Incidental Mutation 'IGL00507:Sgo2a'
ID 7472
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgo2a
Ensembl Gene ENSMUSG00000026039
Gene Name shugoshin 2A
Synonyms Tripin, 5730576N04Rik, D1Ertd8e, Sgol2, Sgol2a, 1110007N04Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00507
Quality Score
Status
Chromosome 1
Chromosomal Location 58035130-58065058 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58055753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 646 (F646I)
Ref Sequence ENSEMBL: ENSMUSP00000027202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027202] [ENSMUST00000163061]
AlphaFold Q7TSY8
Predicted Effect probably damaging
Transcript: ENSMUST00000027202
AA Change: F646I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027202
Gene: ENSMUSG00000026039
AA Change: F646I

DomainStartEndE-ValueType
coiled coil region 54 109 N/A INTRINSIC
low complexity region 182 198 N/A INTRINSIC
low complexity region 371 381 N/A INTRINSIC
low complexity region 396 431 N/A INTRINSIC
low complexity region 583 597 N/A INTRINSIC
low complexity region 718 729 N/A INTRINSIC
low complexity region 1068 1078 N/A INTRINSIC
low complexity region 1112 1125 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163061
SMART Domains Protein: ENSMUSP00000124053
Gene: ENSMUSG00000054770

DomainStartEndE-ValueType
BTB 23 123 1.01e-2 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display male and female infertility with abnormalities in meiosis but not in mitosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 C T 9: 54,529,712 (GRCm39) probably benign Het
Adgrb3 T A 1: 25,113,796 (GRCm39) R1450S possibly damaging Het
Apc A G 18: 34,449,979 (GRCm39) I2258V probably benign Het
Atxn2l C A 7: 126,095,756 (GRCm39) A374S possibly damaging Het
Cacna1a T A 8: 85,297,837 (GRCm39) Y1182* probably null Het
Cc2d1b G T 4: 108,486,927 (GRCm39) A647S probably damaging Het
Csn2 A G 5: 87,842,632 (GRCm39) S116P probably benign Het
Eya4 G A 10: 23,033,434 (GRCm39) Q163* probably null Het
Fam47c A T X: 77,781,931 (GRCm39) D171V probably benign Het
Fhdc1 A T 3: 84,356,107 (GRCm39) C446S probably damaging Het
Fkbp9 T A 6: 56,827,686 (GRCm39) V169E probably damaging Het
Fras1 A T 5: 96,926,048 (GRCm39) I3751F probably damaging Het
Gkn1 T C 6: 87,323,321 (GRCm39) Y164C probably damaging Het
Hs3st5 T C 10: 36,708,918 (GRCm39) I151T probably benign Het
Ighv8-6 A T 12: 115,129,472 (GRCm39) S95T probably damaging Het
Loxhd1 A G 18: 77,420,263 (GRCm39) I296V probably benign Het
Lrrc66 T C 5: 73,764,457 (GRCm39) E862G probably benign Het
Ltbp3 T C 19: 5,806,044 (GRCm39) V934A probably damaging Het
Mpp3 A T 11: 101,892,929 (GRCm39) I501K possibly damaging Het
Mroh2b C T 15: 4,991,609 (GRCm39) T1569I probably damaging Het
Nup133 A T 8: 124,645,706 (GRCm39) Y626* probably null Het
Pak3 T A X: 142,572,329 (GRCm39) N477K probably damaging Het
Plod3 A G 5: 137,025,030 (GRCm39) H714R possibly damaging Het
Ppil1 T C 17: 29,470,675 (GRCm39) N102S probably damaging Het
Rapgef6 A T 11: 54,554,935 (GRCm39) R996* probably null Het
Scd3 G A 19: 44,224,273 (GRCm39) D169N probably damaging Het
Slc5a8 A G 10: 88,743,902 (GRCm39) Y346C possibly damaging Het
Slc7a15 A T 12: 8,585,474 (GRCm39) V49E probably damaging Het
Stard8 G A X: 98,112,941 (GRCm39) E649K probably damaging Het
Other mutations in Sgo2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Sgo2a APN 1 58,055,503 (GRCm39) missense probably damaging 1.00
IGL00902:Sgo2a APN 1 58,055,258 (GRCm39) missense probably benign 0.00
IGL01571:Sgo2a APN 1 58,057,133 (GRCm39) missense probably damaging 0.99
IGL02268:Sgo2a APN 1 58,056,881 (GRCm39) missense probably benign 0.10
IGL02756:Sgo2a APN 1 58,055,509 (GRCm39) missense probably damaging 1.00
IGL02887:Sgo2a APN 1 58,055,511 (GRCm39) missense probably damaging 0.99
IGL02991:Sgo2a APN 1 58,054,514 (GRCm39) intron probably benign
crazy UTSW 1 58,056,954 (GRCm39) missense probably benign 0.11
harpo UTSW 1 58,058,819 (GRCm39) nonsense probably null
mashugana UTSW 1 58,055,726 (GRCm39) missense probably damaging 1.00
meshugas UTSW 1 58,042,092 (GRCm39) nonsense probably null
R0036:Sgo2a UTSW 1 58,054,787 (GRCm39) missense probably benign 0.14
R0036:Sgo2a UTSW 1 58,054,787 (GRCm39) missense probably benign 0.14
R0095:Sgo2a UTSW 1 58,054,714 (GRCm39) missense probably benign 0.11
R0325:Sgo2a UTSW 1 58,055,856 (GRCm39) missense probably benign
R0464:Sgo2a UTSW 1 58,039,253 (GRCm39) missense probably damaging 0.98
R0699:Sgo2a UTSW 1 58,037,308 (GRCm39) nonsense probably null
R1251:Sgo2a UTSW 1 58,039,121 (GRCm39) critical splice acceptor site probably null
R1355:Sgo2a UTSW 1 58,057,124 (GRCm39) missense possibly damaging 0.91
R1457:Sgo2a UTSW 1 58,054,965 (GRCm39) missense probably benign 0.00
R2244:Sgo2a UTSW 1 58,056,213 (GRCm39) missense probably benign 0.00
R3896:Sgo2a UTSW 1 58,052,805 (GRCm39) missense probably damaging 0.99
R4919:Sgo2a UTSW 1 58,037,293 (GRCm39) missense probably damaging 0.99
R5030:Sgo2a UTSW 1 58,056,918 (GRCm39) nonsense probably null
R5123:Sgo2a UTSW 1 58,055,726 (GRCm39) missense probably damaging 1.00
R5317:Sgo2a UTSW 1 58,054,683 (GRCm39) missense probably benign
R5767:Sgo2a UTSW 1 58,058,819 (GRCm39) nonsense probably null
R5844:Sgo2a UTSW 1 58,055,556 (GRCm39) missense probably damaging 0.99
R6018:Sgo2a UTSW 1 58,056,118 (GRCm39) missense probably benign 0.01
R6039:Sgo2a UTSW 1 58,055,775 (GRCm39) missense possibly damaging 0.78
R6039:Sgo2a UTSW 1 58,055,775 (GRCm39) missense possibly damaging 0.78
R6450:Sgo2a UTSW 1 58,042,092 (GRCm39) nonsense probably null
R6998:Sgo2a UTSW 1 58,055,799 (GRCm39) missense probably damaging 0.99
R7073:Sgo2a UTSW 1 58,056,944 (GRCm39) missense possibly damaging 0.73
R7508:Sgo2a UTSW 1 58,056,954 (GRCm39) missense probably benign 0.11
R7722:Sgo2a UTSW 1 58,055,696 (GRCm39) missense probably benign 0.45
R8094:Sgo2a UTSW 1 58,056,300 (GRCm39) missense possibly damaging 0.77
R8176:Sgo2a UTSW 1 58,056,252 (GRCm39) missense possibly damaging 0.93
R8782:Sgo2a UTSW 1 58,056,616 (GRCm39) start gained probably benign
R8899:Sgo2a UTSW 1 58,058,822 (GRCm39) missense possibly damaging 0.85
R8912:Sgo2a UTSW 1 58,056,560 (GRCm39) missense probably damaging 0.99
R9106:Sgo2a UTSW 1 58,037,283 (GRCm39) missense possibly damaging 0.59
R9256:Sgo2a UTSW 1 58,058,772 (GRCm39) missense possibly damaging 0.77
R9688:Sgo2a UTSW 1 58,056,737 (GRCm39) missense probably damaging 1.00
X0065:Sgo2a UTSW 1 58,055,517 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20