Incidental Mutation 'IGL00534:Sgo2a'
ID7473
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 #IGL00534
Quality Score
Status
Chromosome1
Chromosomal Location57995971-58025899 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 58016344 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 562 (N562K)
Ref Sequence ENSEMBL: ENSMUSP00000027202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027202] [ENSMUST00000163061]
Predicted Effect probably damaging
Transcript: ENSMUST00000027202
AA Change: N562K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027202
Gene: ENSMUSG00000026039
AA Change: N562K

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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arsj G T 3: 126,364,945 A58S probably benign Het
Dchs1 A T 7: 105,757,943 S2148T probably benign Het
Esd T C 14: 74,738,461 V34A probably damaging Het
Esyt1 A G 10: 128,515,684 probably null Het
Glce G A 9: 62,060,483 T462M probably damaging Het
Gm382 A G X: 127,063,615 Y1141C probably damaging Het
Gm8909 A T 17: 36,168,129 I76N probably damaging Het
Hsd3b1 T C 3: 98,853,246 E143G probably damaging Het
Igf2r T C 17: 12,739,328 T153A probably damaging Het
Irs1 A G 1: 82,288,471 S675P probably benign Het
Lars A T 18: 42,229,654 H573Q probably damaging Het
Lman2 T C 13: 55,351,242 E237G possibly damaging Het
Map2k4 C A 11: 65,719,479 probably benign Het
Pde6b T C 5: 108,426,571 probably benign Het
Pomgnt1 T C 4: 116,152,761 L136P probably damaging Het
Ralgapb T A 2: 158,430,500 M158K possibly damaging Het
Serpina3n A G 12: 104,412,345 E308G probably benign Het
Sipa1l2 T C 8: 125,491,806 Y264C probably damaging Het
Snx27 G A 3: 94,561,972 H21Y probably damaging Het
Other mutations in Sgo2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Sgo2a APN 1 58016594 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
IGL02268:Sgo2a APN 1 58017722 missense probably benign 0.10
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
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
X0065:Sgo2a UTSW 1 58016358 missense probably damaging 1.00
Posted On2012-04-20