|Institutional Source||Beutler Lab|
|Gene Name||heat shock protein 9|
|Synonyms||C3H-specific antigen, mthsp70, GRP75, PBP74, CSA, Hsc74, mot-2, Hsp74a, Hspa9a, Hsp74, mortalin|
|Is this an essential gene?||Probably essential (E-score: 0.965)|
|Stock #||R0613 (G1)|
|Chromosomal Location||34937414-34954357 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 34947980 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 216 (V216E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025217 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025217]|
|Predicted Effect||probably damaging
AA Change: V216E
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: V216E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.9654|
|Coding Region Coverage||
|Validation Efficiency||100% (72/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the heat shock protein 70 gene family. The encoded protein is primarily localized to the mitochondria but is also found in the endoplasmic reticulum, plasma membrane and cytoplasmic vesicles. This protein is a heat-shock cognate protein. This protein plays a role in cell proliferation, stress response and maintenance of the mitochondria. A pseudogene of this gene is found on chromosome 2.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality while heterozygotes display decreased pre-B cell number. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hspa9||
(F):5'- TCCAGGAGAGTCTGACATCTCTGTG -3'
(R):5'- CAAAGGAGTCTGTTGCCCCTCAAG -3'
(F):5'- caccacatctgaaaacctgac -3'
(R):5'- TGTTGCCCCTCAAGAGGATG -3'