|Institutional Source||Beutler Lab|
|Gene Name||DnaJ heat shock protein family (Hsp40) member C13|
|Synonyms||LOC382100, D030002L11Rik, Rme8|
|Is this an essential gene?||Probably essential (E-score: 0.930)|
|Stock #||R7048 (G1)|
|Chromosomal Location||104151282-104262930 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (1 bp from exon)|
|DNA Base Change (assembly)||C to T at 104203414 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000139804 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035170] [ENSMUST00000186788]|
|Coding Region Coverage||
|Validation Efficiency||97% (66/68)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Dnaj protein family whose members act as co-chaperones of a partner heat-shock protein by binding to the latter and stimulating ATP hydrolysis. The encoded protein associates with the heat-shock protein Hsc70 and plays a role in clathrin-mediated endocytosis. It may also be involved in post-endocytic transport mechanisms via its associations with other proteins, including the sorting nexin SNX1. Mutations in this gene are associated with Parkinson's disease. [provided by RefSeq, Jun 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dnajc13||
(F):5'- TGCCGTAAACGATAGCAAGG -3'
(R):5'- GGTCTAGACAAGATGGCAAATTCC -3'
(F):5'- GGGCTTGTAAACACAAACACTTCATG -3'
(R):5'- ATATGAGTGCCTGGCAGA -3'