Incidental Mutation 'IGL03375:Fkbp1b'
ID 420473
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: 0.351) question?
Stock # IGL03375
Quality Score
Status
Chromosome 12
Chromosomal Location 4883174-4891591 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 4888220 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020964] [ENSMUST00000219880]
AlphaFold Q9Z2I2
Predicted Effect probably benign
Transcript: ENSMUST00000020964
SMART Domains Protein: ENSMUSP00000020964
Gene: ENSMUSG00000020635

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap31 A G 16: 38,423,190 (GRCm39) S959P probably damaging Het
Arrb2 G A 11: 70,327,005 (GRCm39) G24D probably damaging Het
Catsper4 A G 4: 133,945,519 (GRCm39) I180T probably damaging Het
Chst15 G A 7: 131,872,186 (GRCm39) Q32* probably null Het
Cntnap5c A T 17: 58,469,200 (GRCm39) Y594F possibly damaging Het
Cse1l T A 2: 166,784,977 (GRCm39) probably benign Het
Dab1 A T 4: 104,538,798 (GRCm39) I201F possibly damaging Het
Eif2ak4 T C 2: 118,252,799 (GRCm39) V457A probably benign Het
Fryl C A 5: 73,245,792 (GRCm39) V1122F possibly damaging Het
Gas2l2 A G 11: 83,317,036 (GRCm39) probably benign Het
Gstt2 A T 10: 75,668,655 (GRCm39) probably null Het
H4c14 T C 3: 96,170,458 (GRCm39) T55A possibly damaging Het
Hcst T G 7: 30,118,036 (GRCm39) probably benign Het
Hectd4 A G 5: 121,466,445 (GRCm39) E2420G possibly damaging Het
Ifi206 A T 1: 173,308,344 (GRCm39) S551T probably benign Het
Itgb3bp A G 4: 99,657,724 (GRCm39) probably benign Het
Krtap6-2 A G 16: 89,216,644 (GRCm39) Y108H unknown Het
Krtap6-5 T G 16: 88,844,740 (GRCm39) probably benign Het
Muc5b A G 7: 141,415,699 (GRCm39) T2882A possibly damaging Het
Nup214 C T 2: 31,900,233 (GRCm39) T854M probably damaging Het
Olfml2b A G 1: 170,477,401 (GRCm39) K179E probably benign Het
Or10d1b A G 9: 39,613,871 (GRCm39) S65P probably damaging Het
Or4k37 A T 2: 111,159,229 (GRCm39) H155L probably damaging Het
Per2 A T 1: 91,351,950 (GRCm39) I852K possibly damaging Het
Pkhd1 A T 1: 20,187,247 (GRCm39) I3687N probably damaging Het
Slc7a2 A T 8: 41,369,410 (GRCm39) S622C probably damaging Het
Smarcc2 G A 10: 128,318,781 (GRCm39) V719I probably damaging Het
Syne2 T C 12: 75,972,209 (GRCm39) I1033T possibly damaging Het
Tmod1 T C 4: 46,096,999 (GRCm39) I264T probably damaging Het
Tmtc3 G A 10: 100,283,581 (GRCm39) A658V possibly damaging Het
Top6bl T C 19: 4,748,206 (GRCm39) E164G probably benign Het
Tpm3 A G 3: 89,981,079 (GRCm39) E56G possibly damaging Het
Tra2b T C 16: 22,065,993 (GRCm39) probably benign Het
Trmu T A 15: 85,779,138 (GRCm39) Y262N possibly damaging Het
Uox C T 3: 146,331,590 (GRCm39) T213I probably damaging Het
Vps13d A G 4: 144,818,517 (GRCm39) W2R probably damaging Het
Other mutations in Fkbp1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Fkbp1b APN 12 4,883,726 (GRCm39) missense probably damaging 0.96
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 2016-08-02