|Institutional Source||Beutler Lab|
|Gene Name||DnaJ heat shock protein family (Hsp40) member C10|
|Synonyms||JPDI, ERdj5, D2Ertd706e, 1200006L06Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.211)|
|Stock #||R8123 (G1)|
|Chromosomal Location||80315466-80354043 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 80349360 bp|
|Amino Acid Change||Valine to Alanine at position 746 (V746A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028392 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028392]|
|Predicted Effect||probably damaging
AA Change: V746A
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: V746A
|Coding Region Coverage||
|Validation Efficiency||100% (48/48)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an endoplasmic reticulum co-chaperone which is part of the endoplasmic reticulum-associated degradation complex involved in recognizing and degrading misfolded proteins. The encoded protein reduces incorrect disulfide bonds in misfolded glycoproteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased endoplasmic reticulum stress in the salivary gland. Female homozygous mutant mice are smaller than controls. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dnajc10||
(F):5'- TTAGACAAATGGCAGCCAGTGG -3'
(R):5'- GGTACACCAGAAAAGAAGATGTCTC -3'
(F):5'- AGTAGAAACAATCTGGTGTGAATAC -3'
(R):5'- TTGGCCTGCTGAAGGAA -3'