Incidental Mutation 'R0049:Sgo1'
ID 15845
Institutional Source Beutler Lab
Gene Symbol Sgo1
Ensembl Gene ENSMUSG00000023940
Gene Name shugoshin 1
Synonyms Sgol1, 3300001M08Rik
MMRRC Submission 038343-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0049 (G1)
Quality Score
Status Validated
Chromosome 17
Chromosomal Location 53981814-53996361 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 53986691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 167 (D167N)
Ref Sequence ENSEMBL: ENSMUSP00000024736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024736]
AlphaFold Q9CXH7
Predicted Effect probably damaging
Transcript: ENSMUST00000024736
AA Change: D167N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024736
Gene: ENSMUSG00000023940
AA Change: D167N

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
Meta Mutation Damage Score 0.1210 question?
Coding Region Coverage
  • 1x: 90.0%
  • 3x: 87.7%
  • 10x: 82.4%
  • 20x: 74.6%
Validation Efficiency 89% (108/122)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,615,267 (GRCm39) H9L possibly damaging Het
Aars1 T A 8: 111,779,083 (GRCm39) I739K possibly damaging Het
Acod1 T A 14: 103,292,643 (GRCm39) I389K possibly damaging Het
Akap1 C A 11: 88,730,450 (GRCm39) probably null Het
Anxa7 T C 14: 20,512,678 (GRCm39) D285G probably damaging Het
Arhgap1 T C 2: 91,500,514 (GRCm39) Y308H probably damaging Het
Arhgef11 T A 3: 87,636,500 (GRCm39) probably null Het
Atosb A T 4: 43,036,441 (GRCm39) S97T probably benign Het
Atp6v0a4 G A 6: 38,059,016 (GRCm39) R256C probably damaging Het
Camsap3 C A 8: 3,648,772 (GRCm39) S163R probably benign Het
Ccdc110 A T 8: 46,395,663 (GRCm39) E518V probably damaging Het
Ccdc180 G A 4: 45,930,119 (GRCm39) probably null Het
Ccnt1 T C 15: 98,462,960 (GRCm39) M71V probably benign Het
Celsr2 T A 3: 108,304,570 (GRCm39) Y2263F probably benign Het
Cfap69 T C 5: 5,663,734 (GRCm39) T498A probably benign Het
Clstn3 T A 6: 124,436,812 (GRCm39) I132F possibly damaging Het
Cnot4 A G 6: 35,028,212 (GRCm39) V468A probably benign Het
Crmp1 T G 5: 37,422,617 (GRCm39) D141E possibly damaging Het
Cryz C A 3: 154,317,189 (GRCm39) A136D probably damaging Het
Dcst2 T C 3: 89,278,913 (GRCm39) V550A probably benign Het
Dph6 A G 2: 114,353,525 (GRCm39) V221A probably benign Het
Ecm2 A T 13: 49,677,922 (GRCm39) K403* probably null Het
Eif3d T C 15: 77,843,924 (GRCm39) N474S probably benign Het
F12 T C 13: 55,574,130 (GRCm39) D34G probably benign Het
Fam228b A T 12: 4,798,117 (GRCm39) F200Y probably damaging Het
Fgl2 T A 5: 21,580,661 (GRCm39) D334E possibly damaging Het
Fras1 T A 5: 96,924,481 (GRCm39) F3641I probably benign Het
Gabrb2 T G 11: 42,484,674 (GRCm39) Y244D probably damaging Het
Gcc1 A T 6: 28,421,268 (GRCm39) D16E probably benign Het
Gm10648 T C 7: 28,561,202 (GRCm39) probably benign Het
Gorasp2 T C 2: 70,521,067 (GRCm39) S346P possibly damaging Het
Htt A C 5: 35,066,006 (GRCm39) K3060N probably damaging Het
Ibsp C T 5: 104,450,024 (GRCm39) L8F probably damaging Het
Kif27 A T 13: 58,451,378 (GRCm39) D983E probably damaging Het
Kif3a T A 11: 53,481,560 (GRCm39) probably benign Het
Kif3c A C 12: 3,417,090 (GRCm39) K370N possibly damaging Het
Loxhd1 T C 18: 77,468,256 (GRCm39) probably benign Het
Maz A T 7: 126,623,758 (GRCm39) D74E probably damaging Het
Med21 T C 6: 146,551,732 (GRCm39) S128P probably damaging Het
Mms19 A C 19: 41,943,607 (GRCm39) M374R probably damaging Het
Mrpl3 T C 9: 104,932,872 (GRCm39) V111A probably benign Het
Mtfr2 T A 10: 20,224,158 (GRCm39) Y31N probably damaging Het
Neb A C 2: 52,060,479 (GRCm39) M2286R possibly damaging Het
Ngf A T 3: 102,427,661 (GRCm39) R137* probably null Het
Nr1i3 T A 1: 171,041,982 (GRCm39) V22E probably damaging Het
Nxpe5 T C 5: 138,249,566 (GRCm39) V452A probably damaging Het
Or11g27 A T 14: 50,771,151 (GRCm39) K94M probably damaging Het
Pax3 A G 1: 78,080,141 (GRCm39) L415P probably damaging Het
Pcnt G T 10: 76,205,655 (GRCm39) probably benign Het
Peg3 G T 7: 6,714,672 (GRCm39) D183E possibly damaging Het
Pglyrp1 G T 7: 18,623,313 (GRCm39) G120V probably damaging Het
Pomt1 T A 2: 32,142,023 (GRCm39) H584Q possibly damaging Het
Prkcq G A 2: 11,288,643 (GRCm39) G532E probably benign Het
Pwp1 A G 10: 85,721,480 (GRCm39) T361A possibly damaging Het
Rab4a A T 8: 124,554,081 (GRCm39) H5L probably damaging Het
Ramp1 T C 1: 91,124,592 (GRCm39) I51T possibly damaging Het
Raph1 G T 1: 60,565,058 (GRCm39) T143K probably benign Het
Rhpn1 A G 15: 75,581,088 (GRCm39) E110G possibly damaging Het
Rnf168 A T 16: 32,117,287 (GRCm39) T283S possibly damaging Het
Ros1 T A 10: 51,977,857 (GRCm39) Y1463F possibly damaging Het
Rtn4ip1 A G 10: 43,797,430 (GRCm39) Q223R probably null Het
Rtp4 G T 16: 23,431,679 (GRCm39) M70I probably benign Het
Sag C A 1: 87,762,340 (GRCm39) T335K probably damaging Het
Slco1a8 T C 6: 141,936,147 (GRCm39) T313A probably benign Het
St6gal1 G T 16: 23,139,891 (GRCm39) A21S probably damaging Het
Stard9 C A 2: 120,530,300 (GRCm39) L2186I probably damaging Het
Sun2 T A 15: 79,611,810 (GRCm39) probably benign Het
Taf4 G A 2: 179,565,884 (GRCm39) T849M probably damaging Het
Taok2 G A 7: 126,465,583 (GRCm39) H404Y possibly damaging Het
Tdrd7 A G 4: 45,987,582 (GRCm39) I72V probably damaging Het
Trav1 T A 14: 52,666,155 (GRCm39) S52T probably damaging Het
Trim30a C T 7: 104,078,559 (GRCm39) probably null Het
Tro T C X: 149,437,565 (GRCm39) N364S possibly damaging Het
Tshz3 A G 7: 36,469,534 (GRCm39) T508A probably damaging Het
Ttc21b A G 2: 66,053,908 (GRCm39) L757P probably damaging Het
Vmn1r218 C T 13: 23,321,225 (GRCm39) Q111* probably null Het
Vmn2r75 G A 7: 85,797,309 (GRCm39) Q835* probably null Het
Xcr1 T A 9: 123,684,940 (GRCm39) D274V possibly damaging Het
Ypel5 C T 17: 73,153,332 (GRCm39) T12I 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
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 2013-01-08