Incidental Mutation 'R6299:Ube2m'
Institutional Source Beutler Lab
Gene Symbol Ube2m
Ensembl Gene ENSMUSG00000005575
Gene Nameubiquitin-conjugating enzyme E2M
SynonymsUbc-rs2, UBC12, 2510040H03Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R6299 (G1)
Quality Score225.009
Status Validated
Chromosomal Location13035120-13038275 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 13035870 bp
Amino Acid Change Isoleucine to Arginine at position 116 (I116R)
Ref Sequence ENSEMBL: ENSMUSP00000122638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005705] [ENSMUST00000005711] [ENSMUST00000005714] [ENSMUST00000125964] [ENSMUST00000165394] [ENSMUST00000210587] [ENSMUST00000211344] [ENSMUST00000211369] [ENSMUST00000211626]
Predicted Effect probably benign
Transcript: ENSMUST00000005705
SMART Domains Protein: ENSMUSP00000005705
Gene: ENSMUSG00000005566

low complexity region 2 34 N/A INTRINSIC
low complexity region 37 57 N/A INTRINSIC
RING 66 121 1.2e-7 SMART
BBOX 149 196 2.97e-12 SMART
BBOX 205 246 1.11e-11 SMART
BBC 253 379 7.92e-39 SMART
low complexity region 420 432 N/A INTRINSIC
low complexity region 525 551 N/A INTRINSIC
low complexity region 555 576 N/A INTRINSIC
PHD 627 670 2.16e-9 SMART
RING 628 669 8.32e0 SMART
BROMO 697 801 6.5e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000005711
SMART Domains Protein: ENSMUSP00000005711
Gene: ENSMUSG00000033916

Pfam:Snf7 17 187 9.5e-50 PFAM
coiled coil region 196 222 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000005714
AA Change: I128R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005714
Gene: ENSMUSG00000005575
AA Change: I128R

UBCc 32 173 8.83e-38 SMART
Predicted Effect unknown
Transcript: ENSMUST00000123541
AA Change: I87R
SMART Domains Protein: ENSMUSP00000120234
Gene: ENSMUSG00000005575
AA Change: I87R

UBCc 1 162 2.43e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123778
Predicted Effect probably damaging
Transcript: ENSMUST00000125964
AA Change: I116R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122638
Gene: ENSMUSG00000005575
AA Change: I116R

UBCc 20 161 3.67e-35 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126827
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131837
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156389
SMART Domains Protein: ENSMUSP00000117123
Gene: ENSMUSG00000005575

PDB:2NVU|C 69 138 4e-38 PDB
SCOP:d2e2c__ 83 136 2e-8 SMART
Blast:UBCc 92 138 4e-27 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000165394
AA Change: I31R

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132604
Gene: ENSMUSG00000005575
AA Change: I31R

UBCc 2 76 4.51e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209487
Predicted Effect probably benign
Transcript: ENSMUST00000210587
Predicted Effect probably benign
Transcript: ENSMUST00000211344
Predicted Effect probably benign
Transcript: ENSMUST00000211369
Predicted Effect probably benign
Transcript: ENSMUST00000211626
Meta Mutation Damage Score 0.526 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (61/61)
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. The encoded protein is linked with a ubiquitin-like protein, NEDD8, which can be conjugated to cellular proteins, such as Cdc53/culin. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bms1 G A 6: 118,418,515 R24W probably damaging Het
C130050O18Rik A T 5: 139,414,371 S60C probably damaging Het
Cabcoco1 A G 10: 68,436,890 Y222H probably damaging Het
Cc2d1b T C 4: 108,628,138 V559A probably benign Het
Cgrrf1 T A 14: 46,840,190 N46K probably damaging Het
Clca3a1 T C 3: 144,758,514 D114G probably damaging Het
Clcnkb T A 4: 141,410,723 L279F probably damaging Het
Cr2 T C 1: 195,168,646 T151A probably damaging Het
Creb3l3 C T 10: 81,088,613 E236K probably damaging Het
Dcstamp T A 15: 39,755,203 V336D probably damaging Het
Dopey1 T G 9: 86,504,212 F379V probably damaging Het
Esf1 T C 2: 140,123,634 K714R possibly damaging Het
Exoc3l4 A T 12: 111,422,079 M1L possibly damaging Het
Extl3 T C 14: 65,076,672 R354G probably benign Het
Fastkd3 T C 13: 68,587,736 L535P probably damaging Het
Gab2 A G 7: 97,081,859 T12A probably benign Het
Gm10549 C A 18: 33,464,305 probably benign Het
Golga4 T A 9: 118,557,370 S1187T probably benign Het
Haus3 A G 5: 34,167,796 V173A probably benign Het
Herc2 T A 7: 56,135,055 Y1416N possibly damaging Het
Hspg2 A G 4: 137,544,705 Y2566C probably damaging Het
Inpp5f A T 7: 128,636,160 T34S possibly damaging Het
Iqck G A 7: 118,876,262 G70S unknown Het
Jade1 T C 3: 41,613,725 F743L probably damaging Het
Kif5a T C 10: 127,233,821 K845R probably damaging Het
Klhl30 A G 1: 91,357,914 probably null Het
Map2k1 T C 9: 64,214,490 D67G possibly damaging Het
Mcm9 A C 10: 53,537,681 C434W probably damaging Het
Muc4 T G 16: 32,752,035 S638A possibly damaging Het
Nectin3 A G 16: 46,463,982 V113A probably damaging Het
Nfya T C 17: 48,392,910 probably benign Het
Nup155 G T 15: 8,128,438 A460S possibly damaging Het
Nup210 T C 6: 91,074,288 E371G possibly damaging Het
Olfm3 T C 3: 115,120,983 S228P probably damaging Het
Olfr659 C A 7: 104,670,868 D55E probably benign Het
Olfr916 A T 9: 38,657,777 I205N possibly damaging Het
Plin1 A C 7: 79,721,476 V500G probably benign Het
Ppfia1 A C 7: 144,510,312 M513R probably benign Het
Ppp1cb T A 5: 32,483,454 C27* probably null Het
Prss22 T A 17: 23,996,434 I123F probably damaging Het
Rbm24 G T 13: 46,419,073 V15L probably damaging Het
Reln T C 5: 22,286,944 T97A possibly damaging Het
Sipa1l2 T C 8: 125,453,464 T1065A possibly damaging Het
Sipa1l3 A C 7: 29,366,549 probably null Het
Snrnp200 T A 2: 127,222,161 Y689* probably null Het
Srcap T C 7: 127,530,454 probably benign Het
Sv2a T C 3: 96,188,249 probably null Het
Tcf12 A T 9: 71,858,929 V474D probably damaging Het
Tpcn2 A T 7: 145,262,243 S403T probably damaging Het
Trim65 C A 11: 116,126,551 A362S probably benign Het
Trmt1 T A 8: 84,697,290 C36* probably null Het
Trpm8 T A 1: 88,354,479 L699Q probably damaging Het
Ulk1 T C 5: 110,791,097 K492E possibly damaging Het
Usp40 T A 1: 87,997,927 K193N probably damaging Het
Vmn1r3 A G 4: 3,185,098 S70P possibly damaging Het
Vmn2r2 T A 3: 64,116,653 K836* probably null Het
Vmn2r75 T A 7: 86,165,274 H337L probably benign Het
Wars G A 12: 108,861,383 T437M probably benign Het
Zdhhc5 T C 2: 84,690,481 T451A probably benign Het
Zfp788 T G 7: 41,648,541 H180Q possibly damaging Het
Zkscan7 A G 9: 122,888,717 E59G probably damaging Het
Other mutations in Ube2m
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03100:Ube2m APN 7 13037635 missense probably benign 0.37
IGL03304:Ube2m APN 7 13035758 unclassified probably benign
R0077:Ube2m UTSW 7 13035730 missense probably damaging 1.00
R0715:Ube2m UTSW 7 13037626 missense probably benign 0.01
R0733:Ube2m UTSW 7 13035752 missense probably damaging 0.98
R1460:Ube2m UTSW 7 13035835 unclassified probably benign
R5207:Ube2m UTSW 7 13036322 unclassified probably null
R5228:Ube2m UTSW 7 13035770 unclassified probably benign
R6226:Ube2m UTSW 7 13035888 missense probably damaging 1.00
R6591:Ube2m UTSW 7 13036469 missense probably damaging 0.99
R6594:Ube2m UTSW 7 13037690 nonsense probably null
R6691:Ube2m UTSW 7 13036469 missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-04-02