|Institutional Source||Beutler Lab|
|Gene Name||stress-induced phosphoprotein 1|
|Synonyms||Hop, IEF SSP 3521, Hsp70/Hsp90 organizing protein, STI1, p60|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7096 (G1)|
|Chromosomal Location||7020696-7040026 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 7021810 bp|
|Amino Acid Change||Glycine to Serine at position 467 (G467S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025918 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025918] [ENSMUST00000040772]|
|Predicted Effect||possibly damaging
AA Change: G467S
PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: G467S
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.5146|
|Coding Region Coverage||
|Validation Efficiency||97% (68/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] STIP1 is an adaptor protein that coordinates the functions of HSP70 (see HSPA1A; MIM 140550) and HSP90 (see HSP90AA1; MIM 140571) in protein folding. It is thought to assist in the transfer of proteins from HSP70 to HSP90 by binding both HSP90 and substrate-bound HSP70. STIP1 also stimulates the ATPase activity of HSP70 and inhibits the ATPase activity of HSP90, suggesting that it regulates both the conformations and ATPase cycles of these chaperones (Song and Masison, 2005 [PubMed 16100115]).[supplied by OMIM, Jul 2009]
PHENOTYPE: Mice homozygous for a targeted allele exhibit embryonic lethality by E10.5, actute inflammation in the placental labyrinth, poorly formed neural tube and limb buds and increase double-strand breaks. Mice heterozygous for this allele exhibit susceptibility to ischemic brain injury. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Stip1||
(F):5'- TGCTCAGGCACATAACCTC -3'
(R):5'- AAGGTAAGCTGCTGTTGGCC -3'
(F):5'- GAATGATAGAATTCCCTCTCACTTC -3'
(R):5'- AAGCTGCTGTTGGCCTATAAC -3'