Incidental Mutation 'R6613:Sgo1'
ID 523812
Institutional Source Beutler Lab
Gene Symbol Sgo1
Ensembl Gene ENSMUSG00000023940
Gene Name shugoshin 1
Synonyms Sgol1, 3300001M08Rik
MMRRC Submission 044736-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6613 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 53981814-53996361 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53986085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 369 (S369P)
Ref Sequence ENSEMBL: ENSMUSP00000024736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024736]
AlphaFold Q9CXH7
Predicted Effect probably damaging
Transcript: ENSMUST00000024736
AA Change: S369P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024736
Gene: ENSMUSG00000023940
AA Change: S369P

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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 97% (37/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano2 G A 6: 125,783,619 (GRCm39) probably null Het
Arfgef1 A T 1: 10,264,621 (GRCm39) I475N possibly damaging Het
Atg16l2 C T 7: 100,939,788 (GRCm39) probably null Het
Atp2c2 T G 8: 120,482,760 (GRCm39) L874R probably damaging Het
C2cd3 T A 7: 100,044,448 (GRCm39) S343R possibly damaging Het
C4b A T 17: 34,952,539 (GRCm39) S1167T probably damaging Het
Cacna1i G A 15: 80,205,460 (GRCm39) G139S probably damaging Het
Chil6 A T 3: 106,297,191 (GRCm39) F317I probably benign Het
Cngb1 A T 8: 95,992,638 (GRCm39) V199E possibly damaging Het
Dcn A T 10: 97,330,902 (GRCm39) T79S probably benign Het
Dcxr A G 11: 120,617,832 (GRCm39) V48A probably benign Het
Dnajc13 A T 9: 104,091,076 (GRCm39) D668E probably benign Het
Dnajc28 C A 16: 91,413,246 (GRCm39) E357* probably null Het
Dock7 A G 4: 98,866,197 (GRCm39) Y1198H probably damaging Het
Flot1 A G 17: 36,136,703 (GRCm39) D167G probably damaging Het
Gpn1 T C 5: 31,654,696 (GRCm39) probably null Het
Hyou1 A T 9: 44,293,795 (GRCm39) I242F probably damaging Het
Igfbpl1 T C 4: 45,813,447 (GRCm39) N256S probably benign Het
Kif20b C T 19: 34,914,384 (GRCm39) Q390* probably null Het
Lhfpl2 T A 13: 94,311,003 (GRCm39) F91Y probably damaging Het
Magi1 G A 6: 93,722,654 (GRCm39) T408I probably damaging Het
Mttp T C 3: 137,814,839 (GRCm39) N479D probably damaging Het
Myom3 T C 4: 135,539,770 (GRCm39) V1339A possibly damaging Het
Nin T C 12: 70,077,728 (GRCm39) K1733E probably damaging Het
Or5k1 C A 16: 58,617,894 (GRCm39) C105F probably damaging Het
Pdzrn4 T C 15: 92,575,455 (GRCm39) I287T probably damaging Het
Ptprt A G 2: 161,372,367 (GRCm39) V1435A probably damaging Het
Rpap3 T C 15: 97,579,722 (GRCm39) probably null Het
Scin A G 12: 40,129,714 (GRCm39) Y360H probably benign Het
Sfxn5 A G 6: 85,246,890 (GRCm39) probably null Het
Skil T A 3: 31,152,029 (GRCm39) C184S probably null Het
Srcin1 A G 11: 97,424,653 (GRCm39) M607T possibly damaging Het
Ssc5d C T 7: 4,936,292 (GRCm39) P513S possibly damaging Het
Trip10 A G 17: 57,562,197 (GRCm39) probably null Het
Vmn2r114 T A 17: 23,529,220 (GRCm39) Q294L possibly damaging Het
Zc3h12c A G 9: 52,027,412 (GRCm39) V650A possibly damaging Het
Other mutations in Sgo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Sgo1 APN 17 53,984,130 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TACATCCGCATCAGGGCAAC -3'
(R):5'- GATGCAAATCAAAATCCTCATTGAG -3'

Sequencing Primer
(F):5'- GCAACCATTTAGCAGAAACATTGG -3'
(R):5'- AACAAAGATAAGCAGGGTTTACC -3'
Posted On 2018-06-22