Incidental Mutation 'RF046:Fkbp1a'
ID 605016
Institutional Source Beutler Lab
Gene Symbol Fkbp1a
Ensembl Gene ENSMUSG00000032966
Gene Name FK506 binding protein 1a
Synonyms FKBP12, Fkbp1, Fkbp
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # RF046 (G1)
Quality Score 217.468
Status Not validated
Chromosome 2
Chromosomal Location 151384403-151403611 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) CGCCGCCGCCA to C at 151384618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000037206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044011]
AlphaFold P26883
Predicted Effect probably null
Transcript: ENSMUST00000044011
SMART Domains Protein: ENSMUSP00000037206
Gene: ENSMUSG00000032966

DomainStartEndE-ValueType
Pfam:FKBP_C 13 105 1.3e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142271
SMART Domains Protein: ENSMUSP00000118725
Gene: ENSMUSG00000032966

DomainStartEndE-ValueType
Pfam:FKBP_C 77 158 1.2e-30 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype 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
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik TTTT TTTTT 11: 30,376,249 (GRCm39) probably null Het
Ankhd1 CGGCGG CGGCGGGGGCGG 18: 36,693,979 (GRCm39) probably benign Het
Apc A AATAAAGCGC 18: 34,415,062 (GRCm39) probably benign Het
Arid1b GGC GGCCGC 17: 5,045,865 (GRCm39) probably benign Het
Chd4 G GTTCCCT 6: 125,099,094 (GRCm39) probably benign Het
Dclre1a CTTTGCT C 19: 56,532,564 (GRCm39) probably benign Het
Dnaaf9 CATC CATCATC 2: 130,612,654 (GRCm39) probably null Het
Eps8 TCGCTC TCGCTCGCTC 6: 137,494,061 (GRCm39) probably benign Het
Flywch1 CTCCTGGTGT CTCCTGGTGTGGGGAGGCTACGTACTCACCCAATCCTGGTGT 17: 23,981,143 (GRCm39) probably null Het
Flywch1 GGTGT GGTGTGGGGAGGCTACGTACTCACCCACTCCTTGTGT 17: 23,981,148 (GRCm39) probably null Het
Gm7247 AGACCAGACC A 14: 51,601,781 (GRCm39) probably benign Het
H2-T10 TTTCCCACTGTA T 17: 36,431,186 (GRCm39) probably null Het
Iqcf4 TTCCTTTTCCTTTT TTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTGTCCTTTTCCTTTT 9: 106,447,809 (GRCm39) probably benign Het
Kdm2a TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCTCTTCCTCCTCCTC 19: 4,374,535 (GRCm39) probably benign Het
Lce1m GCT GCTCCCACCCCTTCT 3: 92,925,600 (GRCm39) probably benign Het
Lcmt1 GGC GGCCGCGGGGCGC 7: 122,969,057 (GRCm39) probably null Het
Nusap1 GAGGAGCAAGCTGAGA GAGGAGCAAGCTGAGATACACGTTAGCAGTTAGGAGCAAGCTGAGA 2: 119,458,076 (GRCm39) probably null Het
Pkhd1l1 TTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTT 15: 44,421,891 (GRCm39) probably benign Het
Plxnc1 C T 10: 94,700,869 (GRCm39) C605Y probably damaging Het
Pnma8a TA TAACTCATGATGCTCCTGCTTCAACA 7: 16,695,348 (GRCm39) probably benign Het
Polr1has CACCACCACCACCAC CACCACCACCACCACCACCACAACCACCACCACCAC 17: 37,275,949 (GRCm39) probably benign Het
Rfx4 CTCTCTCTCTCTCT CTCTCTCTCTCTCTCTATCTCTCTCTCTCT 10: 84,694,345 (GRCm39) probably benign Het
Rtbdn C CAGCGGG 8: 85,682,808 (GRCm39) probably benign Het
Spmap2l CGATCCTCCCCAGTCCCGCAAGGCCAG CGATCCTCCCCAGTCCCGCAAGGCCAGGGATCCTCCCCAGTCCCGCAAGGCCAG 5: 77,164,250 (GRCm39) probably benign Het
Trp53bp1 TCCTGTGAGGCCCTCTGCTGC TC 2: 121,046,482 (GRCm39) probably null Het
Tusc1 CCGCCA CCGCCAACGCCA 4: 93,223,539 (GRCm39) probably benign Het
Usp2 TGACCTGTTCTTCACTTAC TGACCTGTTCTTCACTTACTCATGCGACCTGTTCTTCACTTAC 9: 44,000,408 (GRCm39) probably benign Het
Other mutations in Fkbp1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7033:Fkbp1a UTSW 2 151,399,420 (GRCm39) critical splice donor site probably null
R8191:Fkbp1a UTSW 2 151,399,356 (GRCm39) missense
RF011:Fkbp1a UTSW 2 151,384,619 (GRCm39) start codon destroyed probably null
RF060:Fkbp1a UTSW 2 151,384,619 (GRCm39) start codon destroyed probably null
Predicted Primers PCR Primer
(F):5'- CGTTATTACTGCGGCGTCTC -3'
(R):5'- TTTCTACGGTTGGACAGTAGGC -3'

Sequencing Primer
(F):5'- TTCAGGGATGTGAGCGCCTC -3'
(R):5'- TTGGACAGTAGGCTCCCTG -3'
Posted On 2019-12-04