Incidental Mutation 'R1219:Ube2v1'
ID 99889
Institutional Source Beutler Lab
Gene Symbol Ube2v1
Ensembl Gene ENSMUSG00000078923
Gene Name ubiquitin-conjugating enzyme E2 variant 1
Synonyms D7Bwg1382e, CROC1, 0610011J09Rik
MMRRC Submission 039288-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.855) question?
Stock # R1219 (G1)
Quality Score 217
Status Validated
Chromosome 2
Chromosomal Location 167449559-167473933 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 167459831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 56 (D56G)
Ref Sequence ENSEMBL: ENSMUSP00000114764 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060645] [ENSMUST00000109207] [ENSMUST00000125544] [ENSMUST00000140216] [ENSMUST00000151365]
AlphaFold Q9CZY3
Predicted Effect probably benign
Transcript: ENSMUST00000060645
AA Change: D30G

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000053109
Gene: ENSMUSG00000078923
AA Change: D30G

DomainStartEndE-ValueType
PDB:2C2V|L 7 105 7e-59 PDB
SCOP:d1jatb_ 10 103 4e-31 SMART
Blast:UBCc 15 105 1e-54 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000109207
AA Change: D30G

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000104830
Gene: ENSMUSG00000078923
AA Change: D30G

DomainStartEndE-ValueType
UBCc 15 147 1.53e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125544
AA Change: D254G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000118416
Gene: ENSMUSG00000089739
AA Change: D254G

DomainStartEndE-ValueType
transmembrane domain 47 69 N/A INTRINSIC
low complexity region 76 88 N/A INTRINSIC
UBCc 239 371 1.53e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130284
Predicted Effect probably benign
Transcript: ENSMUST00000140216
AA Change: D57G

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000116578
Gene: ENSMUSG00000078923
AA Change: D57G

DomainStartEndE-ValueType
UBCc 42 125 6.78e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144830
Predicted Effect probably benign
Transcript: ENSMUST00000151365
AA Change: D56G

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114764
Gene: ENSMUSG00000078923
AA Change: D56G

DomainStartEndE-ValueType
UBCc 41 173 1.53e-14 SMART
Meta Mutation Damage Score 0.4461 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 98% (44/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene is located in the nucleus and can cause transcriptional activation of the human FOS proto-oncogene. It is thought to be involved in the control of differentiation by altering cell cycle behavior. Alternatively spliced transcript variants encoding multiple isoforms have been described for this gene, and multiple pseudogenes of this gene have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (Kua-UEV), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Apr 2012]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atad2 A G 15: 57,998,307 (GRCm39) S22P probably benign Het
Atrn A T 2: 130,862,927 (GRCm39) T1336S possibly damaging Het
Bltp1 T A 3: 37,000,619 (GRCm39) L1266* probably null Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Ccdc113 T C 8: 96,264,895 (GRCm39) probably benign Het
Ccdc158 A G 5: 92,802,040 (GRCm39) probably benign Het
Ciao3 T C 17: 25,994,075 (GRCm39) I41T probably damaging Het
Dcun1d3 G T 7: 119,458,631 (GRCm39) Q135K probably damaging Het
Dnah7b A C 1: 46,379,280 (GRCm39) E3671D probably benign Het
Eea1 A G 10: 95,846,623 (GRCm39) probably benign Het
Entrep3 T C 3: 89,091,155 (GRCm39) V42A probably damaging Het
Gdf10 G A 14: 33,654,710 (GRCm39) A406T probably benign Het
Gm5111 A G 6: 48,567,328 (GRCm39) probably benign Het
Golga3 G T 5: 110,332,215 (GRCm39) E50* probably null Het
Junb T C 8: 85,704,268 (GRCm39) E264G probably damaging Het
Kash5 A G 7: 44,838,832 (GRCm39) probably benign Het
Kifc1 G A 17: 34,103,685 (GRCm39) R195C probably benign Het
Krt18 T C 15: 101,939,723 (GRCm39) probably benign Het
Man1a G A 10: 53,795,249 (GRCm39) probably benign Het
Mapkbp1 G T 2: 119,849,831 (GRCm39) G768* probably null Het
Mybpc2 A C 7: 44,165,458 (GRCm39) probably null Het
Nectin3 A T 16: 46,275,042 (GRCm39) C238* probably null Het
Ntf3 G T 6: 126,079,174 (GRCm39) R98S possibly damaging Het
Nup153 T G 13: 46,840,695 (GRCm39) Q971P probably benign Het
Nup155 A G 15: 8,146,822 (GRCm39) T221A possibly damaging Het
Ppp2r1b T C 9: 50,778,621 (GRCm39) probably benign Het
Prkd1 A T 12: 50,435,125 (GRCm39) V534E probably damaging Het
Rabep2 A G 7: 126,028,799 (GRCm39) E26G probably damaging Het
Rnf213 C A 11: 119,327,003 (GRCm39) N1663K probably damaging Het
Slc1a1 G A 19: 28,882,146 (GRCm39) probably benign Het
Slc36a4 T C 9: 15,634,832 (GRCm39) Y125H probably damaging Het
Slc6a11 G A 6: 114,202,772 (GRCm39) probably benign Het
Stab1 C T 14: 30,862,578 (GRCm39) probably null Het
Sumf2 G T 5: 129,883,613 (GRCm39) A164S probably benign Het
Sv2b T C 7: 74,786,160 (GRCm39) D420G probably benign Het
Ung A G 5: 114,270,228 (GRCm39) probably benign Het
Vcan T C 13: 89,828,023 (GRCm39) Y2181C probably damaging Het
Vmn1r238 G A 18: 3,123,135 (GRCm39) T93I possibly damaging Het
Vmn2r14 A C 5: 109,372,440 (GRCm39) S17A probably benign Het
Vmn2r25 A G 6: 123,816,282 (GRCm39) V433A probably benign Het
Zfp36l2 A G 17: 84,495,070 (GRCm39) probably null Het
Zfp646 G A 7: 127,482,292 (GRCm39) G1490S probably benign Het
Zfp839 A G 12: 110,834,707 (GRCm39) D654G possibly damaging Het
Other mutations in Ube2v1
AlleleSourceChrCoordTypePredicted EffectPPH Score
ANU74:Ube2v1 UTSW 2 167,452,264 (GRCm39) missense probably damaging 1.00
R2862:Ube2v1 UTSW 2 167,459,885 (GRCm39) missense probably damaging 1.00
R2971:Ube2v1 UTSW 2 167,452,256 (GRCm39) missense probably damaging 1.00
R4666:Ube2v1 UTSW 2 167,452,297 (GRCm39) missense probably damaging 1.00
R4894:Ube2v1 UTSW 2 167,452,280 (GRCm39) missense probably damaging 0.99
R6150:Ube2v1 UTSW 2 167,459,874 (GRCm39) nonsense probably null
R7260:Ube2v1 UTSW 2 167,471,114 (GRCm39) missense probably benign 0.02
R7356:Ube2v1 UTSW 2 167,451,115 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- AGCAAACACCTCTGGTGAGTGTCTG -3'
(R):5'- TTGCGTGAAAGGAAGTGCCGTGTC -3'

Sequencing Primer
(F):5'- TGAGTGTCTGCCAACTGC -3'
(R):5'- TCTCAGCCAGTGCTCAGAG -3'
Posted On 2014-01-15