Incidental Mutation 'R2989:Sgo1'
ID 257876
Institutional Source Beutler Lab
Gene Symbol Sgo1
Ensembl Gene ENSMUSG00000023940
Gene Name shugoshin 1
Synonyms Sgol1, 3300001M08Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2989 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 53981814-53996361 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53994162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 97 (Y97H)
Ref Sequence ENSEMBL: ENSMUSP00000024736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024736]
AlphaFold Q9CXH7
Predicted Effect probably benign
Transcript: ENSMUST00000024736
AA Change: Y97H

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000024736
Gene: ENSMUSG00000023940
AA Change: Y97H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146019
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.4%
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G A 13: 81,729,866 (GRCm39) T205I probably damaging Het
Arhgap32 T A 9: 32,150,694 (GRCm39) N31K possibly damaging Het
C1galt1 A G 6: 7,866,622 (GRCm39) D156G possibly damaging Het
Chrna3 C T 9: 54,923,334 (GRCm39) C158Y probably damaging Het
Cnot1 T C 8: 96,470,906 (GRCm39) E1314G possibly damaging Het
Coil C A 11: 88,878,805 (GRCm39) A520D probably damaging Het
Cpe G T 8: 65,050,549 (GRCm39) N386K probably benign Het
Fat4 T C 3: 39,061,302 (GRCm39) I4295T probably benign Het
Foxn1 C G 11: 78,249,603 (GRCm39) G641R possibly damaging Het
G530012D18Rik GAGAGAGACAGAGAGACAGAGA GAGAGAGACAGAGA 1: 85,504,937 (GRCm39) probably null Het
Intu A G 3: 40,647,140 (GRCm39) K671R probably benign Het
Jup T C 11: 100,267,667 (GRCm39) D552G possibly damaging Het
Kcnk9 T C 15: 72,384,207 (GRCm39) T324A unknown Het
Mettl5 G T 2: 69,711,659 (GRCm39) A69E probably damaging Het
Or8b3b A T 9: 38,583,831 (GRCm39) M303K probably benign Het
Rpf2 A G 10: 40,115,749 (GRCm39) S77P probably benign Het
Srsf12 T C 4: 33,223,599 (GRCm39) Y33H probably damaging Het
Tcerg1 T A 18: 42,652,540 (GRCm39) M56K unknown Het
Trafd1 T C 5: 121,517,529 (GRCm39) T63A probably damaging Het
Ttc28 G A 5: 111,371,881 (GRCm39) V777I probably benign Het
Ubr4 A G 4: 139,190,869 (GRCm39) E937G possibly damaging Het
Zfp677 T C 17: 21,617,114 (GRCm39) I57T probably benign Het
Zfp981 T A 4: 146,622,347 (GRCm39) I424N probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TGTTATCCTCTGAACTACACACAGAC -3'
(R):5'- CTTCTAGGTTGAGGCTTACTAACTG -3'

Sequencing Primer
(F):5'- GACACACACACAGAGTAAATGG -3'
(R):5'- ACACTGCTACACTACTGAG -3'
Posted On 2015-01-11