Incidental Mutation 'IGL01335:Ube2i'
ID 74608
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube2i
Ensembl Gene ENSMUSG00000015120
Gene Name ubiquitin-conjugating enzyme E2I
Synonyms Mmubc9, UBC9, 5830467E05Rik, Ubce9
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01335
Quality Score
Status
Chromosome 17
Chromosomal Location 25480890-25493596 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 25488410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 11 (Q11H)
Ref Sequence ENSEMBL: ENSMUSP00000133311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049911] [ENSMUST00000172520] [ENSMUST00000172587] [ENSMUST00000172618] [ENSMUST00000173084] [ENSMUST00000172868] [ENSMUST00000174001] [ENSMUST00000173713] [ENSMUST00000174031] [ENSMUST00000173231] [ENSMUST00000173621] [ENSMUST00000174216]
AlphaFold P63280
Predicted Effect possibly damaging
Transcript: ENSMUST00000049911
AA Change: Q11H

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000055714
Gene: ENSMUSG00000015120
AA Change: Q11H

DomainStartEndE-ValueType
UBCc 7 157 4.03e-73 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172462
Predicted Effect probably damaging
Transcript: ENSMUST00000172520
AA Change: Q11H

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172569
Predicted Effect possibly damaging
Transcript: ENSMUST00000172587
AA Change: Q11H

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133590
Gene: ENSMUSG00000015120
AA Change: Q11H

DomainStartEndE-ValueType
UBCc 7 101 1.11e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000172618
AA Change: Q11H

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134169
Gene: ENSMUSG00000015120
AA Change: Q11H

DomainStartEndE-ValueType
UBCc 7 157 4.03e-73 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000173084
AA Change: Q11H

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134261
Gene: ENSMUSG00000015120
AA Change: Q11H

DomainStartEndE-ValueType
UBCc 7 157 4.03e-73 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000172868
AA Change: Q11H

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134540
Gene: ENSMUSG00000015120
AA Change: Q11H

DomainStartEndE-ValueType
UBCc 7 101 1.11e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000174001
AA Change: Q11H

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134450
Gene: ENSMUSG00000015120
AA Change: Q11H

DomainStartEndE-ValueType
UBCc 7 157 4.03e-73 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000173713
AA Change: Q11H

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134491
Gene: ENSMUSG00000015120
AA Change: Q11H

DomainStartEndE-ValueType
UBCc 7 157 4.03e-73 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000174031
AA Change: Q11H

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134350
Gene: ENSMUSG00000015120
AA Change: Q11H

DomainStartEndE-ValueType
UBCc 7 157 4.03e-73 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173231
AA Change: Q11H

PolyPhen 2 Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000173621
AA Change: Q11H

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000134161
Gene: ENSMUSG00000015120
AA Change: Q11H

DomainStartEndE-ValueType
UBCc 7 102 2.69e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174216
SMART Domains Protein: ENSMUSP00000134546
Gene: ENSMUSG00000015120

DomainStartEndE-ValueType
UBCc 1 100 2.32e-14 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Four alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a targeted null mutation die prior to E7.5. In culture, mutant blastocysts are viable up to 2 days but show subsequent apoptosis of the inner cell mass. Mutant cells exhibit major chromosome condensation and segregation defects as well as gross defects in nuclear organization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik T A 2: 152,284,307 (GRCm39) M300K possibly damaging Het
Adamts14 T A 10: 61,034,460 (GRCm39) R1143W possibly damaging Het
Ankrd28 T C 14: 31,423,981 (GRCm39) Y1083C probably damaging Het
Anxa8 T C 14: 33,811,547 (GRCm39) M34T probably damaging Het
Aox1 G T 1: 58,121,312 (GRCm39) E928* probably null Het
Atp8b5 T A 4: 43,302,628 (GRCm39) F50L possibly damaging Het
Brpf1 A G 6: 113,296,298 (GRCm39) S863G probably damaging Het
Cdc42bpb A G 12: 111,260,530 (GRCm39) probably benign Het
Cdh6 C T 15: 13,051,395 (GRCm39) A413T probably benign Het
Cfap96 A T 8: 46,426,642 (GRCm39) probably benign Het
Cfap97 A G 8: 46,623,492 (GRCm39) Q294R probably damaging Het
Cit C T 5: 116,046,889 (GRCm39) probably benign Het
Dmbt1 A G 7: 130,690,497 (GRCm39) Y736C possibly damaging Het
Eno2 C T 6: 124,743,618 (GRCm39) G107E probably damaging Het
Gja8 T C 3: 96,826,558 (GRCm39) Q368R probably benign Het
Gm3633 T A 14: 42,462,595 (GRCm39) probably benign Het
Gm4987 A T X: 45,544,755 (GRCm39) noncoding transcript Het
Gna13 G A 11: 109,256,569 (GRCm39) R164Q probably damaging Het
Grhl1 A T 12: 24,658,057 (GRCm39) E351D probably damaging Het
Idua A G 5: 108,828,737 (GRCm39) Q280R probably benign Het
Igsf5 T A 16: 96,174,353 (GRCm39) probably benign Het
Mrpl52 T C 14: 54,664,656 (GRCm39) Y39H probably damaging Het
Naa16 A T 14: 79,582,556 (GRCm39) probably benign Het
Naa35 T A 13: 59,764,610 (GRCm39) L338Q probably damaging Het
Nat8l A T 5: 34,155,791 (GRCm39) Y149F probably benign Het
Nck1 A T 9: 100,379,790 (GRCm39) W154R probably damaging Het
Ncoa1 A T 12: 4,347,520 (GRCm39) S351R probably benign Het
Or10w1 A T 19: 13,632,540 (GRCm39) H249L probably damaging Het
Or12e10 A T 2: 87,640,790 (GRCm39) T209S probably damaging Het
Or6c8b T C 10: 128,882,380 (GRCm39) K184R probably benign Het
Or8k1 A T 2: 86,047,916 (GRCm39) L46Q probably damaging Het
Pacs1 A T 19: 5,192,660 (GRCm39) V624E probably damaging Het
Pde6b G A 5: 108,571,379 (GRCm39) R444H probably benign Het
Pigk A T 3: 152,448,173 (GRCm39) T226S probably benign Het
Prkdc T C 16: 15,634,760 (GRCm39) probably null Het
Ptbp1 G A 10: 79,698,708 (GRCm39) probably null Het
Pyroxd1 T C 6: 142,307,484 (GRCm39) V418A probably damaging Het
Rhot1 A T 11: 80,141,055 (GRCm39) D421V probably damaging Het
Rimkla T C 4: 119,335,156 (GRCm39) T76A possibly damaging Het
Rtn1 A G 12: 72,355,124 (GRCm39) V274A probably benign Het
Tatdn2 T A 6: 113,681,017 (GRCm39) M289K probably benign Het
Trak1 A G 9: 121,283,382 (GRCm39) T476A possibly damaging Het
Ugt2a3 A T 5: 87,484,644 (GRCm39) C127S probably damaging Het
Uimc1 T A 13: 55,182,724 (GRCm39) Q619L probably benign Het
Upk3a T A 15: 84,903,786 (GRCm39) Y162N probably damaging Het
Usp33 T C 3: 152,097,854 (GRCm39) S849P probably damaging Het
Vmn2r120 G A 17: 57,832,732 (GRCm39) T149I possibly damaging Het
Vmn2r15 G A 5: 109,434,602 (GRCm39) P701S possibly damaging Het
Vmn2r28 T C 7: 5,484,087 (GRCm39) I704M possibly damaging Het
Wdhd1 T C 14: 47,488,239 (GRCm39) E756G possibly damaging Het
Xlr3c C A X: 72,303,639 (GRCm39) V102F probably benign Het
Zfp384 T G 6: 125,002,016 (GRCm39) D220E probably benign Het
Zfp521 A T 18: 13,977,776 (GRCm39) V879E probably benign Het
Other mutations in Ube2i
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0485:Ube2i UTSW 17 25,488,259 (GRCm39) unclassified probably benign
R1449:Ube2i UTSW 17 25,487,538 (GRCm39) missense possibly damaging 0.89
R4596:Ube2i UTSW 17 25,484,298 (GRCm39) start gained probably benign
R4810:Ube2i UTSW 17 25,484,121 (GRCm39) missense probably benign 0.05
R5180:Ube2i UTSW 17 25,484,268 (GRCm39) utr 5 prime probably benign
Posted On 2013-10-07