Incidental Mutation 'IGL00497:Sgo1'
ID 5753
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgo1
Ensembl Gene ENSMUSG00000023940
Gene Name shugoshin 1
Synonyms Sgol1, 3300001M08Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00497
Quality Score
Status
Chromosome 17
Chromosomal Location 53981814-53996361 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 53984130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000024736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000724] [ENSMUST00000024736]
AlphaFold Q9CXH7
Predicted Effect probably benign
Transcript: ENSMUST00000000724
SMART Domains Protein: ENSMUSP00000000724
Gene: ENSMUSG00000000708

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
low complexity region 32 55 N/A INTRINSIC
Pfam:PCAF_N 56 308 6.2e-114 PFAM
low complexity region 461 472 N/A INTRINSIC
Pfam:Acetyltransf_7 522 605 1.5e-11 PFAM
Pfam:Acetyltransf_1 530 604 3.2e-11 PFAM
low complexity region 643 659 N/A INTRINSIC
BROMO 702 810 1.08e-44 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000024736
SMART Domains Protein: ENSMUSP00000024736
Gene: ENSMUSG00000023940

DomainStartEndE-ValueType
Pfam:Shugoshin_N 22 66 6.2e-12 PFAM
low complexity region 273 290 N/A INTRINSIC
Pfam:Shugoshin_C 463 486 2.2e-11 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579G24Rik G A 3: 79,538,598 (GRCm39) probably benign Het
Aatk C T 11: 119,901,012 (GRCm39) R1128Q probably benign Het
Acot6 C T 12: 84,156,212 (GRCm39) R387C probably damaging Het
Adam11 A G 11: 102,660,973 (GRCm39) E118G probably damaging Het
Adcyap1r1 G A 6: 55,449,264 (GRCm39) V73I probably damaging Het
Apol8 T C 15: 77,634,214 (GRCm39) T121A probably damaging Het
Bltp2 A G 11: 78,163,759 (GRCm39) N1076D probably damaging Het
Ccdc91 C A 6: 147,508,485 (GRCm39) Q404K unknown Het
Cpt1b T C 15: 89,306,496 (GRCm39) K294R probably benign Het
Dnah6 A C 6: 73,172,744 (GRCm39) V238G probably damaging Het
Dscaml1 T C 9: 45,663,536 (GRCm39) S1920P probably damaging Het
Gcfc2 A T 6: 81,934,951 (GRCm39) I737L probably benign Het
Gmeb1 A G 4: 131,955,296 (GRCm39) V293A probably benign Het
Gpi-ps T C 8: 5,690,563 (GRCm39) noncoding transcript Het
Hibch A G 1: 52,924,349 (GRCm39) probably benign Het
Ifnab A G 4: 88,609,419 (GRCm39) Y16H probably benign Het
Il17rc T C 6: 113,451,132 (GRCm39) V155A probably damaging Het
Lrr1 A G 12: 69,221,356 (GRCm39) H166R probably benign Het
Map4k5 G T 12: 69,892,506 (GRCm39) A141E probably damaging Het
Mettl17 A T 14: 52,126,292 (GRCm39) K233N probably damaging Het
Mon2 A G 10: 122,862,204 (GRCm39) L740S probably damaging Het
Mpdz A C 4: 81,253,979 (GRCm39) I1051S probably benign Het
Mroh8 A G 2: 157,058,834 (GRCm39) F944S probably damaging Het
Myh13 A G 11: 67,233,314 (GRCm39) Y611C probably damaging Het
Npat A G 9: 53,478,100 (GRCm39) N951D possibly damaging Het
Osmr T C 15: 6,876,547 (GRCm39) S126G probably benign Het
Parp14 T C 16: 35,655,206 (GRCm39) Y1755C probably damaging Het
Phf14 T C 6: 11,941,423 (GRCm39) probably benign Het
Prex2 T A 1: 11,256,876 (GRCm39) M1196K possibly damaging Het
Prkd1 A T 12: 50,430,264 (GRCm39) D614E probably damaging Het
Ptprm A G 17: 67,124,967 (GRCm39) L794P probably damaging Het
Rb1 C T 14: 73,502,038 (GRCm39) R449H probably damaging Het
Scfd1 A G 12: 51,474,652 (GRCm39) D469G probably benign Het
Serpinb1c T C 13: 33,067,958 (GRCm39) K213E probably damaging Het
Slc11a1 A G 1: 74,421,057 (GRCm39) probably null Het
Snw1 A G 12: 87,499,350 (GRCm39) probably null Het
Stac3 T C 10: 127,339,533 (GRCm39) I143T probably damaging Het
Tcta A T 9: 108,183,115 (GRCm39) L10Q probably damaging Het
Tha1 T C 11: 117,761,831 (GRCm39) probably benign Het
Trmt1 T C 8: 85,422,138 (GRCm39) M254T possibly damaging Het
Trps1 T A 15: 50,524,703 (GRCm39) M887L possibly damaging Het
Zfyve28 A G 5: 34,400,539 (GRCm39) V53A probably damaging Het
Other mutations in Sgo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Sgo1 APN 17 53,994,275 (GRCm39) missense probably damaging 1.00
IGL02271:Sgo1 APN 17 53,986,567 (GRCm39) missense possibly damaging 0.62
IGL02457:Sgo1 APN 17 53,983,989 (GRCm39) missense probably damaging 1.00
R0049:Sgo1 UTSW 17 53,986,691 (GRCm39) missense probably damaging 0.97
R0049:Sgo1 UTSW 17 53,986,691 (GRCm39) missense probably damaging 0.97
R1836:Sgo1 UTSW 17 53,994,799 (GRCm39) missense probably damaging 1.00
R2989:Sgo1 UTSW 17 53,994,162 (GRCm39) missense probably benign 0.06
R6164:Sgo1 UTSW 17 53,983,981 (GRCm39) missense probably damaging 1.00
R6613:Sgo1 UTSW 17 53,986,085 (GRCm39) missense probably damaging 1.00
R7322:Sgo1 UTSW 17 53,984,085 (GRCm39) missense probably damaging 1.00
R7560:Sgo1 UTSW 17 53,986,295 (GRCm39) missense probably benign
R7767:Sgo1 UTSW 17 53,986,639 (GRCm39) missense possibly damaging 0.74
R9271:Sgo1 UTSW 17 53,983,931 (GRCm39) unclassified probably benign
Posted On 2012-04-20