|Institutional Source||Beutler Lab|
|Gene Name||FK506 binding protein 1a|
|Synonyms||Fkbp1, FKBP12, Fkbp|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||RF011 (G1)|
|Chromosomal Location||151542483-151561692 bp(+) (GRCm38)|
|Type of Mutation||start codon destroyed|
|DNA Base Change (assembly)||GCCGCCGCCA to G at 151542699 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000037206 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044011]|
|Predicted Effect||probably null
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: This gene is a member of the immunophilin family. The encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin, and is associated with immunoregulation, protein folding, receptor signaling, protein trafficking and T-cell activation. It may modulate the calcium release activity of the ryanodine receptor Ryr1. It also interacts with the type I TGF-beta receptor. Disruption of this gene in mouse causes severe ventricular defects. Pseudogenes of this gene have been defined on chromosomes 4, 10, 14, and 16. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a null allele display embryonic and neonatal lethality and dilated cardiomyopathy associated with ventricular septal defects, myocardial noncompaction, a thin ventricular wall, hypertrophic trabeculae, and liver hemorrhage and necrosis; about 9% show neural tube closure defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fkbp1a||
(F):5'- CGTTATTACTGCGGCGTCTC -3'
(R):5'- TCTACGGTTGGACAGTAGGC -3'
(F):5'- TTCAGGGATGTGAGCGCCTC -3'
(R):5'- TTGGACAGTAGGCTCCCTG -3'