|Institutional Source||Beutler Lab|
|Gene Name||DnaJ heat shock protein family (Hsp40) member B9|
|Synonyms||mDj7, Mdg1, microvascular endothelial differentiation gene, ERdj4|
|Is this an essential gene?||Possibly non essential (E-score: 0.305)|
|Stock #||R0355 (G1)|
|Chromosomal Location||44205559-44210326 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 44207204 bp (GRCm38)|
|Amino Acid Change||Histidine to Leucine at position 140 (H140L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000015049 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000015049] [ENSMUST00000220421]|
AA Change: H140L
PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: H140L
|Meta Mutation Damage Score||0.1143|
|Coding Region Coverage||
|Validation Efficiency||100% (76/76)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. This gene is a member of the type 2 subgroup of DnaJ proteins. The encoded protein is localized to the endoplasmic reticulum. This protein is induced by endoplasmic reticulum stress and plays a role in protecting stressed cells from apoptosis. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a hypomorphic allele show perinatal death, reduced birth size and liver glycogen levels, and hypoglycemia. Surviving adults show elevated ER stress in MEFs, lung, kidney, salivary gland and in pancreas, associated with beta cell loss, hypoinsulinemia, and glucose intolerance. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dnajb9||
(F):5'- CTCTTCGTTGAGTGACAGTCCTGC -3'
(R):5'- CTCTCGGATGCCAATAGTCGGAAAG -3'
(F):5'- CAGTGCTTGCTAGATCCATGAAATC -3'
(R):5'- CCAATAGTCGGAAAGAGTATGACAC -3'