Incidental Mutation 'IGL03145:Ube2o'
ID 410866
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube2o
Ensembl Gene ENSMUSG00000020802
Gene Name ubiquitin-conjugating enzyme E2O
Synonyms B230113M03Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.823) question?
Stock # IGL03145
Quality Score
Status
Chromosome 11
Chromosomal Location 116428566-116472273 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116434835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 542 (E542G)
Ref Sequence ENSEMBL: ENSMUSP00000080791 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082152]
AlphaFold Q6ZPJ3
Predicted Effect probably damaging
Transcript: ENSMUST00000082152
AA Change: E542G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080791
Gene: ENSMUSG00000020802
AA Change: E542G

DomainStartEndE-ValueType
low complexity region 2 47 N/A INTRINSIC
low complexity region 79 110 N/A INTRINSIC
low complexity region 289 298 N/A INTRINSIC
low complexity region 379 391 N/A INTRINSIC
low complexity region 470 505 N/A INTRINSIC
low complexity region 516 528 N/A INTRINSIC
low complexity region 705 712 N/A INTRINSIC
low complexity region 715 737 N/A INTRINSIC
coiled coil region 845 879 N/A INTRINSIC
UBCc 953 1110 2.23e-16 SMART
Blast:UBCc 1201 1274 1e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147851
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased MEF proliferation and transformation and increased pre-weaning lethality. Mice heterozygous for the allele exhibit increased total body fat amount, increased startle reflex, increased grip strength and increased circulating HDL cholesterol. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik A G 10: 21,469,337 (GRCm39) D17G probably damaging Het
Adam39 C T 8: 41,277,695 (GRCm39) P29S probably benign Het
Afap1l1 T C 18: 61,874,880 (GRCm39) K434E possibly damaging Het
Akap7 T C 10: 25,115,565 (GRCm39) T187A probably damaging Het
Atp7b A C 8: 22,508,159 (GRCm39) I479S probably damaging Het
Cdh23 T A 10: 60,212,593 (GRCm39) E1606V probably damaging Het
Cnga3 A G 1: 37,300,755 (GRCm39) S530G probably damaging Het
Col13a1 A G 10: 61,727,040 (GRCm39) Y228H probably benign Het
Cybb C A X: 9,319,892 (GRCm39) E203* probably null Het
Dnah6 A T 6: 73,018,037 (GRCm39) M3594K probably damaging Het
Galnt14 C A 17: 73,811,903 (GRCm39) Q439H possibly damaging Het
Gck T A 11: 5,859,093 (GRCm39) D158V probably damaging Het
Gm5624 A G 14: 44,798,222 (GRCm39) M85T possibly damaging Het
Hgsnat A T 8: 26,436,480 (GRCm39) N557K probably damaging Het
Idua A G 5: 108,829,362 (GRCm39) T388A probably benign Het
Itgam A G 7: 127,712,191 (GRCm39) D692G probably benign Het
Lrrtm3 A G 10: 63,924,799 (GRCm39) Y123H probably benign Het
Mccc1 C T 3: 36,022,595 (GRCm39) R566H probably benign Het
Myh7 A T 14: 55,220,802 (GRCm39) L999Q probably damaging Het
Myo6 T G 9: 80,207,947 (GRCm39) Y1146* probably null Het
Nr3c1 C A 18: 39,619,313 (GRCm39) G325W probably damaging Het
Or2r11 A G 6: 42,437,434 (GRCm39) V173A probably benign Het
Or5p72 T A 7: 108,021,806 (GRCm39) H9Q probably benign Het
Or7e170 T A 9: 19,794,735 (GRCm39) I289F possibly damaging Het
Phf1 T C 17: 27,153,344 (GRCm39) probably null Het
Piezo1 T C 8: 123,209,660 (GRCm39) T2349A probably benign Het
Pih1d1 T C 7: 44,808,545 (GRCm39) probably null Het
Pold3 A G 7: 99,745,719 (GRCm39) S145P probably damaging Het
Prpf38b G T 3: 108,811,261 (GRCm39) probably benign Het
Racgap1 A T 15: 99,521,521 (GRCm39) M545K probably benign Het
Safb T C 17: 56,912,287 (GRCm39) Y802H probably damaging Het
Serpina3f A T 12: 104,183,716 (GRCm39) M193L probably benign Het
Slc43a2 G A 11: 75,459,263 (GRCm39) V432M probably benign Het
Spata2l T C 8: 123,960,075 (GRCm39) R405G possibly damaging Het
Sv2c A G 13: 96,125,606 (GRCm39) V377A probably damaging Het
Tbc1d15 C T 10: 115,038,421 (GRCm39) M597I probably benign Het
Tenm4 A T 7: 96,492,175 (GRCm39) R1036S probably damaging Het
Tjp3 A G 10: 81,119,522 (GRCm39) Y15H probably benign Het
Tkt A G 14: 30,282,645 (GRCm39) probably benign Het
Tpm2 T C 4: 43,519,447 (GRCm39) E145G probably damaging Het
Trib2 G A 12: 15,859,932 (GRCm39) H110Y probably damaging Het
Trim60 A T 8: 65,453,224 (GRCm39) S342T probably damaging Het
Usp36 T C 11: 118,170,067 (GRCm39) D218G probably damaging Het
Zfp407 A G 18: 84,227,846 (GRCm39) L1921P probably damaging Het
Zfp983 G T 17: 21,877,924 (GRCm39) M42I probably damaging Het
Other mutations in Ube2o
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Ube2o APN 11 116,435,580 (GRCm39) missense probably benign
IGL00973:Ube2o APN 11 116,432,031 (GRCm39) missense probably damaging 1.00
IGL01291:Ube2o APN 11 116,430,960 (GRCm39) missense probably damaging 1.00
IGL01804:Ube2o APN 11 116,435,199 (GRCm39) missense probably benign 0.03
IGL02138:Ube2o APN 11 116,434,226 (GRCm39) splice site probably benign
IGL02317:Ube2o APN 11 116,432,389 (GRCm39) missense probably damaging 1.00
IGL02515:Ube2o APN 11 116,434,525 (GRCm39) missense probably damaging 1.00
IGL02535:Ube2o APN 11 116,432,591 (GRCm39) missense probably benign 0.00
IGL03062:Ube2o APN 11 116,432,468 (GRCm39) missense probably damaging 0.99
IGL03190:Ube2o APN 11 116,435,954 (GRCm39) missense probably damaging 1.00
Delay UTSW 11 116,430,898 (GRCm39) missense probably damaging 1.00
Tarry UTSW 11 116,432,194 (GRCm39) missense probably damaging 1.00
ANU05:Ube2o UTSW 11 116,430,960 (GRCm39) missense probably damaging 1.00
R0519:Ube2o UTSW 11 116,437,285 (GRCm39) critical splice donor site probably null
R0666:Ube2o UTSW 11 116,433,661 (GRCm39) missense probably damaging 1.00
R1056:Ube2o UTSW 11 116,437,290 (GRCm39) missense probably damaging 1.00
R1202:Ube2o UTSW 11 116,432,408 (GRCm39) missense probably damaging 1.00
R1424:Ube2o UTSW 11 116,434,558 (GRCm39) missense probably benign
R1469:Ube2o UTSW 11 116,436,650 (GRCm39) splice site probably benign
R1720:Ube2o UTSW 11 116,435,433 (GRCm39) missense probably benign
R1791:Ube2o UTSW 11 116,432,320 (GRCm39) missense probably benign 0.01
R1893:Ube2o UTSW 11 116,439,661 (GRCm39) missense possibly damaging 0.68
R1997:Ube2o UTSW 11 116,436,163 (GRCm39) missense probably damaging 0.99
R2156:Ube2o UTSW 11 116,471,972 (GRCm39) missense probably damaging 0.98
R2199:Ube2o UTSW 11 116,435,571 (GRCm39) missense probably benign
R2414:Ube2o UTSW 11 116,439,683 (GRCm39) missense probably benign 0.02
R3766:Ube2o UTSW 11 116,437,689 (GRCm39) splice site probably benign
R4749:Ube2o UTSW 11 116,432,734 (GRCm39) missense probably benign 0.11
R5213:Ube2o UTSW 11 116,432,285 (GRCm39) missense possibly damaging 0.82
R5403:Ube2o UTSW 11 116,439,633 (GRCm39) missense possibly damaging 0.48
R5441:Ube2o UTSW 11 116,435,268 (GRCm39) missense probably damaging 1.00
R5727:Ube2o UTSW 11 116,430,496 (GRCm39) missense probably damaging 1.00
R6125:Ube2o UTSW 11 116,435,576 (GRCm39) missense possibly damaging 0.50
R6125:Ube2o UTSW 11 116,432,204 (GRCm39) missense probably damaging 1.00
R6234:Ube2o UTSW 11 116,430,316 (GRCm39) missense probably benign 0.17
R6278:Ube2o UTSW 11 116,430,369 (GRCm39) missense probably damaging 1.00
R6324:Ube2o UTSW 11 116,430,185 (GRCm39) missense probably benign 0.00
R6346:Ube2o UTSW 11 116,432,194 (GRCm39) missense probably damaging 1.00
R6389:Ube2o UTSW 11 116,439,684 (GRCm39) missense probably null 0.72
R7040:Ube2o UTSW 11 116,432,686 (GRCm39) missense probably benign 0.08
R7072:Ube2o UTSW 11 116,432,327 (GRCm39) missense probably benign 0.13
R7270:Ube2o UTSW 11 116,434,761 (GRCm39) missense possibly damaging 0.62
R7420:Ube2o UTSW 11 116,430,898 (GRCm39) missense probably damaging 1.00
R7593:Ube2o UTSW 11 116,471,905 (GRCm39) missense possibly damaging 0.73
R7818:Ube2o UTSW 11 116,434,736 (GRCm39) missense probably damaging 1.00
R7916:Ube2o UTSW 11 116,471,884 (GRCm39) missense probably benign
R8212:Ube2o UTSW 11 116,439,624 (GRCm39) missense possibly damaging 0.54
R8679:Ube2o UTSW 11 116,432,273 (GRCm39) nonsense probably null
R9085:Ube2o UTSW 11 116,436,209 (GRCm39) missense probably damaging 1.00
R9221:Ube2o UTSW 11 116,433,664 (GRCm39) missense probably damaging 1.00
R9287:Ube2o UTSW 11 116,471,942 (GRCm39) missense probably damaging 1.00
R9388:Ube2o UTSW 11 116,430,210 (GRCm39) missense possibly damaging 0.90
R9569:Ube2o UTSW 11 116,434,823 (GRCm39) missense probably damaging 1.00
R9686:Ube2o UTSW 11 116,434,779 (GRCm39) missense probably benign
R9689:Ube2o UTSW 11 116,435,639 (GRCm39) missense possibly damaging 0.84
Posted On 2016-08-02