Incidental Mutation 'R0408:Ube2g1'
ID 40118
Institutional Source Beutler Lab
Gene Symbol Ube2g1
Ensembl Gene ENSMUSG00000020794
Gene Name ubiquitin-conjugating enzyme E2G 1
Synonyms D130023C12Rik, 2700059C12Rik
MMRRC Submission 038610-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0408 (G1)
Quality Score 178
Status Not validated
Chromosome 11
Chromosomal Location 72498109-72577307 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 72563791 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Alanine at position 52 (G52A)
Ref Sequence ENSEMBL: ENSMUSP00000021148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021148] [ENSMUST00000138247]
AlphaFold P62254
Predicted Effect probably damaging
Transcript: ENSMUST00000021148
AA Change: G52A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021148
Gene: ENSMUSG00000020794
AA Change: G52A

DomainStartEndE-ValueType
UBCc 8 166 2.54e-70 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126046
Predicted Effect probably benign
Transcript: ENSMUST00000138247
SMART Domains Protein: ENSMUSP00000117588
Gene: ENSMUSG00000020794

DomainStartEndE-ValueType
UBCc 1 95 6.89e-8 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.7%
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 and catalyzes the covalent attachment of ubiquitin to other proteins. The protein may be involved in degradation of muscle-specific proteins. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T A 5: 8,903,446 (GRCm39) N1032K probably damaging Het
Abcc8 A G 7: 45,756,457 (GRCm39) I1416T probably damaging Het
Aco2 T C 15: 81,797,319 (GRCm39) probably null Het
Akap13 C T 7: 75,396,544 (GRCm39) L2514F probably damaging Het
Aldh1a3 A G 7: 66,055,798 (GRCm39) V331A probably damaging Het
Arid3a T A 10: 79,786,667 (GRCm39) D473E probably benign Het
Atg9a A G 1: 75,161,939 (GRCm39) S536P probably damaging Het
Atxn7 A T 14: 14,100,317 (GRCm38) S668C probably damaging Het
Bcar3 A T 3: 122,302,033 (GRCm39) I243F probably damaging Het
Bend6 G A 1: 33,901,834 (GRCm39) P183S probably damaging Het
Bfsp2 A T 9: 103,357,299 (GRCm39) S43T probably benign Het
Camk4 G A 18: 33,262,845 (GRCm39) D136N probably damaging Het
Ceacam3 G T 7: 16,885,808 (GRCm39) probably benign Het
Chrm3 T C 13: 9,927,969 (GRCm39) I356V probably benign Het
Clec9a T A 6: 129,396,532 (GRCm39) I133N possibly damaging Het
Ctnnd2 T C 15: 30,634,823 (GRCm39) L157P probably damaging Het
Ddhd2 T C 8: 26,229,614 (GRCm39) probably null Het
Def8 T C 8: 124,186,656 (GRCm39) V436A probably damaging Het
Dipk1c T A 18: 84,738,488 (GRCm39) probably null Het
Dock10 T C 1: 80,518,193 (GRCm39) K1293R probably benign Het
Dync1h1 T G 12: 110,598,126 (GRCm39) D1772E probably benign Het
Ephx4 G T 5: 107,561,387 (GRCm39) G72C probably damaging Het
Fam136a T G 6: 86,343,707 (GRCm39) V68G possibly damaging Het
Fcgrt T C 7: 44,751,363 (GRCm39) E195G probably damaging Het
Fut9 T A 4: 25,620,319 (GRCm39) Q165L possibly damaging Het
Glb1l T C 1: 75,185,479 (GRCm39) Y77C probably damaging Het
Gpr26 T C 7: 131,569,249 (GRCm39) V198A possibly damaging Het
Gpr26 C A 7: 131,576,001 (GRCm39) probably null Het
Gsdma3 A C 11: 98,526,164 (GRCm39) E296A probably benign Het
Hyou1 G T 9: 44,295,989 (GRCm39) G385W probably damaging Het
Il17rb T C 14: 29,718,637 (GRCm39) S482G probably benign Het
Itgb4 A T 11: 115,898,428 (GRCm39) R1715W probably damaging Het
Jak2 A G 19: 29,263,717 (GRCm39) S411G probably benign Het
Kdm3a C T 6: 71,588,663 (GRCm39) D449N probably benign Het
Kifbp T C 10: 62,401,832 (GRCm39) I23M probably benign Het
Klhl26 T C 8: 70,905,130 (GRCm39) D226G probably damaging Het
Klra1 T A 6: 130,354,737 (GRCm39) I94F probably benign Het
Lama3 A G 18: 12,589,894 (GRCm39) D808G probably benign Het
Lrp1b C T 2: 40,567,603 (GRCm39) M272I probably damaging Het
Masp2 A G 4: 148,690,496 (GRCm39) D251G probably benign Het
Mob3b T C 4: 35,083,991 (GRCm39) D66G probably damaging Het
Myo7a T C 7: 97,705,988 (GRCm39) Q1863R probably damaging Het
Naa12 T C 18: 80,255,029 (GRCm39) S108P probably damaging Het
Or10al3 G A 17: 38,012,190 (GRCm39) V210I probably benign Het
Or4c103 A T 2: 88,513,999 (GRCm39) F26I probably benign Het
Pdgfd T A 9: 6,293,928 (GRCm39) Y167* probably null Het
Pfas A G 11: 68,891,931 (GRCm39) probably null Het
Plin1 T A 7: 79,372,394 (GRCm39) T393S probably damaging Het
Prdm15 A T 16: 97,636,986 (GRCm39) N110K possibly damaging Het
Prune2 T A 19: 17,099,674 (GRCm39) V1726D probably benign Het
Sestd1 T A 2: 77,022,137 (GRCm39) D518V probably damaging Het
Setd2 C T 9: 110,423,310 (GRCm39) P344S probably damaging Het
Slc22a1 A T 17: 12,875,828 (GRCm39) I462N probably damaging Het
Slc6a1 G A 6: 114,279,761 (GRCm39) V142I probably benign Het
Tbc1d14 G T 5: 36,728,643 (GRCm39) T241K possibly damaging Het
Uaca T C 9: 60,779,141 (GRCm39) L1176P possibly damaging Het
Utrn A G 10: 12,259,934 (GRCm39) *957R probably null Het
Vmn2r125 A T 4: 156,703,153 (GRCm39) E177V probably damaging Het
Vmn2r86 A G 10: 130,282,723 (GRCm39) F631S probably damaging Het
Zc3h13 T A 14: 75,529,626 (GRCm39) C42* probably null Het
Zc3h14 T G 12: 98,730,082 (GRCm39) V13G probably damaging Het
Zfat A T 15: 68,052,141 (GRCm39) V551D probably benign Het
Zfp618 C T 4: 63,004,809 (GRCm39) R70W probably damaging Het
Other mutations in Ube2g1
AlleleSourceChrCoordTypePredicted EffectPPH Score
Amore UTSW 11 72,553,943 (GRCm39) start gained probably benign
oboe UTSW 11 72,568,591 (GRCm39) missense probably benign 0.04
R6360:Ube2g1 UTSW 11 72,553,908 (GRCm39) missense probably damaging 0.97
R7270:Ube2g1 UTSW 11 72,553,939 (GRCm39) missense possibly damaging 0.59
R8065:Ube2g1 UTSW 11 72,568,591 (GRCm39) missense probably benign 0.04
R9375:Ube2g1 UTSW 11 72,553,943 (GRCm39) start gained probably benign
R9749:Ube2g1 UTSW 11 72,570,199 (GRCm39) missense probably benign 0.27
Predicted Primers PCR Primer
(F):5'- TGTGGCAATCTGATCCCAGAGAGG -3'
(R):5'- TGGCTGTGCATGTGAACACTGAC -3'

Sequencing Primer
(F):5'- ATCACCAGTGATCTGATCTGGAC -3'
(R):5'- GAGTCAATTACGAGACCATATGC -3'
Posted On 2013-05-23