|Institutional Source||Beutler Lab|
|Gene Name||prefoldin 1|
|Is this an essential gene?||Probably essential (E-score: 0.918)|
|Stock #||R8360 (G1)|
|Chromosomal Location||36403679-36454495 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 36451161 bp|
|Amino Acid Change||Threonine to Methionine at position 40 (T40M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025204 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025204]|
|Predicted Effect||probably benign
AA Change: T40M
PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
AA Change: T40M
|Coding Region Coverage||
|Validation Efficiency||96% (43/45)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele display reduced birth size, slow weight gain, loss of neuron tracts in the brain, uncoordinated movement, impaired B and T cell development and function, mucus clearance defects, hydrocephaly, and premature deathpreceded by physical wasting. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pfdn1||
(F):5'- ACACCTGGGGTTTTATGCC -3'
(R):5'- GCTTTGTCAAGTTAGCATGATCTG -3'
(F):5'- GTGCGCTGATTTACTCAC -3'
(R):5'- GTCAAGTTAGCATGATCTGTTTTAAC -3'