Incidental Mutation 'IGL03056:Fkbp14'
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ID409237
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fkbp14
Ensembl Gene ENSMUSG00000038074
Gene NameFK506 binding protein 14
SynonymsFKBP22
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.339) question?
Stock #IGL03056
Quality Score
Status
Chromosome6
Chromosomal Location54577604-54597308 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 54579544 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 207 (V207A)
Ref Sequence ENSEMBL: ENSMUSP00000046070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046520] [ENSMUST00000117375] [ENSMUST00000155047]
Predicted Effect probably benign
Transcript: ENSMUST00000046520
AA Change: V207A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000046070
Gene: ENSMUSG00000038074
AA Change: V207A

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: V113A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112526
Gene: ENSMUSG00000038074
AA Change: V113A

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,670,903 H1118R probably damaging Het
Aff1 G A 5: 103,811,081 V339I probably damaging Het
Ank1 G T 8: 23,141,179 V107F probably damaging Het
Aox3 T C 1: 58,159,021 probably null Het
Cd160 T C 3: 96,805,811 T46A probably benign Het
Col20a1 A T 2: 180,994,889 Y221F probably damaging Het
Ddx18 C T 1: 121,564,535 A148T probably benign Het
Dennd5b A G 6: 149,055,072 M307T probably damaging Het
Fam166a T A 2: 25,221,355 M232K possibly damaging Het
Fam216b G A 14: 78,082,783 H86Y probably benign Het
Fh1 A T 1: 175,606,162 C374S probably damaging Het
Gucy1a1 T C 3: 82,113,287 K101R probably benign Het
Kcnk2 G T 1: 189,295,711 Q116K possibly damaging Het
Kdm5b C A 1: 134,587,979 Q114K probably damaging Het
Kif12 C T 4: 63,166,956 R516Q probably null Het
Lca5l C T 16: 96,161,351 C463Y probably benign Het
Lgsn T A 1: 31,203,624 Y262* probably null Het
Lig4 A G 8: 9,972,580 I400T possibly damaging Het
Mink1 T A 11: 70,612,583 probably null Het
Mprip T A 11: 59,771,692 I2243N probably damaging Het
Myo1f A T 17: 33,585,600 Y426F probably damaging Het
Naip2 T A 13: 100,162,287 S414C possibly damaging Het
Nrg1 T C 8: 31,821,423 I363V possibly damaging Het
Olfr1278 A T 2: 111,293,172 R301S possibly damaging Het
Olfr582 A T 7: 103,041,751 I86L possibly damaging Het
Serpinb9d T C 13: 33,202,753 V268A probably damaging Het
Slc15a1 A G 14: 121,491,283 F17L possibly damaging Het
Slc9a3 T A 13: 74,150,819 V119E probably damaging Het
Sspo T A 6: 48,470,538 M2346K probably benign Het
Tcf4 G T 18: 69,651,212 probably benign Het
Trabd2b T C 4: 114,409,338 V183A probably damaging Het
Ust T C 10: 8,207,562 H350R probably benign Het
Zfp952 T A 17: 33,002,766 V35E probably damaging Het
Other mutations in Fkbp14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02953:Fkbp14 APN 6 54579682 missense probably damaging 1.00
R4178:Fkbp14 UTSW 6 54589314 missense probably damaging 1.00
R4863:Fkbp14 UTSW 6 54585945 splice site probably benign
R4975:Fkbp14 UTSW 6 54592958 missense probably benign 0.01
R5710:Fkbp14 UTSW 6 54589270 splice site probably null
R5714:Fkbp14 UTSW 6 54585850 missense probably damaging 1.00
R6671:Fkbp14 UTSW 6 54579677 missense probably damaging 1.00
R6792:Fkbp14 UTSW 6 54585852 nonsense probably null
R7606:Fkbp14 UTSW 6 54593018 missense probably benign 0.01
R7748:Fkbp14 UTSW 6 54595520 unclassified probably benign
Posted On2016-08-02