|Institutional Source||Beutler Lab|
|Gene Name||DnaJ heat shock protein family (Hsp40) member A2|
|Synonyms||2010206B19Rik, mDj3, HIRIP4, 1500017M13Rik, PRO3015, DNJ3|
|Is this an essential gene?||Possibly essential (E-score: 0.687)|
|Stock #||R1350 (G1)|
|Chromosomal Location||85537633-85555344 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 85540088 bp|
|Amino Acid Change||Phenylalanine to Isoleucine at position 337 (F337I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034138 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034138]|
|Predicted Effect||probably damaging
AA Change: F337I
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: F337I
|Meta Mutation Damage Score||0.2596|
|Coding Region Coverage||
|Validation Efficiency||95% (57/60)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain. The product of this gene works as a cochaperone of Hsp70s in protein folding and mitochondrial protein import in vitro. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dnaja2||
(F):5'- TGCTCTCCAGAGAGTTCAAAGACTTCC -3'
(R):5'- CTCGTCAGATTGTGGTGAAATACCCC -3'
(F):5'- tcccagcaatcaaaaaacagatag -3'
(R):5'- TGGTGAAATACCCCCCTGG -3'