Incidental Mutation 'IGL00835:Fkbp1b'
ID12623
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fkbp1b
Ensembl Gene ENSMUSG00000020635
Gene NameFK506 binding protein 1b
SynonymsFKBP12.6, calstabin2, 12.6kDa
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.316) question?
Stock #IGL00835
Quality Score
Status
Chromosome12
Chromosomal Location4833174-4841591 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 4833726 bp
ZygosityHeterozygous
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]
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: 71,302,733 D1023G probably damaging Het
Agbl3 A G 6: 34,799,732 D391G probably damaging Het
Aggf1 C A 13: 95,362,477 V450F probably damaging Het
Alms1 A G 6: 85,622,134 Y1314C probably damaging Het
Arfgef3 A G 10: 18,661,358 F192L probably benign Het
Arnt A G 3: 95,490,340 D541G probably damaging Het
AU040320 A G 4: 126,757,071 probably null Het
Cep290 A T 10: 100,563,380 R2255* probably null Het
Creb3l4 T A 3: 90,241,987 H138L possibly damaging Het
Crispld2 G A 8: 120,010,648 R46H probably damaging Het
Crlf3 T C 11: 80,047,675 T379A probably benign Het
Ctsb T A 14: 63,135,650 D85E probably damaging Het
Etv2 A T 7: 30,633,667 D325E probably benign Het
Fggy T A 4: 95,837,628 I335N possibly damaging Het
Glra3 A G 8: 55,940,977 probably benign Het
Gpatch8 C A 11: 102,478,549 A1388S probably damaging Het
Grin2b T A 6: 135,733,570 S993C probably damaging Het
Gsg1 A T 6: 135,244,092 M103K possibly damaging Het
Il12rb2 A T 6: 67,360,567 V110D probably damaging Het
Kat8 A G 7: 127,920,504 D174G probably damaging Het
Krt82 A T 15: 101,543,378 I334N probably damaging Het
Lrrfip1 C T 1: 91,115,418 T515I possibly damaging Het
Lrrtm2 T A 18: 35,214,239 L3F probably benign Het
Man1c1 T A 4: 134,564,532 Q575L probably damaging Het
Panx1 A G 9: 15,007,844 S240P probably damaging Het
Phldb2 G A 16: 45,751,456 T1191I probably damaging Het
Plb1 G A 5: 32,364,172 E1456K unknown Het
Prtn3 A G 10: 79,881,052 T84A probably benign Het
R3hdm1 T C 1: 128,235,632 probably benign Het
Sirpa G A 2: 129,609,183 C121Y probably damaging Het
Slc9a3 C A 13: 74,160,302 H475N probably benign Het
Smgc A T 15: 91,844,420 D121V probably damaging Het
Spata16 A T 3: 26,924,262 E459V probably damaging Het
Sult2a4 T A 7: 13,909,789 E284D probably benign Het
Tbc1d32 A G 10: 56,089,846 probably benign Het
Thsd7a A C 6: 12,554,934 V317G probably damaging Het
Trh T C 6: 92,242,789 E182G probably benign Het
Tsc1 A G 2: 28,672,466 D368G possibly damaging Het
Ttc39d T G 17: 80,216,526 C205G probably damaging Het
Unc79 T G 12: 103,141,890 probably benign Het
Vps13d A T 4: 145,160,652 D724E probably damaging Het
Zc3h14 T A 12: 98,747,524 probably null Het
Zfp507 G T 7: 35,776,038 H917N probably damaging Het
Other mutations in Fkbp1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03375:Fkbp1b APN 12 4838220 splice site probably benign
R0270:Fkbp1b UTSW 12 4838229 splice site probably benign
R5512:Fkbp1b UTSW 12 4838183 missense probably benign 0.09
R5527:Fkbp1b UTSW 12 4833746 missense probably damaging 0.99
Posted On2012-12-06