Incidental Mutation 'IGL02268:Sgo2a'
ID 286991
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 # IGL02268
Quality Score
Status
Chromosome 1
Chromosomal Location 58035130-58065058 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58056881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1022 (I1022V)
Ref Sequence ENSEMBL: ENSMUSP00000027202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027202] [ENSMUST00000163061]
AlphaFold Q7TSY8
Predicted Effect probably benign
Transcript: ENSMUST00000027202
AA Change: I1022V

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000027202
Gene: ENSMUSG00000026039
AA Change: I1022V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190746
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik C T 10: 28,862,242 (GRCm39) C16Y probably benign Het
Abca13 C T 11: 9,240,626 (GRCm39) L830F probably benign Het
Apcdd1 T C 18: 63,083,259 (GRCm39) V363A probably damaging Het
Atosb T A 4: 43,036,468 (GRCm39) R88* probably null Het
Cachd1 A G 4: 100,809,294 (GRCm39) I260V possibly damaging Het
Cass4 T A 2: 172,268,962 (GRCm39) M350K possibly damaging Het
Ccnjl A G 11: 43,470,615 (GRCm39) T128A probably benign Het
Cd6 C T 19: 10,773,752 (GRCm39) G361D probably benign Het
Cdh22 T C 2: 164,965,639 (GRCm39) probably benign Het
Ces2h T A 8: 105,746,572 (GRCm39) F475Y probably benign Het
Col15a1 A T 4: 47,245,380 (GRCm39) T44S probably damaging Het
Cplx3 C T 9: 57,509,741 (GRCm39) E86K possibly damaging Het
Crbn A G 6: 106,772,004 (GRCm39) V100A possibly damaging Het
D430041D05Rik C A 2: 104,071,500 (GRCm39) V1267L possibly damaging Het
Ecrg4 T A 1: 43,770,111 (GRCm39) C23S probably damaging Het
Elapor1 C A 3: 108,375,113 (GRCm39) A585S probably benign Het
F930017D23Rik A G 10: 43,480,405 (GRCm39) noncoding transcript Het
Fastkd3 A G 13: 68,731,796 (GRCm39) D39G probably damaging Het
Golgb1 T A 16: 36,733,490 (GRCm39) S912R probably benign Het
H2-T24 T C 17: 36,328,264 (GRCm39) Y73C probably damaging Het
Ifna9 A T 4: 88,510,591 (GRCm39) L11* probably null Het
Igsf10 A T 3: 59,238,573 (GRCm39) L536* probably null Het
Itprid1 A T 6: 55,861,673 (GRCm39) probably benign Het
Kcnma1 A T 14: 23,593,144 (GRCm39) I215K probably damaging Het
Kdm4c A C 4: 74,291,953 (GRCm39) I857L possibly damaging Het
Kptn A T 7: 15,857,786 (GRCm39) H229L probably benign Het
Krt32 A T 11: 99,978,967 (GRCm39) M29K probably benign Het
Lama2 A G 10: 26,877,112 (GRCm39) probably benign Het
Lpcat2b A C 5: 107,581,982 (GRCm39) D437A probably damaging Het
Lrrc8c T C 5: 105,755,764 (GRCm39) L513P probably damaging Het
Mon1a T C 9: 107,778,997 (GRCm39) V407A possibly damaging Het
Myo5c C T 9: 75,153,519 (GRCm39) P135L probably damaging Het
Myof C T 19: 37,942,877 (GRCm39) V218M possibly damaging Het
Myof T A 19: 37,963,311 (GRCm39) I429F possibly damaging Het
Nbas A G 12: 13,455,398 (GRCm39) D1204G possibly damaging Het
Nckap1 G A 2: 80,358,962 (GRCm39) P560S probably benign Het
Notch2 G A 3: 98,044,713 (GRCm39) G1545D probably damaging Het
Ntrk1 G A 3: 87,688,838 (GRCm39) H572Y probably damaging Het
Or2t44 T C 11: 58,677,551 (GRCm39) F164L probably benign Het
Or7e177 T C 9: 20,211,588 (GRCm39) S31P probably damaging Het
Pate8 T C 9: 36,493,166 (GRCm39) Y52C possibly damaging Het
Pcdh15 A T 10: 74,178,504 (GRCm39) D587V probably damaging Het
Pik3cb T C 9: 98,928,609 (GRCm39) Y882C probably benign Het
Plch1 T A 3: 63,606,704 (GRCm39) *1074C probably null Het
Plcxd1 T C 5: 110,248,140 (GRCm39) probably benign Het
Ppp2r2d A G 7: 138,474,700 (GRCm39) N27S probably null Het
Prkar2a A G 9: 108,624,152 (GRCm39) M390V probably benign Het
Rab3gap1 A G 1: 127,796,695 (GRCm39) T18A probably damaging Het
Ranbp2 T C 10: 58,329,475 (GRCm39) probably benign Het
Rasl12 T C 9: 65,305,946 (GRCm39) S34P probably damaging Het
Rpusd3 A T 6: 113,395,818 (GRCm39) L65Q possibly damaging Het
Rtf2 A G 2: 172,310,639 (GRCm39) K290R probably damaging Het
Rwdd4a T A 8: 48,003,731 (GRCm39) L179* probably null Het
Scgb1b24 A G 7: 33,444,388 (GRCm39) E87G possibly damaging Het
Smg1 A C 7: 117,781,764 (GRCm39) I1174M probably benign Het
Spata17 A T 1: 186,872,595 (GRCm39) M72K probably damaging Het
Synpo2 G A 3: 122,910,632 (GRCm39) P338S probably damaging Het
Tpi1 G A 6: 124,791,087 (GRCm39) T50I probably benign Het
Trpm1 A G 7: 63,867,362 (GRCm39) E354G probably damaging Het
Uba2 A G 7: 33,842,161 (GRCm39) probably null Het
Wnk1 G A 6: 119,914,334 (GRCm39) R1823* probably null Het
Zfp248 A C 6: 118,430,801 (GRCm39) probably benign Het
Zfp51 A T 17: 21,683,681 (GRCm39) K99* probably null Het
Other mutations in Sgo2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Sgo2a APN 1 58,055,753 (GRCm39) missense probably damaging 1.00
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
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 2015-04-16