Incidental Mutation 'R8454:Fkbp8'
ID 654934
Institutional Source Beutler Lab
Gene Symbol Fkbp8
Ensembl Gene ENSMUSG00000019428
Gene Name FK506 binding protein 8
Synonyms Fkbp38, 38kDa
MMRRC Submission 067831-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8454 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 70980374-70987978 bp(+) (GRCm39)
Type of Mutation splice site (21 bp from exon)
DNA Base Change (assembly) T to A at 70984413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075491] [ENSMUST00000117580] [ENSMUST00000119353] [ENSMUST00000119425] [ENSMUST00000119698] [ENSMUST00000132867] [ENSMUST00000134893] [ENSMUST00000138260]
AlphaFold O35465
Predicted Effect probably null
Transcript: ENSMUST00000075491
SMART Domains Protein: ENSMUSP00000074935
Gene: ENSMUSG00000019428

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: ENSMUST00000117580
SMART Domains Protein: ENSMUSP00000112561
Gene: ENSMUSG00000055553

DomainStartEndE-ValueType
Pfam:KxDL 12 99 5.1e-41 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000119353
SMART Domains Protein: ENSMUSP00000112527
Gene: ENSMUSG00000019428

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 benign
Transcript: ENSMUST00000119425
SMART Domains Protein: ENSMUSP00000113528
Gene: ENSMUSG00000019428

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000119698
SMART Domains Protein: ENSMUSP00000114069
Gene: ENSMUSG00000019428

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 probably benign
Transcript: ENSMUST00000132867
Predicted Effect probably benign
Transcript: ENSMUST00000134893
Predicted Effect probably benign
Transcript: ENSMUST00000138260
SMART Domains Protein: ENSMUSP00000123438
Gene: ENSMUSG00000055553

DomainStartEndE-ValueType
Pfam:KxDL 12 99 9.2e-40 PFAM
UBQ 105 176 2.14e-36 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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 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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C A 17: 46,635,103 (GRCm39) G300V possibly damaging Het
Adgrg7 C G 16: 56,616,045 (GRCm39) probably benign Het
Agt G A 8: 125,290,842 (GRCm39) T155M probably benign Het
Atp8b3 A G 10: 80,361,633 (GRCm39) V763A probably benign Het
Btn1a1 C A 13: 23,648,420 (GRCm39) V138L probably benign Het
Cd163 A T 6: 124,305,924 (GRCm39) N1109I probably benign Het
Cideb T A 14: 55,992,598 (GRCm39) Q106L possibly damaging Het
Cntn1 A G 15: 92,130,130 (GRCm39) T126A probably benign Het
Dnai3 T C 3: 145,802,982 (GRCm39) K70E probably damaging Het
Elfn1 T C 5: 139,957,226 (GRCm39) Y77H probably damaging Het
Eml3 A G 19: 8,912,358 (GRCm39) H386R probably damaging Het
Fbxo21 A G 5: 118,133,479 (GRCm39) D413G probably damaging Het
Fzd1 T C 5: 4,807,336 (GRCm39) Q82R probably benign Het
Gast T C 11: 100,227,394 (GRCm39) L29P probably benign Het
Glb1l2 C A 9: 26,717,713 (GRCm39) probably benign Het
Gm1110 C G 9: 26,794,576 (GRCm39) Q483H probably benign Het
Gm1110 T A 9: 26,794,577 (GRCm39) Q483L probably benign Het
Gpc6 T C 14: 117,163,391 (GRCm39) L15P probably damaging Het
Hagh C A 17: 25,076,536 (GRCm39) S161* probably null Het
Hrh1 A G 6: 114,457,814 (GRCm39) D365G probably benign Het
Ighv1-36 A T 12: 114,843,560 (GRCm39) M100K probably damaging Het
Itgb8 A T 12: 119,134,513 (GRCm39) V518D probably benign Het
Krt82 T C 15: 101,450,238 (GRCm39) Y486C probably damaging Het
Lmbr1l A G 15: 98,810,357 (GRCm39) S85P probably damaging Het
Met A G 6: 17,491,768 (GRCm39) S177G probably damaging Het
Myl9 T A 2: 156,623,048 (GRCm39) I162N possibly damaging Het
Npat T A 9: 53,478,251 (GRCm39) N973K possibly damaging Het
Or5p68 A T 7: 107,945,889 (GRCm39) C100S probably damaging Het
Pcdhga12 A T 18: 37,901,190 (GRCm39) D674V possibly damaging Het
Phtf1 T A 3: 103,911,765 (GRCm39) N702K probably damaging Het
Plaa A T 4: 94,457,714 (GRCm39) I752N probably damaging Het
Pnpla2 T C 7: 141,038,011 (GRCm39) C194R probably damaging Het
Rnaseh2a T C 8: 85,691,776 (GRCm39) N133S probably benign Het
Rps6ka1 T A 4: 133,575,864 (GRCm39) Q685L probably benign Het
Ryr1 C A 7: 28,715,142 (GRCm39) G4661C unknown Het
Samd13 T A 3: 146,352,157 (GRCm39) M65L probably benign Het
Sdr42e2 T A 7: 120,430,403 (GRCm39) V420E possibly damaging Het
Sec22c A G 9: 121,524,721 (GRCm39) S21P probably damaging Het
Sh3d19 C A 3: 86,014,329 (GRCm39) T431K probably benign Het
Sin3b A G 8: 73,468,108 (GRCm39) M277V probably benign Het
Sis T C 3: 72,854,834 (GRCm39) T468A possibly damaging Het
Slitrk3 T C 3: 72,956,513 (GRCm39) N753S probably benign Het
Slitrk6 C A 14: 110,989,478 (GRCm39) L76F probably damaging Het
Stk3 C T 15: 34,876,870 (GRCm39) A478T probably damaging Het
Styxl2 A T 1: 165,935,702 (GRCm39) N165K probably damaging Het
Sugp1 C A 8: 70,524,247 (GRCm39) Y617* probably null Het
Tinag T C 9: 76,938,977 (GRCm39) D167G probably damaging Het
Tk2 A G 8: 104,967,746 (GRCm39) probably null Het
Tmem209 A T 6: 30,489,308 (GRCm39) V514D probably damaging Het
Tmprss9 A G 10: 80,723,320 (GRCm39) H260R probably benign Het
Tnfrsf14 T A 4: 155,011,112 (GRCm39) Y83F possibly damaging Het
Tnfrsf8 A T 4: 145,014,553 (GRCm39) D285E probably benign Het
Togaram2 C G 17: 72,004,873 (GRCm39) A310G probably benign Het
Trpv3 A G 11: 73,182,448 (GRCm39) Y544C probably damaging Het
Ttl T A 2: 128,908,104 (GRCm39) V13D probably damaging Het
Usp40 A T 1: 87,908,694 (GRCm39) D602E probably benign Het
Vamp5 A G 6: 72,347,376 (GRCm39) probably benign Het
Vmn2r65 T A 7: 84,589,402 (GRCm39) H838L possibly damaging Het
Vps35l T A 7: 118,391,795 (GRCm39) F493Y probably benign Het
Zfp960 T A 17: 17,308,461 (GRCm39) Y392N 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
R3956: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
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'- TGGAAGTCACCCTGAAGACG -3'
(R):5'- GGAATATTCTAGAACGTTCTATGGC -3'

Sequencing Primer
(F):5'- TCACCCTGAAGACGGCAGAG -3'
(R):5'- GAACGTTCTATGGCCCAAATG -3'
Posted On 2020-10-20