Incidental Mutation 'R4894:Ube2v1'
ID377474
Institutional Source Beutler Lab
Gene Symbol Ube2v1
Ensembl Gene ENSMUSG00000078923
Gene Nameubiquitin-conjugating enzyme E2 variant 1
SynonymsD7Bwg1382e, CROC1, 0610011J09Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.829) question?
Stock #R4894 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location167607638-167632095 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 167610360 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 108 (S108P)
Ref Sequence ENSEMBL: ENSMUSP00000116578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060645] [ENSMUST00000109207] [ENSMUST00000125544] [ENSMUST00000140216] [ENSMUST00000151365]
Predicted Effect probably benign
Transcript: ENSMUST00000060645
SMART Domains Protein: ENSMUSP00000053109
Gene: ENSMUSG00000078923

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: S81P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104830
Gene: ENSMUSG00000078923
AA Change: S81P

DomainStartEndE-ValueType
UBCc 15 147 1.53e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125544
AA Change: S305P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000118416
Gene: ENSMUSG00000089739
AA Change: S305P

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: ENSMUST00000127006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130284
Predicted Effect probably damaging
Transcript: ENSMUST00000140216
AA Change: S108P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116578
Gene: ENSMUSG00000078923
AA Change: S108P

DomainStartEndE-ValueType
UBCc 42 125 6.78e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144628
Predicted Effect probably benign
Transcript: ENSMUST00000151365
AA Change: S107P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000114764
Gene: ENSMUSG00000078923
AA Change: S107P

DomainStartEndE-ValueType
UBCc 41 173 1.53e-14 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 C A 17: 43,299,084 Y176* probably null Het
Akap13 T A 7: 75,725,320 M1900K possibly damaging Het
Ankrd36 A G 11: 5,635,332 E381G probably damaging Het
Ap3s1 T C 18: 46,758,116 probably null Het
Cacna1e G T 1: 154,488,805 S341* probably null Het
Camk1d G A 2: 5,354,728 S161L probably damaging Het
Cdh23 G T 10: 60,337,851 H1619Q probably benign Het
Chd7 T A 4: 8,838,629 I1276N probably damaging Het
Clca1 A G 3: 145,013,901 V436A probably damaging Het
Ctcfl G A 2: 173,117,403 P177S probably benign Het
Dab2ip A G 2: 35,730,527 probably benign Het
Dnah8 G A 17: 30,748,568 D2585N probably benign Het
Epc1 A T 18: 6,449,011 S495R probably benign Het
Espl1 A G 15: 102,322,323 probably null Het
Eya4 T C 10: 23,109,854 E583G possibly damaging Het
Fam111a C G 19: 12,588,549 T554R probably benign Het
Fbxo18 A T 2: 11,762,960 I359N probably damaging Het
Fer1l6 T C 15: 58,618,902 C1023R probably damaging Het
Gm14139 T A 2: 150,191,979 C104* probably null Het
Helz2 G C 2: 181,236,147 P953A probably benign Het
Ifi204 G T 1: 173,760,242 S117Y probably damaging Het
Igfn1 G A 1: 135,954,782 T2775M probably damaging Het
Igsf9 A G 1: 172,498,067 T1101A probably benign Het
Ipo13 A C 4: 117,903,441 I614S probably damaging Het
Ipo13 A G 4: 117,904,490 I476T possibly damaging Het
Kdm2b C A 5: 122,940,967 E308* probably null Het
Klhl20 A T 1: 161,109,532 M91K possibly damaging Het
Klrb1f T C 6: 129,053,188 F64L probably benign Het
Ldlrad3 C T 2: 102,057,948 C106Y probably damaging Het
Lilra6 T C 7: 3,912,531 T161A probably benign Het
Lrriq1 A T 10: 103,161,752 M1334K possibly damaging Het
Mepe C G 5: 104,325,402 P3R probably damaging Het
Mgat4e A G 1: 134,541,118 V396A probably benign Het
Nfx1 T G 4: 40,996,877 S651A probably damaging Het
Olfr1214 T C 2: 88,987,439 I254M possibly damaging Het
Olfr1337 A T 4: 118,782,286 C100S probably damaging Het
Olfr1361 T C 13: 21,659,182 N47S probably damaging Het
Rag2 T C 2: 101,629,677 S111P probably damaging Het
Rai1 T A 11: 60,186,746 D545E probably damaging Het
Ralgps1 A G 2: 33,143,103 V498A possibly damaging Het
Rasal2 G A 1: 157,192,804 S205L probably damaging Het
Rec8 T C 14: 55,625,330 L582P probably damaging Het
Retn G A 8: 3,657,358 R106H probably damaging Het
Rnf112 A G 11: 61,452,662 L116P probably damaging Het
Rnf213 T C 11: 119,481,240 Y4885H probably damaging Het
Sacm1l A G 9: 123,582,344 I399M probably benign Het
Sez6 G T 11: 77,975,260 G738V probably damaging Het
Spata17 A G 1: 187,140,446 V56A probably benign Het
Spata31d1a A T 13: 59,701,728 V862D probably damaging Het
Sptb A G 12: 76,624,994 probably null Het
Srpk2 C A 5: 23,545,529 G59W probably damaging Het
Ttc30a1 T C 2: 75,979,744 *665W probably null Het
Tyro3 T C 2: 119,802,298 S96P probably damaging Het
Usp2 C T 9: 44,075,828 S141L probably benign Het
Vamp5 T C 6: 72,370,198 D46G possibly damaging Het
Vmn1r23 T A 6: 57,926,325 Q156L probably benign Het
Vmn2r6 C T 3: 64,547,408 S490N probably benign Het
Vps39 A T 2: 120,352,959 I10N probably damaging Het
Vwf C T 6: 125,645,934 Q1755* probably null Het
Wdfy4 A T 14: 33,155,760 H82Q probably benign Het
Wdr24 T C 17: 25,826,127 Y279H probably damaging Het
Wdr72 A G 9: 74,210,561 T852A probably benign Het
Zfp1 T A 8: 111,669,723 C92* probably null Het
Zfp426 A T 9: 20,475,073 probably benign Het
Zfp442 C T 2: 150,411,210 probably null Het
Zfp74 T C 7: 29,936,045 probably benign Het
Other mutations in Ube2v1
AlleleSourceChrCoordTypePredicted EffectPPH Score
ANU74:Ube2v1 UTSW 2 167610344 missense probably damaging 1.00
R1219:Ube2v1 UTSW 2 167617911 missense probably benign 0.20
R2862:Ube2v1 UTSW 2 167617965 missense probably damaging 1.00
R2971:Ube2v1 UTSW 2 167610336 missense probably damaging 1.00
R4666:Ube2v1 UTSW 2 167610377 missense probably damaging 1.00
R6150:Ube2v1 UTSW 2 167617954 nonsense probably null
R7260:Ube2v1 UTSW 2 167629194 missense probably benign 0.02
R7356:Ube2v1 UTSW 2 167609195 missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- TGCCATGGACACTGAACACTC -3'
(R):5'- TCGGACTCATTGACACTTAACCC -3'

Sequencing Primer
(F):5'- GAACTCACTCTGTAGACTAGGCTG -3'
(R):5'- GTGCTTCCGTCTCTGAGGC -3'
Posted On2016-03-17