Incidental Mutation 'R2862:Ube2v1'
ID 252901
Institutional Source Beutler Lab
Gene Symbol Ube2v1
Ensembl Gene ENSMUSG00000078923
Gene Name ubiquitin-conjugating enzyme E2 variant 1
Synonyms D7Bwg1382e, CROC1, 0610011J09Rik
MMRRC Submission 040452-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.855) question?
Stock # R2862 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 167449559-167473933 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 167459885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 39 (P39L)
Ref Sequence ENSEMBL: ENSMUSP00000116578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060645] [ENSMUST00000109207] [ENSMUST00000125544] [ENSMUST00000140216] [ENSMUST00000151365]
AlphaFold Q9CZY3
Predicted Effect probably benign
Transcript: ENSMUST00000060645
AA Change: P12L

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000053109
Gene: ENSMUSG00000078923
AA Change: P12L

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: P12L

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000104830
Gene: ENSMUSG00000078923
AA Change: P12L

DomainStartEndE-ValueType
UBCc 15 147 1.53e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000125544
AA Change: P236L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118416
Gene: ENSMUSG00000089739
AA Change: P236L

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 damaging
Transcript: ENSMUST00000140216
AA Change: P39L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116578
Gene: ENSMUSG00000078923
AA Change: P39L

DomainStartEndE-ValueType
UBCc 42 125 6.78e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144830
Predicted Effect probably benign
Transcript: ENSMUST00000151365
AA Change: P38L

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000114764
Gene: ENSMUSG00000078923
AA Change: P38L

DomainStartEndE-ValueType
UBCc 41 173 1.53e-14 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,259,057 (GRCm39) S2928G probably damaging Het
Abcd1 T A X: 72,781,064 (GRCm39) L713H probably damaging Het
Actg1 T C 11: 120,237,627 (GRCm39) I52V probably benign Het
Ahi1 T A 10: 20,857,307 (GRCm39) V634E probably damaging Het
Ang G T 14: 51,339,275 (GRCm39) D139Y probably damaging Het
Apoe T C 7: 19,431,479 (GRCm39) Y46C probably damaging Het
Aqr A T 2: 113,967,398 (GRCm39) V539D probably damaging Het
Btg3 A G 16: 78,161,868 (GRCm39) V114A probably damaging Het
Cap1 A T 4: 122,758,518 (GRCm39) S221T probably benign Het
Ccdc121 G A 5: 31,643,255 (GRCm39) probably benign Het
Cdca2 T C 14: 67,935,539 (GRCm39) E392G probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col22a1 A G 15: 71,687,792 (GRCm39) probably null Het
Cyp2c38 G A 19: 39,449,138 (GRCm39) R72W probably benign Het
Dnah1 C T 14: 31,006,719 (GRCm39) G2199S probably benign Het
Dnhd1 A G 7: 105,361,766 (GRCm39) E3608G probably benign Het
Ears2 A T 7: 121,662,163 (GRCm39) L95Q probably damaging Het
F5 A T 1: 164,012,533 (GRCm39) K482N probably damaging Het
Gata5 C T 2: 179,976,129 (GRCm39) G12S possibly damaging Het
Gm11938 C A 11: 99,493,972 (GRCm39) R41L probably damaging Het
Grap2 A T 15: 80,532,165 (GRCm39) Q260L probably damaging Het
Greb1 A G 12: 16,761,746 (GRCm39) S545P probably benign Het
Iglc1 T C 16: 18,880,660 (GRCm39) probably benign Het
Il18r1 T C 1: 40,537,717 (GRCm39) V494A possibly damaging Het
Kdf1 G A 4: 133,255,852 (GRCm39) E190K probably damaging Het
Lama2 G A 10: 27,298,608 (GRCm39) Q163* probably null Het
Lama3 G T 18: 12,586,807 (GRCm39) L723F probably damaging Het
Lamp5 A T 2: 135,900,866 (GRCm39) H22L probably benign Het
Maged1 G A X: 93,582,530 (GRCm39) P366S probably damaging Het
Med14 A G X: 12,585,936 (GRCm39) I521T probably benign Het
Mia2 A G 12: 59,201,196 (GRCm39) K841E probably damaging Het
Mrgbp G A 2: 180,225,203 (GRCm39) R53Q possibly damaging Het
Mrps18b G A 17: 36,221,746 (GRCm39) S101L probably benign Het
Nmnat2 G A 1: 152,988,171 (GRCm39) V267I probably benign Het
Noc2l A G 4: 156,321,907 (GRCm39) D102G probably benign Het
Ntn1 T C 11: 68,276,690 (GRCm39) E86G probably benign Het
Opn4 A G 14: 34,315,785 (GRCm39) probably null Het
Or2d2b T A 7: 106,705,675 (GRCm39) H131L probably benign Het
Or4c109 A T 2: 88,817,664 (GRCm39) I294K probably benign Het
Or52n1 A G 7: 104,383,425 (GRCm39) F49L probably benign Het
Or6k6 A G 1: 173,945,298 (GRCm39) Y95H probably damaging Het
Pate3 T A 9: 35,559,415 (GRCm39) M1L possibly damaging Het
Pex2 A G 3: 5,626,240 (GRCm39) Y190H probably damaging Het
Pkhd1l1 A C 15: 44,404,267 (GRCm39) T2299P probably damaging Het
Ppp6r3 A C 19: 3,571,782 (GRCm39) S122R possibly damaging Het
Pwwp3b G A X: 138,137,429 (GRCm39) G656S possibly damaging Het
Rnf113a1 A G X: 36,455,736 (GRCm39) E231G probably damaging Het
Rnf41 T C 10: 128,274,023 (GRCm39) L225P possibly damaging Het
Rreb1 G C 13: 38,116,429 (GRCm39) A1263P probably benign Het
Rxfp1 A G 3: 79,589,778 (GRCm39) V121A possibly damaging Het
Slc35e4 A T 11: 3,862,796 (GRCm39) V131D probably damaging Het
Smyd4 T A 11: 75,280,962 (GRCm39) M145K probably benign Het
Snx13 T A 12: 35,188,116 (GRCm39) I798N probably benign Het
Srgap3 A T 6: 112,699,933 (GRCm39) F1015Y probably damaging Het
Synj1 T C 16: 90,766,217 (GRCm39) Y567C probably damaging Het
Tbc1d8 G A 1: 39,441,777 (GRCm39) Q272* probably null Het
Tinf2 T C 14: 55,918,088 (GRCm39) D127G probably damaging Het
Vegfd A G X: 163,168,879 (GRCm39) E57G probably damaging Het
Vmn2r72 A T 7: 85,400,044 (GRCm39) I335N probably damaging Het
Zc3h6 A G 2: 128,857,380 (GRCm39) H633R probably benign Het
Other mutations in Ube2v1
AlleleSourceChrCoordTypePredicted EffectPPH Score
ANU74:Ube2v1 UTSW 2 167,452,264 (GRCm39) missense probably damaging 1.00
R1219:Ube2v1 UTSW 2 167,459,831 (GRCm39) missense probably benign 0.20
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'- TCGATGACAGTGACAGCTGG -3'
(R):5'- TTGGCATTCCTCTCAGCCAG -3'

Sequencing Primer
(F):5'- TACTCGTGGAGGTCCAAT -3'
(R):5'- CTAAACGGGGTGGGGCAC -3'
Posted On 2014-12-04