSW 8 70,984,282 (GRCm39) missense probably damaging 1.00
R1845:Fkbp8 UTSW 8 70,983,685 (GRCm39) splice site probably null
R3951:Fkbp8 UTSW 8 70,985,311 (GRCm39) missense probably damaging 1.00
R3953:Fkbp8 UTSW 8 70,987,517 (GRCm39) missense probably damaging 0.97
R3957:Fkbp8 UTSW 8 70,987,517 (GRCm39) missense probably damaging 0.97
R4965:Fkbp8 UTSW 8 70,984,173 (GRCm39) critical splice acceptor site probably null
R6655:Fkbp8 UTSW 8 70,985,320 (GRCm39) missense probably damaging 1.00
R7081:Fkbp8 UTSW 8 70,983,644 (GRCm39) missense probably benign 0.05
R8454:Fkbp8 UTSW 8 70,984,413 (GRCm39) splice site probably null
R9612:Fkbp8 UTSW 8 70,984,324 (GRCm39) missense probably damaging 0.99
R9726:Fkbp8 UTSW 8 70,987,529 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGATGGGACTCTGGACCTG -3'
(R):5'- TAGAAGAACAGGGTCCCTCC -3'

Sequencing Primer
(F):5'- ACTCTGGACCTGCAGGACTC -3'
(R):5'- ACCCATAGGAGGCATCTCAG -3'
Posted On 2015-04-29