|Institutional Source||Beutler Lab|
|Essential gene?||Probably essential (E-score: 0.938)|
|Stock #||R1428 (G1)|
|Chromosomal Location||50293961-50325673 bp(-) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||A to G at 50308394 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000137440 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020637] [ENSMUST00000179865]|
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||98% (56/57)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly synthesized N-linked glycoproteins, facilitating protein folding and assembly. It may also play a central role in the quality control of protein folding by retaining incorrectly folded protein subunits within the ER for degradation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit motor defects, loss of large myelinated nerve fibers, small size, and very high mortality between birth and 4 weeks of age. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Canx||
(F):5'- GGTTCACCAGCAGCAGCATTTC -3'
(R):5'- TTGTACTGATGTCTCGGGCCAAGC -3'
(F):5'- ttttctctctttaaatgatggggac -3'
(R):5'- GTTCAGTAAGTTCAGTGCCATC -3'