Incidental Mutation 'IGL03348:Ube2g2'
ID 419546
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube2g2
Ensembl Gene ENSMUSG00000009293
Gene Name ubiquitin-conjugating enzyme E2G 2
Synonyms UBC7, D10Xrf369, 1110003O05Rik, Ubc7p
Accession Numbers
Essential gene? Possibly essential (E-score: 0.724) question?
Stock # IGL03348
Quality Score
Status
Chromosome 10
Chromosomal Location 77458155-77481824 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 77466711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 36 (E36D)
Ref Sequence ENSEMBL: ENSMUSP00000134208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172813] [ENSMUST00000174113] [ENSMUST00000174510] [ENSMUST00000174546]
AlphaFold P60605
Predicted Effect unknown
Transcript: ENSMUST00000172772
AA Change: E34D
SMART Domains Protein: ENSMUSP00000134397
Gene: ENSMUSG00000009293
AA Change: E34D

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
SMART Domains Protein: ENSMUSP00000134670
Gene: ENSMUSG00000009293

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: E36D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000133515
Gene: ENSMUSG00000009293
AA Change: E36D

DomainStartEndE-ValueType
UBCc 7 164 1.33e-64 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174546
AA Change: E36D

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
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. 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330008L17Rik A C 8: 100,148,324 (GRCm39) noncoding transcript Het
Actmap T G 7: 26,896,545 (GRCm39) probably null Het
Adgrv1 T C 13: 81,647,177 (GRCm39) N3121S possibly damaging Het
Aldh16a1 C T 7: 44,791,399 (GRCm39) R102Q possibly damaging Het
Atp9b A T 18: 80,879,637 (GRCm39) I346K possibly damaging Het
Baiap2l1 T C 5: 144,215,341 (GRCm39) K388R probably benign Het
Cfap65 A C 1: 74,966,778 (GRCm39) I303S probably damaging Het
Chd5 C T 4: 152,461,142 (GRCm39) P1244L probably damaging Het
Col12a1 A G 9: 79,600,712 (GRCm39) S791P possibly damaging Het
Ctsz T A 2: 174,270,490 (GRCm39) I231F probably damaging Het
Dnah8 A G 17: 30,965,960 (GRCm39) T2431A probably damaging Het
Eif4b T C 15: 102,001,466 (GRCm39) probably benign Het
Epha4 T C 1: 77,483,809 (GRCm39) I67V possibly damaging Het
Exoc1 T A 5: 76,683,440 (GRCm39) V55D probably damaging Het
Exosc8 A T 3: 54,640,143 (GRCm39) D72E possibly damaging Het
F5 C T 1: 164,021,721 (GRCm39) P1399S possibly damaging Het
Fmo1 T A 1: 162,677,720 (GRCm39) N132I possibly damaging Het
Fndc1 T A 17: 7,991,479 (GRCm39) H739L unknown Het
Glb1l2 T C 9: 26,676,976 (GRCm39) D415G probably benign Het
Gphn T A 12: 78,673,893 (GRCm39) H498Q probably damaging Het
Lrrc56 A G 7: 140,787,153 (GRCm39) N342S probably benign Het
Mbnl3 G A X: 50,253,425 (GRCm39) T16I probably damaging Het
Mrps5 T G 2: 127,443,305 (GRCm39) H294Q probably damaging Het
Neu4 A G 1: 93,952,696 (GRCm39) Y355C possibly damaging Het
Obscn A T 11: 58,941,188 (GRCm39) D5105E probably damaging Het
Or4ac1-ps1 T C 2: 88,370,485 (GRCm39) noncoding transcript Het
Or4f56 C A 2: 111,703,493 (GRCm39) A236S probably damaging Het
Or4k15b A G 14: 50,272,212 (GRCm39) I216T probably benign Het
Or5p73 A G 7: 108,064,615 (GRCm39) D28G probably benign Het
Parp1 T A 1: 180,405,272 (GRCm39) probably benign Het
Plac1 A T X: 52,159,517 (GRCm39) N64K probably damaging Het
Plcd1 C A 9: 118,901,558 (GRCm39) K655N possibly damaging Het
Psme4 T C 11: 30,826,796 (GRCm39) S1772P probably damaging Het
Shcbp1 C T 8: 4,815,089 (GRCm39) V130I probably benign Het
Slc25a11 T C 11: 70,536,170 (GRCm39) probably benign Het
Svep1 C T 4: 58,113,635 (GRCm39) G1004E probably damaging Het
Tars2 T C 3: 95,647,580 (GRCm39) probably null Het
Tbc1d12 C T 19: 38,905,064 (GRCm39) T593I probably damaging Het
Tcerg1l T A 7: 137,815,100 (GRCm39) E526D probably damaging Het
Tmcc3 G A 10: 94,414,942 (GRCm39) V215M possibly damaging Het
Trappc8 T C 18: 20,985,838 (GRCm39) D601G probably damaging Het
Trp53bp2 T A 1: 182,281,313 (GRCm39) N971K probably damaging Het
Uggt2 T A 14: 119,308,300 (GRCm39) R360S probably benign Het
Utp20 A G 10: 88,594,179 (GRCm39) V2182A probably benign Het
Other mutations in Ube2g2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9751:Ube2g2 UTSW 10 77,480,307 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02