Incidental Mutation 'IGL02953:Fkbp14'
ID 364986
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fkbp14
Ensembl Gene ENSMUSG00000038074
Gene Name FK506 binding protein 14
Synonyms FKBP22
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.278) question?
Stock # IGL02953
Quality Score
Status
Chromosome 6
Chromosomal Location 54554589-54574293 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54556667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 161 (K161R)
Ref Sequence ENSEMBL: ENSMUSP00000046070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046520] [ENSMUST00000117375] [ENSMUST00000155047]
AlphaFold P59024
Predicted Effect probably damaging
Transcript: ENSMUST00000046520
AA Change: K161R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046070
Gene: ENSMUSG00000038074
AA Change: K161R

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 benign
Transcript: ENSMUST00000117375
AA Change: K67R

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112526
Gene: ENSMUSG00000038074
AA Change: K67R

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: ENSMUST00000141757
Predicted Effect probably benign
Transcript: ENSMUST00000155047
SMART Domains Protein: ENSMUSP00000114521
Gene: ENSMUSG00000038074

DomainStartEndE-ValueType
Pfam:FKBP_C 38 117 7.3e-25 PFAM
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 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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057N15Rik A G 16: 88,570,534 (GRCm39) S169P possibly damaging Het
Adap2 G A 11: 80,045,126 (GRCm39) G29R probably damaging Het
Adcy2 A T 13: 68,877,447 (GRCm39) I431N probably damaging Het
Amer3 T C 1: 34,626,877 (GRCm39) V372A probably damaging Het
Aspm T A 1: 139,385,157 (GRCm39) V267D probably benign Het
Atp6v0b A T 4: 117,742,419 (GRCm39) V111E probably damaging Het
Cep20 T C 16: 14,122,339 (GRCm39) K142E probably benign Het
Clmp T A 9: 40,685,683 (GRCm39) L193Q probably damaging Het
Dcaf7 T G 11: 105,942,702 (GRCm39) Y216* probably null Het
Dcbld2 T A 16: 58,272,100 (GRCm39) D385E probably benign Het
Des T A 1: 75,340,288 (GRCm39) D398E possibly damaging Het
Fancm C T 12: 65,168,740 (GRCm39) T1701I probably benign Het
Fat1 C A 8: 45,477,351 (GRCm39) D2132E probably damaging Het
Fuca2 C T 10: 13,383,173 (GRCm39) probably benign Het
Habp2 T A 19: 56,302,664 (GRCm39) probably null Het
Hectd4 T A 5: 121,503,116 (GRCm39) Y4362N possibly damaging Het
Herc3 C T 6: 58,834,718 (GRCm39) Q242* probably null Het
Igkv4-81 T C 6: 68,967,981 (GRCm39) K40R probably benign Het
Irf5 C A 6: 29,536,671 (GRCm39) H461N possibly damaging Het
Lypd11 C T 7: 24,422,991 (GRCm39) C109Y probably damaging Het
Nav2 G A 7: 49,198,171 (GRCm39) V1267M probably damaging Het
Nlk A G 11: 78,517,527 (GRCm39) V155A probably benign Het
Nup214 C T 2: 31,878,241 (GRCm39) H303Y possibly damaging Het
Pld1 A C 3: 28,166,396 (GRCm39) M812L probably benign Het
Rab11fip3 C A 17: 26,286,653 (GRCm39) R500L possibly damaging Het
Secisbp2l C T 2: 125,602,194 (GRCm39) E389K probably benign Het
Serpina3a C T 12: 104,082,748 (GRCm39) R174C probably benign Het
Spef2 T C 15: 9,713,329 (GRCm39) R405G possibly damaging Het
Srpx A T X: 9,983,706 (GRCm39) probably benign Het
St18 T A 1: 6,914,337 (GRCm39) probably benign Het
Tcerg1 C T 18: 42,681,535 (GRCm39) P561S probably damaging Het
Topbp1 T A 9: 103,205,634 (GRCm39) N757K probably benign Het
Trrap G T 5: 144,752,774 (GRCm39) L1782F probably damaging Het
Tut1 G T 19: 8,940,056 (GRCm39) V347L probably damaging Het
Txnip T A 3: 96,465,682 (GRCm39) V44D probably damaging Het
Usp8 C T 2: 126,579,857 (GRCm39) T369I probably benign Het
Zzef1 A G 11: 72,746,224 (GRCm39) N842S probably benign Het
Other mutations in Fkbp14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03056:Fkbp14 APN 6 54,556,529 (GRCm39) missense probably benign 0.00
R4178:Fkbp14 UTSW 6 54,566,299 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-12-18