Incidental Mutation 'R9751:Ube2g2'
ID 732523
Institutional Source Beutler Lab
Gene Symbol Ube2g2
Ensembl Gene ENSMUSG00000009293
Gene Name ubiquitin-conjugating enzyme E2G 2
Synonyms UBC7, D10Xrf369, 1110003O05Rik, Ubc7p
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.724) question?
Stock # R9751 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 77458155-77481824 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 77480307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 138 (V138I)
Ref Sequence ENSEMBL: ENSMUSP00000133515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172813] [ENSMUST00000174113] [ENSMUST00000174510] [ENSMUST00000174546]
AlphaFold P60605
PDB Structure Crystal structure of the ubiquitin conjugating enzyme Ube2g2 bound to the G2BR domain of ubiquitin ligase gp78 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000172772
SMART Domains Protein: ENSMUSP00000134397
Gene: ENSMUSG00000009293

DomainStartEndE-ValueType
SCOP:d2ucz__ 2 41 7e-12 SMART
PDB:3H8K|A 2 96 3e-24 PDB
Blast:UBCc 6 96 3e-20 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000172813
AA Change: V68I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000134670
Gene: ENSMUSG00000009293
AA Change: V68I

DomainStartEndE-ValueType
UBCc 1 70 1.2e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174113
SMART Domains Protein: ENSMUSP00000134357
Gene: ENSMUSG00000112241

DomainStartEndE-ValueType
UBQ 17 74 4.07e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174510
AA Change: V138I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000133515
Gene: ENSMUSG00000009293
AA Change: V138I

DomainStartEndE-ValueType
UBCc 7 164 1.33e-64 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174546
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 99.0%
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. The encoded protein shares 100% sequence identity with the mouse counterpart. This gene is ubiquitously expressed, with high expression seen in adult muscle. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,881,126 (GRCm39) N514D probably benign Het
Adgre1 G A 17: 57,757,101 (GRCm39) R786H probably null Het
Ankrd7 G A 6: 18,868,024 (GRCm39) V97I probably damaging Het
Bltp1 A G 3: 37,065,889 (GRCm39) I54M Het
Bmper C T 9: 23,318,009 (GRCm39) P543S possibly damaging Het
Brwd1 A T 16: 95,795,015 (GRCm39) M2233K possibly damaging Het
C1s2 G T 6: 124,602,553 (GRCm39) P553T probably damaging Het
Cachd1 G A 4: 100,823,438 (GRCm39) V497I possibly damaging Het
Cacng4 A G 11: 107,626,019 (GRCm39) S191P probably damaging Het
Cd109 C A 9: 78,605,442 (GRCm39) T1015K probably damaging Het
Clstn2 A G 9: 97,339,703 (GRCm39) L756P probably damaging Het
Crybg3 A T 16: 59,377,887 (GRCm39) D1122E possibly damaging Het
Csf2 A T 11: 54,140,420 (GRCm39) L6* probably null Het
Csnk1g2 T A 10: 80,473,745 (GRCm39) Y71N possibly damaging Het
Dlg2 C A 7: 90,564,731 (GRCm39) H116N probably benign Het
Dnah14 C T 1: 181,619,610 (GRCm39) S3978L probably damaging Het
Dpp8 C T 9: 64,960,453 (GRCm39) T328I probably null Het
Dync2i1 T A 12: 116,205,403 (GRCm39) probably null Het
Dysf T C 6: 84,163,450 (GRCm39) V1625A probably damaging Het
Efcab3 G A 11: 104,783,911 (GRCm39) G2754E probably benign Het
Egf C A 3: 129,548,538 (GRCm39) V26F probably damaging Het
Eif1ad19 T C 12: 87,740,526 (GRCm39) N11S possibly damaging Het
Fam20a T A 11: 109,565,992 (GRCm39) Y414F probably damaging Het
Fsip2 T C 2: 82,818,241 (GRCm39) I4658T probably benign Het
Hycc1 C T 5: 24,196,748 (GRCm39) E47K probably benign Het
Igflr1 A T 7: 30,266,653 (GRCm39) Q167L possibly damaging Het
Krt79 T G 15: 101,839,196 (GRCm39) E424D probably benign Het
Map3k6 A G 4: 132,979,168 (GRCm39) probably null Het
Mcpt4 A G 14: 56,297,511 (GRCm39) I215T probably damaging Het
Med13 T C 11: 86,189,984 (GRCm39) Y975C probably damaging Het
Meioc T A 11: 102,566,419 (GRCm39) Y678* probably null Het
Myof T C 19: 37,924,818 (GRCm39) T1190A probably benign Het
Nap1l4 A C 7: 143,088,132 (GRCm39) probably benign Het
Ncapg T C 5: 45,851,195 (GRCm39) V796A probably damaging Het
Or4c10b C T 2: 89,711,956 (GRCm39) T262I probably benign Het
Or4c119 C T 2: 88,986,782 (GRCm39) V246M possibly damaging Het
Or5d39 T A 2: 87,979,614 (GRCm39) I250L probably benign Het
Or5d40 T A 2: 88,015,260 (GRCm39) V13E possibly damaging Het
Or5p68 T C 7: 107,945,645 (GRCm39) Y181C probably benign Het
Paxbp1 A G 16: 90,824,188 (GRCm39) S515P probably benign Het
Pip4p1 A G 14: 51,165,436 (GRCm39) V257A probably benign Het
Plce1 C T 19: 38,717,414 (GRCm39) S1401F probably damaging Het
Rptor A G 11: 119,777,964 (GRCm39) K1043E probably benign Het
Rtn4rl2 T G 2: 84,711,039 (GRCm39) N75T probably damaging Het
Slc35f4 A G 14: 49,536,291 (GRCm39) I448T possibly damaging Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,278,612 (GRCm39) probably benign Het
Tas2r115 A G 6: 132,714,918 (GRCm39) I11T possibly damaging Het
Tbc1d5 A G 17: 51,181,680 (GRCm39) V351A possibly damaging Het
Trim43b A T 9: 88,971,570 (GRCm39) D195E probably benign Het
Trim65 C A 11: 116,021,564 (GRCm39) A90S probably benign Het
Trip11 C T 12: 101,850,765 (GRCm39) V1100I possibly damaging Het
Tyrp1 A G 4: 80,759,012 (GRCm39) E295G probably null Het
Other mutations in Ube2g2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03348:Ube2g2 APN 10 77,466,711 (GRCm39) missense probably benign 0.05
R0180:Ube2g2 UTSW 10 77,466,573 (GRCm39) missense possibly damaging 0.87
R5299:Ube2g2 UTSW 10 77,480,379 (GRCm39) missense possibly damaging 0.92
R6077:Ube2g2 UTSW 10 77,458,139 (GRCm39) unclassified probably benign
R6454:Ube2g2 UTSW 10 77,470,580 (GRCm39) intron probably benign
R7831:Ube2g2 UTSW 10 77,470,576 (GRCm39) missense
R9004:Ube2g2 UTSW 10 77,479,434 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- CTCCGCTGATGTGTGAGGAC -3'
(R):5'- TGATCTAGGGAGCTGCCTGG -3'

Sequencing Primer
(F):5'- TGCAGTGTCTGGGGAAGCAC -3'
(R):5'- CCTGGCTTGGGTGGAAAG -3'
Posted On 2022-11-14