Incidental Mutation 'IGL02057:Ube2v2'
ID 185275
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube2v2
Ensembl Gene ENSMUSG00000022674
Gene Name ubiquitin-conjugating enzyme E2 variant 2
Synonyms 4632410D19Rik, 5730524P06Rik, MMS2, 1110021H13Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.713) question?
Stock # IGL02057
Quality Score
Status
Chromosome 16
Chromosomal Location 15368850-15412382 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15394922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 83 (V83A)
Ref Sequence ENSEMBL: ENSMUSP00000111443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096234] [ENSMUST00000115776] [ENSMUST00000115777] [ENSMUST00000118236] [ENSMUST00000229859]
AlphaFold Q9D2M8
Predicted Effect probably benign
Transcript: ENSMUST00000096234
AA Change: V43A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000093951
Gene: ENSMUSG00000022674
AA Change: V43A

DomainStartEndE-ValueType
UBCc 2 105 1.06e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115776
SMART Domains Protein: ENSMUSP00000111442
Gene: ENSMUSG00000022674

DomainStartEndE-ValueType
PDB:1J7D|A 1 103 1e-63 PDB
SCOP:d1jatb_ 8 101 2e-31 SMART
Blast:UBCc 13 103 1e-53 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000115777
AA Change: V83A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000111443
Gene: ENSMUSG00000022674
AA Change: V83A

DomainStartEndE-ValueType
UBCc 13 145 7.83e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118236
SMART Domains Protein: ENSMUSP00000112802
Gene: ENSMUSG00000022674

DomainStartEndE-ValueType
Blast:UBCc 1 61 2e-32 BLAST
SCOP:d1jatb_ 1 61 9e-9 SMART
PDB:1J7D|A 1 63 2e-32 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000229859
AA Change: V43A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ubiquitin-conjugating enzyme E2 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 also shares homology with ubiquitin-conjugating enzyme E2 variant 1 and yeast MMS2 gene product. It may be involved in the differentiation of monocytes and enterocytes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,328,072 (GRCm39) N369S probably damaging Het
Atp13a3 C T 16: 30,151,182 (GRCm39) A1043T probably benign Het
AY358078 G A 14: 52,057,762 (GRCm39) V287I unknown Het
Cemip T C 7: 83,636,661 (GRCm39) E324G probably damaging Het
Ckap5 T A 2: 91,431,052 (GRCm39) D1487E possibly damaging Het
Dscam G A 16: 96,517,273 (GRCm39) Q879* probably null Het
Eci2 A G 13: 35,174,759 (GRCm39) L50P probably damaging Het
Erp44 A T 4: 48,236,964 (GRCm39) H65Q probably benign Het
Fahd1 A T 17: 25,068,570 (GRCm39) I169N probably damaging Het
Galm T C 17: 80,488,996 (GRCm39) I214T probably benign Het
Gipc3 T A 10: 81,178,968 (GRCm39) N42Y probably damaging Het
H2-Eb2 A T 17: 34,554,741 (GRCm39) probably benign Het
Itgb3 A T 11: 104,523,174 (GRCm39) I113F probably damaging Het
Lef1 T G 3: 130,994,051 (GRCm39) Y342* probably null Het
Lilrb4a G A 10: 51,368,103 (GRCm39) D168N possibly damaging Het
Or51b6b T A 7: 103,309,860 (GRCm39) Y199F probably damaging Het
Or5m10 T A 2: 85,717,275 (GRCm39) F44I probably benign Het
Orc1 T G 4: 108,445,926 (GRCm39) S15A possibly damaging Het
Pdk2 C T 11: 94,919,324 (GRCm39) G317D probably benign Het
Rab37 T C 11: 115,051,543 (GRCm39) S217P probably benign Het
Rere C T 4: 150,699,289 (GRCm39) probably benign Het
Scn11a C T 9: 119,594,536 (GRCm39) G1286S probably damaging Het
Sirt1 A G 10: 63,160,982 (GRCm39) S357P probably damaging Het
Smpdl3b T A 4: 132,461,024 (GRCm39) E351V probably benign Het
Sox6 C A 7: 115,149,310 (GRCm39) G355W probably damaging Het
Spopfm2 T A 3: 94,083,662 (GRCm39) S50C probably damaging Het
Srpk2 G T 5: 23,723,705 (GRCm39) A502E probably damaging Het
Trim67 G A 8: 125,549,869 (GRCm39) V500I probably benign Het
Usp43 A T 11: 67,747,113 (GRCm39) S865T probably benign Het
Vdac1 G A 11: 52,267,371 (GRCm39) probably null Het
Vmn2r69 T A 7: 85,060,990 (GRCm39) H198L possibly damaging Het
Vmn2r93 T C 17: 18,546,032 (GRCm39) C635R probably damaging Het
Other mutations in Ube2v2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02884:Ube2v2 APN 16 15,374,349 (GRCm39) missense probably benign 0.00
R5573:Ube2v2 UTSW 16 15,374,343 (GRCm39) missense possibly damaging 0.94
R5978:Ube2v2 UTSW 16 15,394,991 (GRCm39) missense probably benign 0.19
R7159:Ube2v2 UTSW 16 15,398,948 (GRCm39) missense probably benign 0.00
R7677:Ube2v2 UTSW 16 15,398,964 (GRCm39) missense probably benign
R8354:Ube2v2 UTSW 16 15,399,005 (GRCm39) missense possibly damaging 0.49
R9722:Ube2v2 UTSW 16 15,394,899 (GRCm39) missense probably benign
Posted On 2014-05-07