Incidental Mutation 'IGL03303:Ube2s'
ID 416314
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube2s
Ensembl Gene ENSMUSG00000060860
Gene Name ubiquitin-conjugating enzyme E2S
Synonyms E2-EPF, 6720465F12Rik, 0910001J09Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # IGL03303
Quality Score
Status
Chromosome 7
Chromosomal Location 4811013-4815339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4813476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 35 (V35D)
Ref Sequence ENSEMBL: ENSMUSP00000146276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079496] [ENSMUST00000205815] [ENSMUST00000205885] [ENSMUST00000206669]
AlphaFold Q921J4
Predicted Effect probably damaging
Transcript: ENSMUST00000079496
AA Change: V96D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078459
Gene: ENSMUSG00000060860
AA Change: V96D

DomainStartEndE-ValueType
UBCc 14 157 1.86e-54 SMART
low complexity region 173 181 N/A INTRINSIC
low complexity region 204 223 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000205815
AA Change: V96D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000205885
AA Change: V112D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206139
Predicted Effect probably damaging
Transcript: ENSMUST00000206669
AA Change: V35D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ubiquitin-conjugating enzyme family. The encoded protein is able to form a thiol ester linkage with ubiquitin in a ubiquitin activating enzyme-dependent manner, a characteristic property of ubiquitin carrier proteins. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,644,122 (GRCm39) V940E probably damaging Het
Agap1 T A 1: 89,592,874 (GRCm39) V307D probably damaging Het
Amd1 A G 10: 40,166,121 (GRCm39) V286A possibly damaging Het
Bltp1 A G 3: 36,924,226 (GRCm39) E17G possibly damaging Het
Chrne T C 11: 70,505,926 (GRCm39) K453R possibly damaging Het
Ckm T A 7: 19,148,263 (GRCm39) probably benign Het
Ckmt1 A G 2: 121,190,486 (GRCm39) T138A probably benign Het
Cldn4 A G 5: 134,975,103 (GRCm39) V166A possibly damaging Het
Dclre1a T C 19: 56,535,198 (GRCm39) T129A possibly damaging Het
Dlgap2 T A 8: 14,777,812 (GRCm39) D352E probably damaging Het
Dnmt1 A G 9: 20,838,006 (GRCm39) I236T probably benign Het
Enam G T 5: 88,652,450 (GRCm39) V1320L probably benign Het
Ezh1 A C 11: 101,086,497 (GRCm39) probably null Het
F13b A T 1: 139,440,774 (GRCm39) D410V possibly damaging Het
Fcrl6 A T 1: 172,425,255 (GRCm39) Y259N probably damaging Het
Fpr-rs7 A T 17: 20,334,001 (GRCm39) F163Y possibly damaging Het
Gpihbp1 C T 15: 75,469,827 (GRCm39) Q181* probably null Het
Htr2b T C 1: 86,027,061 (GRCm39) probably benign Het
Igkv1-35 A G 6: 69,988,635 (GRCm39) I8T probably benign Het
Kcnq2 T C 2: 180,724,182 (GRCm39) T584A probably benign Het
Khdrbs3 A G 15: 68,896,672 (GRCm39) T111A probably benign Het
Krtap29-1 A T 11: 99,869,669 (GRCm39) C71S probably benign Het
Lrrc4c A T 2: 97,459,937 (GRCm39) I188F probably damaging Het
Med1 G T 11: 98,049,178 (GRCm39) N539K probably damaging Het
Mga T A 2: 119,733,933 (GRCm39) D260E probably damaging Het
Mnd1 A G 3: 84,012,244 (GRCm39) I155T probably benign Het
Msrb3 T C 10: 120,620,046 (GRCm39) D91G probably benign Het
Mycbp2 A T 14: 103,485,194 (GRCm39) D1102E probably damaging Het
Nfx1 T A 4: 41,004,323 (GRCm39) probably benign Het
Nrsn2 T C 2: 152,216,131 (GRCm39) D24G possibly damaging Het
Or4c127 A T 2: 89,832,810 (GRCm39) K20I possibly damaging Het
Osmr T A 15: 6,872,289 (GRCm39) R268S probably benign Het
Pelo C A 13: 115,225,197 (GRCm39) V343L probably damaging Het
Rp1 T A 1: 4,415,040 (GRCm39) N2024I probably damaging Het
Rps6ka2 C T 17: 7,495,411 (GRCm39) Q33* probably null Het
Slfn2 G A 11: 82,960,293 (GRCm39) V91I possibly damaging Het
Socs6 G T 18: 88,887,868 (GRCm39) A349E probably damaging Het
Syt2 A G 1: 134,669,649 (GRCm39) N97D probably benign Het
Tas2r123 T A 6: 132,824,401 (GRCm39) H99Q probably damaging Het
Tmc3 A G 7: 83,239,933 (GRCm39) probably benign Het
Usp32 A T 11: 84,913,658 (GRCm39) V891D probably damaging Het
Vmn1r169 A T 7: 23,277,434 (GRCm39) E275D probably benign Het
Vps13c A G 9: 67,841,786 (GRCm39) H1936R probably benign Het
Wrap73 C A 4: 154,231,000 (GRCm39) A92E probably damaging Het
Zfhx4 C T 3: 5,468,410 (GRCm39) T2856M probably damaging Het
Zmym1 A T 4: 126,942,927 (GRCm39) I487N probably damaging Het
Other mutations in Ube2s
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1816:Ube2s UTSW 7 4,814,554 (GRCm39) missense probably damaging 1.00
R5242:Ube2s UTSW 7 4,813,434 (GRCm39) missense possibly damaging 0.90
R5654:Ube2s UTSW 7 4,811,431 (GRCm39) missense probably damaging 1.00
R6627:Ube2s UTSW 7 4,813,581 (GRCm39) missense possibly damaging 0.82
R7453:Ube2s UTSW 7 4,813,435 (GRCm39) nonsense probably null
R8688:Ube2s UTSW 7 4,813,577 (GRCm39) missense probably benign 0.12
R9124:Ube2s UTSW 7 4,814,510 (GRCm39) missense probably damaging 0.97
Posted On 2016-08-02