Incidental Mutation 'R9004:Ube2g2'
ID 685154
Institutional Source Beutler Lab
Gene Symbol Ube2g2
Ensembl Gene ENSMUSG00000009293
Gene Name ubiquitin-conjugating enzyme E2G 2
Synonyms UBC7, D10Xrf369, 1110003O05Rik, Ubc7p
MMRRC Submission 068834-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.724) question?
Stock # R9004 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 77458155-77481824 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 77479434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 126 (M126L)
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: M56L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000134670
Gene: ENSMUSG00000009293
AA Change: M56L

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: M126L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000133515
Gene: ENSMUSG00000009293
AA Change: M126L

DomainStartEndE-ValueType
UBCc 7 164 1.33e-64 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174546
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.3%
Validation Efficiency 100% (69/69)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,454,197 (GRCm39) probably benign Het
2310057N15Rik C A 16: 88,570,986 (GRCm39) C18F probably damaging Het
Abca7 T A 10: 79,841,483 (GRCm39) M941K probably damaging Het
Abcd2 A G 15: 91,075,051 (GRCm39) I254T probably benign Het
Abcg8 C A 17: 85,004,790 (GRCm39) T519K probably benign Het
Adcy9 A G 16: 4,106,378 (GRCm39) V1149A probably damaging Het
Alg10b A G 15: 90,109,894 (GRCm39) Y69C probably damaging Het
Arhgef10l T C 4: 140,279,921 (GRCm39) D529G probably damaging Het
Ascc3 T A 10: 50,718,276 (GRCm39) C1990S probably benign Het
BC034090 T A 1: 155,102,138 (GRCm39) N42I possibly damaging Het
Bptf G A 11: 106,945,713 (GRCm39) P2509S probably damaging Het
Carmil1 T A 13: 24,225,662 (GRCm39) D1042V probably damaging Het
Ccny A G 18: 9,332,883 (GRCm39) V216A possibly damaging Het
Cdr2 T C 7: 120,557,722 (GRCm39) N268D probably benign Het
Cep152 T C 2: 125,453,020 (GRCm39) S351G probably benign Het
Chrm1 T C 19: 8,655,909 (GRCm39) C205R possibly damaging Het
Dalrd3 C A 9: 108,449,430 (GRCm39) D454E probably benign Het
Dmbt1 T C 7: 130,713,798 (GRCm39) L1622P unknown Het
Eif2s2 A G 2: 154,720,404 (GRCm39) Y172H probably benign Het
Ell T A 8: 71,031,604 (GRCm39) S101T probably damaging Het
Faf1 A G 4: 109,698,550 (GRCm39) T337A probably benign Het
Fhad1 A T 4: 141,649,735 (GRCm39) probably benign Het
Gen1 T C 12: 11,305,022 (GRCm39) probably benign Het
Gfap A G 11: 102,782,268 (GRCm39) I414T probably benign Het
Ginm1 A C 10: 7,651,019 (GRCm39) V129G probably damaging Het
Helq C T 5: 100,926,598 (GRCm39) probably benign Het
Hoxb3 A G 11: 96,237,137 (GRCm39) D405G possibly damaging Het
Hsp90aa1 A G 12: 110,659,045 (GRCm39) V584A probably damaging Het
Iglc2 T C 16: 19,017,425 (GRCm39) K59R probably benign Het
Inhba T C 13: 16,201,526 (GRCm39) S363P probably benign Het
Kif1c A G 11: 70,615,958 (GRCm39) K656E probably benign Het
Mroh4 G T 15: 74,486,171 (GRCm39) L492I possibly damaging Het
Mthfd1 C T 12: 76,350,754 (GRCm39) T712M probably benign Het
Naaladl1 C A 19: 6,155,965 (GRCm39) D46E probably damaging Het
Nbea C T 3: 55,910,359 (GRCm39) V1279I probably benign Het
Nceh1 T A 3: 27,293,726 (GRCm39) D161E possibly damaging Het
Nck2 A T 1: 43,593,510 (GRCm39) N239I Het
Nlrx1 C T 9: 44,167,644 (GRCm39) R751H probably benign Het
Or10ag54 T A 2: 87,099,695 (GRCm39) F190Y possibly damaging Het
Or8b46 A G 9: 38,450,530 (GRCm39) Y113C probably benign Het
Or8g17 C A 9: 38,930,580 (GRCm39) V86L probably benign Het
Oscar A T 7: 3,619,040 (GRCm39) C13S possibly damaging Het
Pappa2 T A 1: 158,763,979 (GRCm39) I511F probably damaging Het
Pappa2 T C 1: 158,764,518 (GRCm39) D331G possibly damaging Het
Pde4c C T 8: 71,199,515 (GRCm39) S265L possibly damaging Het
Pex1 A G 5: 3,662,914 (GRCm39) S502G probably benign Het
Pigl A G 11: 62,403,779 (GRCm39) Y237C probably damaging Het
Pkd1 A T 17: 24,799,421 (GRCm39) Q2880L probably benign Het
Pkhd1l1 A T 15: 44,406,768 (GRCm39) H2335L probably benign Het
Ppp1r17 A G 6: 56,008,513 (GRCm39) E151G probably damaging Het
Ppp1r27 A G 11: 120,441,849 (GRCm39) Y11H probably damaging Het
Prss54 C A 8: 96,292,137 (GRCm39) K147N possibly damaging Het
Ptchd3 T A 11: 121,732,687 (GRCm39) F526I possibly damaging Het
Ptprt T C 2: 161,608,314 (GRCm39) N661D probably benign Het
Rfpl4b T C 10: 38,697,771 (GRCm39) probably benign Het
Sdad1 T C 5: 92,439,820 (GRCm39) T402A probably benign Het
Stk32c T C 7: 138,702,859 (GRCm39) D178G probably damaging Het
Tas2r119 T C 15: 32,178,109 (GRCm39) L225P probably damaging Het
Tdpoz4 A T 3: 93,704,018 (GRCm39) E105V probably benign Het
Tlk1 A G 2: 70,552,290 (GRCm39) I520T probably damaging Het
Tmf1 A G 6: 97,152,738 (GRCm39) V445A probably benign Het
Tomm6 T C 17: 47,998,833 (GRCm39) D40G possibly damaging Het
Traf6 C A 2: 101,520,443 (GRCm39) Q164K probably benign Het
Tspoap1 A G 11: 87,670,284 (GRCm39) H150R Het
Unc45b A G 11: 82,819,515 (GRCm39) D496G probably damaging Het
Vmn1r74 A C 7: 11,580,840 (GRCm39) I47L probably benign Het
Vmn2r88 A T 14: 51,650,624 (GRCm39) L112F Het
Wwc2 A C 8: 48,373,732 (GRCm39) L45V probably damaging Het
Zfp459 A C 13: 67,556,714 (GRCm39) I123R probably damaging 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
R9751:Ube2g2 UTSW 10 77,480,307 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAACTCCTGTCTCAGCTGTG -3'
(R):5'- ATACCCTGCACTGTGACAC -3'

Sequencing Primer
(F):5'- TGTCTCAGCTGTGCGGAC -3'
(R):5'- TGTGACACACAGTGGGGC -3'
Posted On 2021-10-11