Incidental Mutation 'IGL00835:Fkbp1b'
ID 12623
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fkbp1b
Ensembl Gene ENSMUSG00000020635
Gene Name FK506 binding protein 1b
Synonyms 12.6kDa, calstabin2, FKBP12.6
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.364) question?
Stock # IGL00835
Quality Score
Status
Chromosome 12
Chromosomal Location 4883174-4891591 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4883726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 90 (G90S)
Ref Sequence ENSEMBL: ENSMUSP00000020964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020964] [ENSMUST00000219880]
AlphaFold Q9Z2I2
Predicted Effect probably damaging
Transcript: ENSMUST00000020964
AA Change: G90S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020964
Gene: ENSMUSG00000020635
AA Change: G90S

DomainStartEndE-ValueType
Pfam:FKBP_C 13 105 1.2e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219880
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 is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is highly similar to the FK506-binding protein 1A. Its physiological role is thought to be in excitation-contraction coupling in cardiac muscle. There are two alternatively spliced transcript variants of this gene encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele display exercise-induced sudden cardiac death. Homozygotes for a second null allele show impaired glucose tolerance and glucose-driven insulin secretion. Homozygotes for a third null allele show Ca2+ dysregulation and male-specific cardiac hypertrophy and hypertension. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,341,892 (GRCm39) D1023G probably damaging Het
Agbl3 A G 6: 34,776,667 (GRCm39) D391G probably damaging Het
Aggf1 C A 13: 95,498,985 (GRCm39) V450F probably damaging Het
Alms1 A G 6: 85,599,116 (GRCm39) Y1314C probably damaging Het
Arfgef3 A G 10: 18,537,106 (GRCm39) F192L probably benign Het
Arnt A G 3: 95,397,651 (GRCm39) D541G probably damaging Het
AU040320 A G 4: 126,650,864 (GRCm39) probably null Het
Cep290 A T 10: 100,399,242 (GRCm39) R2255* probably null Het
Creb3l4 T A 3: 90,149,294 (GRCm39) H138L possibly damaging Het
Crispld2 G A 8: 120,737,387 (GRCm39) R46H probably damaging Het
Crlf3 T C 11: 79,938,501 (GRCm39) T379A probably benign Het
Ctsb T A 14: 63,373,099 (GRCm39) D85E probably damaging Het
Etv2 A T 7: 30,333,092 (GRCm39) D325E probably benign Het
Fggy T A 4: 95,725,865 (GRCm39) I335N possibly damaging Het
Glra3 A G 8: 56,394,012 (GRCm39) probably benign Het
Gpatch8 C A 11: 102,369,375 (GRCm39) A1388S probably damaging Het
Grin2b T A 6: 135,710,568 (GRCm39) S993C probably damaging Het
Gsg1 A T 6: 135,221,090 (GRCm39) M103K possibly damaging Het
Il12rb2 A T 6: 67,337,551 (GRCm39) V110D probably damaging Het
Kat8 A G 7: 127,519,676 (GRCm39) D174G probably damaging Het
Krt82 A T 15: 101,451,813 (GRCm39) I334N probably damaging Het
Lrrfip1 C T 1: 91,043,140 (GRCm39) T515I possibly damaging Het
Lrrtm2 T A 18: 35,347,292 (GRCm39) L3F probably benign Het
Man1c1 T A 4: 134,291,843 (GRCm39) Q575L probably damaging Het
Panx1 A G 9: 14,919,140 (GRCm39) S240P probably damaging Het
Phldb2 G A 16: 45,571,819 (GRCm39) T1191I probably damaging Het
Plb1 G A 5: 32,521,516 (GRCm39) E1456K unknown Het
Prtn3 A G 10: 79,716,886 (GRCm39) T84A probably benign Het
R3hdm1 T C 1: 128,163,369 (GRCm39) probably benign Het
Sirpa G A 2: 129,451,103 (GRCm39) C121Y probably damaging Het
Slc9a3 C A 13: 74,308,421 (GRCm39) H475N probably benign Het
Smgc A T 15: 91,728,623 (GRCm39) D121V probably damaging Het
Spata16 A T 3: 26,978,411 (GRCm39) E459V probably damaging Het
Sult2a4 T A 7: 13,643,714 (GRCm39) E284D probably benign Het
Tbc1d32 A G 10: 55,965,942 (GRCm39) probably benign Het
Thsd7a A C 6: 12,554,933 (GRCm39) V317G probably damaging Het
Trh T C 6: 92,219,770 (GRCm39) E182G probably benign Het
Tsc1 A G 2: 28,562,478 (GRCm39) D368G possibly damaging Het
Ttc39d T G 17: 80,523,955 (GRCm39) C205G probably damaging Het
Unc79 T G 12: 103,108,149 (GRCm39) probably benign Het
Vps13d A T 4: 144,887,222 (GRCm39) D724E probably damaging Het
Zc3h14 T A 12: 98,713,783 (GRCm39) probably null Het
Zfp507 G T 7: 35,475,463 (GRCm39) H917N probably damaging Het
Other mutations in Fkbp1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03375:Fkbp1b APN 12 4,888,220 (GRCm39) splice site probably benign
R0270:Fkbp1b UTSW 12 4,888,229 (GRCm39) splice site probably benign
R5512:Fkbp1b UTSW 12 4,888,183 (GRCm39) missense probably benign 0.09
R5527:Fkbp1b UTSW 12 4,883,746 (GRCm39) missense probably damaging 0.99
R8984:Fkbp1b UTSW 12 4,891,401 (GRCm39) missense probably damaging 0.98
R9406:Fkbp1b UTSW 12 4,883,732 (GRCm39) missense probably benign 0.05
Posted On 2012-12-06