|Institutional Source||Beutler Lab|
|Gene Name||heat shock protein 1 (chaperonin)|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0051 (G1)|
|Chromosomal Location||55077835-55088243 bp(-) (GRCm38)|
|Type of Mutation||unclassified|
|DNA Base Change (assembly)||A to G at 55082046 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000122947 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027123] [ENSMUST00000127861] [ENSMUST00000144077]|
|Coding Region Coverage||
|Validation Efficiency||100% (64/64)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a gene-trap allele exhibit embryonic lethality between E7.5 and E9.75 associated with growth retardation. Males heterozygous for a gene-trap allele produce fewer female offspring than expected. Heterozygotes develop a slowly progressive motor defect resembling spastic paraplegia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hspd1||
(F):5'- GCATCTTGGAATTCACACTTTTGACCTG -3'
(R):5'- TGAACCCCTTAATGCCTATGCCATCT -3'
(F):5'- CTTTTGACCTGTAAATACAGAGAGC -3'
(R):5'- ggaacccagaagaaacagcag -3'