Incidental Mutation 'RF011:Fkbp1a'
ID 603185
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 # RF011 (G1)
Quality Score 214.458
Status Not validated
Chromosome 2
Chromosomal Location 151384403-151403611 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) GCCGCCGCCA to G at 151384619 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: 99.5%
  • 20x: 99.0%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005L19Rik GTGGTGGCTG GTGGTGGCTGTGGTGGCTG 1: 82,891,290 (GRCm39) probably benign Het
A030005L19Rik TGCTG TGCTGTGGCGGCTG 1: 82,891,307 (GRCm39) probably benign Het
A030005L19Rik TGGCTGCTG TGGCTGCTGGGGCTGCTG 1: 82,891,294 (GRCm39) probably benign Het
AI837181 GCG GCGTCG 19: 5,475,264 (GRCm39) probably benign Het
Ankrd24 C CGGAGGCAGAGGA 10: 81,479,405 (GRCm39) probably benign Het
Aqp2 T C 15: 99,481,753 (GRCm39) S216P probably damaging Het
Brd10 T C 19: 29,721,009 (GRCm39) K672R possibly damaging Het
Cacna1f GGA GGAAGA X: 7,486,295 (GRCm39) probably benign Het
Ccdc170 CCA CCAGCA 10: 4,511,018 (GRCm39) probably benign Het
Cd109 TATTTAT TATTTATTTATTCATTTAT 9: 78,619,810 (GRCm39) probably benign Het
Cela2a T C 4: 141,549,026 (GRCm39) N117D probably benign Het
Cul9 CTTC CTTCTTC 17: 46,811,774 (GRCm39) probably benign Het
Cyb5r2 A T 7: 107,350,375 (GRCm39) S235R probably benign Het
Dnmt1 CACAGTTCCTACCTCGTT CACAGTTCCTACCTCGTTTTGGGGGCGGAGAACAGTTCCTACCTCGTT 9: 20,821,424 (GRCm39) probably null Het
Dnmt1 TT TTTTGGGGGCGGAGCACAGTTCCTACCTCGAT 9: 20,821,440 (GRCm39) probably null Het
E4f1 CCG CCGTCG 17: 24,674,160 (GRCm39) probably benign Het
Fam171b TCCAGCA TCCAGCACCAGCA 2: 83,643,217 (GRCm39) probably benign Het
Fam171b GC GCAGCATC 2: 83,643,239 (GRCm39) probably benign Het
Fam81b CTGTT CTGTTGTT 13: 76,419,435 (GRCm39) probably benign Het
Flii G A 11: 60,607,069 (GRCm39) A969V probably benign Het
Fscb AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGTAGGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG 12: 64,519,768 (GRCm39) probably benign Het
Gas1 G GAAA 13: 60,324,345 (GRCm39) probably benign Het
Grip1 A G 10: 119,767,220 (GRCm39) D115G probably null Het
Guca2b G T 4: 119,514,044 (GRCm39) T89N possibly damaging Het
Hcn4 T A 9: 58,767,198 (GRCm39) S920T unknown Het
Heatr1 A G 13: 12,422,425 (GRCm39) M484V probably benign Het
Iba57 G T 11: 59,054,438 (GRCm39) A27E probably benign Het
Ifi207 G C 1: 173,556,687 (GRCm39) L684V not run Het
Ints13 T C 6: 146,457,738 (GRCm39) H380R probably damaging Het
Jmjd1c C T 10: 67,055,978 (GRCm39) T466I possibly damaging Het
Kcnh8 G A 17: 53,285,267 (GRCm39) R1079H probably benign Het
Kif12 C CCTCCACCCGGCGGGG 4: 63,089,664 (GRCm39) probably benign Het
Kmt2c A T 5: 25,543,457 (GRCm39) D1399E probably damaging Het
Macf1 A T 4: 123,367,648 (GRCm39) L2371Q probably damaging Het
Mbd1 GTCTTCGTCTGCATCTGCATCTGCATCT GTCT 18: 74,406,681 (GRCm39) probably benign Het
Med12l GCA GCATCA 3: 59,183,401 (GRCm39) probably benign Het
Mgam C A 6: 40,734,370 (GRCm39) Q1472K probably damaging Het
Mup21 TATACTT TATACTTTTTAGATACTT 4: 62,067,582 (GRCm39) probably benign Het
Nalf2 CGCCGC CGCCGCAGCCGC X: 98,864,967 (GRCm39) probably benign Het
Nipal1 A G 5: 72,824,156 (GRCm39) N167D probably damaging Het
Or4d10c C T 19: 12,065,611 (GRCm39) V182I probably benign Het
Or5be3 T A 2: 86,864,385 (GRCm39) Y60F probably damaging Het
Osbpl3 CCTGCA C 6: 50,325,118 (GRCm39) probably benign Het
Phf20 CCCCCCCCC CCCCCCCCCCCCCCCC 2: 156,146,540 (GRCm39) probably benign Het
Phf20 CCCCCCCC CCCCCCCCCCCCCCC 2: 156,146,541 (GRCm39) probably benign Het
Pramel16 C G 4: 143,675,478 (GRCm39) Q449H probably damaging Het
Rassf6 TCCTGTAGAGCAATGGGGATTC TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC 5: 90,756,780 (GRCm39) probably benign Het
Rbm33 CCAGCCGCAGC CCAGC 5: 28,599,179 (GRCm39) probably benign Het
Rubcnl T C 14: 75,281,878 (GRCm39) F445S probably damaging Het
S100a10 TTTTTTTA T 3: 93,471,541 (GRCm39) probably benign Het
Sbp AA AAAATGCTGACAACGGA 17: 24,164,328 (GRCm39) probably benign Het
Sec14l3 A C 11: 4,017,963 (GRCm39) Q81P possibly damaging Het
Setd1a TGGTGGTGG TGGTGGTGGGGGTGGTGG 7: 127,384,515 (GRCm39) probably benign Het
Six3 CGG CGGGGG 17: 85,928,796 (GRCm39) probably benign Het
Snapc5 ATGGAAGAAGAGG A 9: 64,089,493 (GRCm39) probably benign Het
Tbc1d12 CGGAGGAGG CGG 19: 38,825,401 (GRCm39) probably benign Het
Tcof1 AGC AGCCGC 18: 60,968,811 (GRCm39) probably benign Het
Tox2 A G 2: 163,067,484 (GRCm39) I68V probably benign Het
Triml2 G T 8: 43,636,201 (GRCm39) probably benign Het
Tspan33 A G 6: 29,716,729 (GRCm39) Y162C probably damaging Het
Zfp384 GGCCCAGGCCCA GGCCCAGGCCCAAGCCCAGGCCCA 6: 125,013,439 (GRCm39) probably benign Het
Zfp948 T C 17: 21,808,574 (GRCm39) Y589H probably damaging Het
Zic1 T C 9: 91,246,383 (GRCm39) I230V 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
RF046:Fkbp1a UTSW 2 151,384,618 (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'- TCTACGGTTGGACAGTAGGC -3'

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