|Institutional Source||Beutler Lab|
|Gene Name||shugoshin 1|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R6164 (G1)|
|Chromosomal Location||53674786-53689333 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 53676953 bp (GRCm38)|
|Amino Acid Change||Arginine to Cysteine at position 466 (R466C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024736 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000724] [ENSMUST00000024736] [ENSMUST00000166525]|
AA Change: R466C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R466C
|Coding Region Coverage||
|Validation Efficiency||98% (61/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the shugoshin family of proteins. This protein is thought to protect centromeric cohesin from cleavage during mitotic prophase by preventing phosphorylation of a cohesin subunit. Reduced expression of this gene leads to the premature loss of centromeric cohesion, mis-segregation of sister chromatids, and mitotic arrest. Evidence suggests that this protein also protects a small subset of cohesin found along the length of the chromosome arms during mitotic prophase. An isoform lacking exon 6 has been shown to play a role in the cohesion of centrioles (PMID: 16582621 and PMID:18331714). Mutations in this gene have been associated with Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome, characterized by the co-occurrence of Sick Sinus Syndrome (SSS) and Chronic Intestinal Pseudo-obstruction (CIPO) within the first four decades of life (PMID:25282101). Fibroblast cells from CAID patients exhibited both increased cell proliferation and higher rates of senescence. Pseudogenes of this gene have been found on chromosomes 1 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for a gene-trapped allele show prenatal lethality. Heterozygotes display enhanced chromosome instability, as well as increased formation of aberrant crypt foci and accelerated development of colon tumors after exposure to azoxymethane. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sgo1||
(F):5'- TACGAGTTTGAAGTCAGCACAGG -3'
(R):5'- CACTGATTATGAAGTGCCAGATATG -3'
(F):5'- GTTTGAAGTCAGCACAGGATTATGC -3'
(R):5'- AAGTGCCAGATATGTTTTGTGTTTAC -3'