|Institutional Source||Beutler Lab|
|Gene Name||DnaJ heat shock protein family (Hsp40) member C3|
|Synonyms||Dnajc3, Dnajc3a, Dnajc3b, mp58, p58IPK, Prkri|
|Is this an essential gene?||Possibly essential (E-score: 0.517)|
|Stock #||R4963 (G1)|
|Chromosomal Location||118937976-118981697 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 118978173 bp|
|Amino Acid Change||Histidine to Asparagine at position 502 (H502N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022734 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022734]|
|Predicted Effect||probably benign
AA Change: H502N
PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
AA Change: H502N
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0609|
|Coding Region Coverage||
|Validation Efficiency||97% (74/76)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with multiple tetratricopeptide repeat (TPR) motifs as well as the highly conserved J domain found in DNAJ chaperone family members. It is a member of the tetratricopeptide repeat family of proteins and acts as an inhibitor of the interferon-induced, dsRNA-activated protein kinase (PKR). [provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygous null mice are smaller in size, have a lower percentage of body fat and develop a gradual onset of glucosuria and hyperglycemia associated with increasing apoptosis of pancreatic islet cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dnajc3||
(F):5'- TTGAGTATTAAAGCCTCGTACCC -3'
(R):5'- GGCCCATCAACCTTAAGTCTAC -3'
(F):5'- GAGTATTAAAGCCTCGTACCCATATC -3'
(R):5'- CCTTAAGTCTACAATAAGCTCAGC -3'