Incidental Mutation 'IGL02268:Sgo2a'
ID286991
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sgo2a
Ensembl Gene ENSMUSG00000026039
Gene Nameshugoshin 2A
SynonymsSgol2a, Sgol2, 1110007N04Rik, D1Ertd8e, 5730576N04Rik, Tripin
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02268
Quality Score
Status
Chromosome1
Chromosomal Location57995971-58025899 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 58017722 bp
ZygosityHeterozygous
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]
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
1500015O10Rik T A 1: 43,730,951 C23S probably damaging Het
2310057J18Rik C T 10: 28,986,246 C16Y probably benign Het
5330417C22Rik C A 3: 108,467,797 A585S probably benign Het
Abca13 C T 11: 9,290,626 L830F probably benign Het
Apcdd1 T C 18: 62,950,188 V363A probably damaging Het
Cachd1 A G 4: 100,952,097 I260V possibly damaging Het
Cass4 T A 2: 172,427,042 M350K possibly damaging Het
Ccdc129 A T 6: 55,884,688 probably benign Het
Ccnjl A G 11: 43,579,788 T128A probably benign Het
Cd6 C T 19: 10,796,388 G361D probably benign Het
Cdh22 T C 2: 165,123,719 probably benign Het
Ces2h T A 8: 105,019,940 F475Y probably benign Het
Col15a1 A T 4: 47,245,380 T44S probably damaging Het
Cplx3 C T 9: 57,602,458 E86K possibly damaging Het
Crbn A G 6: 106,795,043 V100A possibly damaging Het
D430041D05Rik C A 2: 104,241,155 V1267L possibly damaging Het
F930017D23Rik A G 10: 43,604,409 noncoding transcript Het
Fam214b T A 4: 43,036,468 R88* probably null Het
Fastkd3 A G 13: 68,583,677 D39G probably damaging Het
Gm17689 T C 9: 36,581,870 Y52C possibly damaging Het
Golgb1 T A 16: 36,913,128 S912R probably benign Het
H2-T24 T C 17: 36,017,372 Y73C probably damaging Het
Ifna9 A T 4: 88,592,354 L11* probably null Het
Igsf10 A T 3: 59,331,152 L536* probably null Het
Kcnma1 A T 14: 23,543,076 I215K probably damaging Het
Kdm4c A C 4: 74,373,716 I857L possibly damaging Het
Kptn A T 7: 16,123,861 H229L probably benign Het
Krt32 A T 11: 100,088,141 M29K probably benign Het
Lama2 A G 10: 27,001,116 probably benign Het
Lpcat2b A C 5: 107,434,116 D437A probably damaging Het
Lrrc8c T C 5: 105,607,898 L513P probably damaging Het
Mon1a T C 9: 107,901,798 V407A possibly damaging Het
Myo5c C T 9: 75,246,237 P135L probably damaging Het
Myof C T 19: 37,954,429 V218M possibly damaging Het
Myof T A 19: 37,974,863 I429F possibly damaging Het
Nbas A G 12: 13,405,397 D1204G possibly damaging Het
Nckap1 G A 2: 80,528,618 P560S probably benign Het
Notch2 G A 3: 98,137,397 G1545D probably damaging Het
Ntrk1 G A 3: 87,781,531 H572Y probably damaging Het
Olfr314 T C 11: 58,786,725 F164L probably benign Het
Olfr873 T C 9: 20,300,292 S31P probably damaging Het
Pcdh15 A T 10: 74,342,672 D587V probably damaging Het
Pik3cb T C 9: 99,046,556 Y882C probably benign Het
Plch1 T A 3: 63,699,283 *1074C probably null Het
Plcxd1 T C 5: 110,100,274 probably benign Het
Ppp2r2d A G 7: 138,872,971 N27S probably null Het
Prkar2a A G 9: 108,746,953 M390V probably benign Het
Rab3gap1 A G 1: 127,868,958 T18A probably damaging Het
Ranbp2 T C 10: 58,493,653 probably benign Het
Rasl12 T C 9: 65,398,664 S34P probably damaging Het
Rpusd3 A T 6: 113,418,857 L65Q possibly damaging Het
Rtf2 A G 2: 172,468,719 K290R probably damaging Het
Rwdd4a T A 8: 47,550,696 L179* probably null Het
Scgb1b24 A G 7: 33,744,963 E87G possibly damaging Het
Smg1 A C 7: 118,182,541 I1174M probably benign Het
Spata17 A T 1: 187,140,398 M72K probably damaging Het
Synpo2 G A 3: 123,116,983 P338S probably damaging Het
Tpi1 G A 6: 124,814,124 T50I probably benign Het
Trpm1 A G 7: 64,217,614 E354G probably damaging Het
Uba2 A G 7: 34,142,736 probably null Het
Wnk1 G A 6: 119,937,373 R1823* probably null Het
Zfp248 A C 6: 118,453,840 probably benign Het
Zfp51 A T 17: 21,463,419 K99* probably null Het
Other mutations in Sgo2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Sgo2a APN 1 58016594 missense probably damaging 1.00
IGL00534:Sgo2a APN 1 58016344 missense probably damaging 1.00
IGL00902:Sgo2a APN 1 58016099 missense probably benign 0.00
IGL01571:Sgo2a APN 1 58017974 missense probably damaging 0.99
IGL02756:Sgo2a APN 1 58016350 missense probably damaging 1.00
IGL02887:Sgo2a APN 1 58016352 missense probably damaging 0.99
IGL02991:Sgo2a APN 1 58015355 intron probably benign
crazy UTSW 1 58017795 missense probably benign 0.11
harpo UTSW 1 58019660 nonsense probably null
mashugana UTSW 1 58016567 missense probably damaging 1.00
meshugas UTSW 1 58002933 nonsense probably null
R0036:Sgo2a UTSW 1 58015628 missense probably benign 0.14
R0036:Sgo2a UTSW 1 58015628 missense probably benign 0.14
R0095:Sgo2a UTSW 1 58015555 missense probably benign 0.11
R0325:Sgo2a UTSW 1 58016697 missense probably benign
R0464:Sgo2a UTSW 1 58000094 missense probably damaging 0.98
R0699:Sgo2a UTSW 1 57998149 nonsense probably null
R1251:Sgo2a UTSW 1 57999962 critical splice acceptor site probably null
R1355:Sgo2a UTSW 1 58017965 missense possibly damaging 0.91
R1457:Sgo2a UTSW 1 58015806 missense probably benign 0.00
R2244:Sgo2a UTSW 1 58017054 missense probably benign 0.00
R3896:Sgo2a UTSW 1 58013646 missense probably damaging 0.99
R4919:Sgo2a UTSW 1 57998134 missense probably damaging 0.99
R5030:Sgo2a UTSW 1 58017759 nonsense probably null
R5123:Sgo2a UTSW 1 58016567 missense probably damaging 1.00
R5317:Sgo2a UTSW 1 58015524 missense probably benign
R5767:Sgo2a UTSW 1 58019660 nonsense probably null
R5844:Sgo2a UTSW 1 58016397 missense probably damaging 0.99
R6018:Sgo2a UTSW 1 58016959 missense probably benign 0.01
R6039:Sgo2a UTSW 1 58016616 missense possibly damaging 0.78
R6039:Sgo2a UTSW 1 58016616 missense possibly damaging 0.78
R6450:Sgo2a UTSW 1 58002933 nonsense probably null
R6998:Sgo2a UTSW 1 58016640 missense probably damaging 0.99
R7073:Sgo2a UTSW 1 58017785 missense possibly damaging 0.73
R7508:Sgo2a UTSW 1 58017795 missense probably benign 0.11
R7722:Sgo2a UTSW 1 58016537 missense probably benign 0.45
R8094:Sgo2a UTSW 1 58017141 missense possibly damaging 0.77
X0065:Sgo2a UTSW 1 58016358 missense probably damaging 1.00
Posted On2015-04-16