Incidental Mutation 'R4178:Fkbp14'
ID 319590
Institutional Source Beutler Lab
Gene Symbol Fkbp14
Ensembl Gene ENSMUSG00000038074
Gene Name FK506 binding protein 14
Synonyms FKBP22
MMRRC Submission 040864-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.278) question?
Stock # R4178 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 54554589-54574293 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54566299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 103 (L103P)
Ref Sequence ENSEMBL: ENSMUSP00000114521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046520] [ENSMUST00000117375] [ENSMUST00000155047]
AlphaFold P59024
Predicted Effect probably damaging
Transcript: ENSMUST00000046520
AA Change: L103P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046070
Gene: ENSMUSG00000038074
AA Change: L103P

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:FKBP_C 38 132 2e-28 PFAM
Pfam:EF-hand_7 116 207 3.7e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117375
AA Change: L9P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112526
Gene: ENSMUSG00000038074
AA Change: L9P

DomainStartEndE-ValueType
Pfam:FKBP_C 1 38 1.1e-13 PFAM
EFh 45 73 4.08e1 SMART
EFh 89 117 2.56e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123832
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133446
AA Change: S244P
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141757
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143312
Predicted Effect probably damaging
Transcript: ENSMUST00000155047
AA Change: L103P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114521
Gene: ENSMUSG00000038074
AA Change: L103P

DomainStartEndE-ValueType
Pfam:FKBP_C 38 117 7.3e-25 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
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 FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Antxrl A G 14: 33,776,928 (GRCm39) probably null Het
Atp2b2 A T 6: 113,770,679 (GRCm39) V410E probably damaging Het
C6 G A 15: 4,764,621 (GRCm39) V106I probably benign Het
Cdhr1 A C 14: 36,804,896 (GRCm39) probably null Het
Cfap44 T A 16: 44,272,216 (GRCm39) L1323Q possibly damaging Het
Ehd4 T A 2: 119,984,829 (GRCm39) Y43F probably damaging Het
Eno1 T C 4: 150,328,490 (GRCm39) I90T possibly damaging Het
Epb41l1 A G 2: 156,363,477 (GRCm39) Y662C probably benign Het
Gm10322 C A 10: 59,452,052 (GRCm39) N56K probably benign Het
Iqcd C A 5: 120,740,476 (GRCm39) T269K probably damaging Het
Kat6b T A 14: 21,668,972 (GRCm39) C249* probably null Het
Kcnab2 T C 4: 152,489,058 (GRCm39) R109G probably null Het
Obox7 A G 7: 14,398,032 (GRCm39) Q24R probably damaging Het
Obox7 C A 7: 14,398,031 (GRCm39) Q24K probably damaging Het
Or5p1 A G 7: 107,916,565 (GRCm39) N155D probably damaging Het
Or5p68 G A 7: 107,945,765 (GRCm39) T141I probably benign Het
Or8g18 A C 9: 39,149,375 (GRCm39) L115* probably null Het
Rasgrf2 C T 13: 92,038,717 (GRCm39) G1043D probably damaging Het
Slf1 A G 13: 77,191,688 (GRCm39) S1049P probably damaging Het
Smc1b A T 15: 85,004,848 (GRCm39) F409I possibly damaging Het
Tab2 A G 10: 7,795,123 (GRCm39) V453A probably damaging Het
Ubr4 A G 4: 139,120,725 (GRCm39) Y338C probably damaging Het
Usp6nl A G 2: 6,445,787 (GRCm39) E588G probably benign Het
Vcan T C 13: 89,873,666 (GRCm39) R63G probably damaging Het
Zfp775 A G 6: 48,590,187 (GRCm39) probably null Het
Zfpm2 T C 15: 40,966,940 (GRCm39) C1010R probably damaging Het
Other mutations in Fkbp14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02953:Fkbp14 APN 6 54,556,667 (GRCm39) missense probably damaging 1.00
IGL03056:Fkbp14 APN 6 54,556,529 (GRCm39) missense probably benign 0.00
R4863:Fkbp14 UTSW 6 54,562,930 (GRCm39) splice site probably benign
R4975:Fkbp14 UTSW 6 54,569,943 (GRCm39) missense probably benign 0.01
R5710:Fkbp14 UTSW 6 54,566,255 (GRCm39) splice site probably null
R5714:Fkbp14 UTSW 6 54,562,835 (GRCm39) missense probably damaging 1.00
R6671:Fkbp14 UTSW 6 54,556,662 (GRCm39) missense probably damaging 1.00
R6792:Fkbp14 UTSW 6 54,562,837 (GRCm39) nonsense probably null
R7606:Fkbp14 UTSW 6 54,570,003 (GRCm39) missense probably benign 0.01
R7748:Fkbp14 UTSW 6 54,572,505 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TTGTAGGGTCACTCAGCAGG -3'
(R):5'- CATGAAGCACAGCAAGAATCTTTG -3'

Sequencing Primer
(F):5'- TCACTCAGCAGGGAGGGTC -3'
(R):5'- TTACCTAGCATGCACAGGGCTC -3'
Posted On 2015-06-10