Incidental Mutation 'R6594:Ube2m'
ID 524769
Institutional Source Beutler Lab
Gene Symbol Ube2m
Ensembl Gene ENSMUSG00000005575
Gene Name ubiquitin-conjugating enzyme E2M
Synonyms Ubc-rs2, UBC12, 2510040H03Rik
MMRRC Submission 044718-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6594 (G1)
Quality Score 119.008
Status Validated
Chromosome 7
Chromosomal Location 12769047-12772202 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 12771617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 14 (E14*)
Ref Sequence ENSEMBL: ENSMUSP00000005714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005711] [ENSMUST00000005714] [ENSMUST00000069289] [ENSMUST00000125964] [ENSMUST00000165394] [ENSMUST00000211369] [ENSMUST00000211626] [ENSMUST00000210587] [ENSMUST00000211344] [ENSMUST00000182515]
AlphaFold P61082
Predicted Effect probably benign
Transcript: ENSMUST00000005711
SMART Domains Protein: ENSMUSP00000005711
Gene: ENSMUSG00000033916

DomainStartEndE-ValueType
Pfam:Snf7 17 187 9.5e-50 PFAM
coiled coil region 196 222 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000005714
AA Change: E14*
SMART Domains Protein: ENSMUSP00000005714
Gene: ENSMUSG00000005575
AA Change: E14*

DomainStartEndE-ValueType
UBCc 32 173 8.83e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000069289
SMART Domains Protein: ENSMUSP00000069122
Gene: ENSMUSG00000030380

DomainStartEndE-ValueType
low complexity region 24 34 N/A INTRINSIC
SCAN 41 153 1.18e-70 SMART
ZnF_C2H2 357 379 4.87e-4 SMART
ZnF_C2H2 385 407 1.95e-3 SMART
ZnF_C2H2 413 435 1.18e-2 SMART
ZnF_C2H2 441 463 8.6e-5 SMART
ZnF_C2H2 486 508 1.79e-2 SMART
ZnF_C2H2 514 536 7.15e-2 SMART
ZnF_C2H2 542 564 8.47e-4 SMART
ZnF_C2H2 570 592 2.79e-4 SMART
ZnF_C2H2 598 620 1.6e-4 SMART
ZnF_C2H2 626 648 1.67e-2 SMART
ZnF_C2H2 654 676 3.44e-4 SMART
ZnF_C2H2 682 704 2.84e-5 SMART
ZnF_C2H2 710 732 2.4e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123541
SMART Domains Protein: ENSMUSP00000120234
Gene: ENSMUSG00000005575

DomainStartEndE-ValueType
UBCc 1 162 2.43e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125964
SMART Domains Protein: ENSMUSP00000122638
Gene: ENSMUSG00000005575

DomainStartEndE-ValueType
UBCc 20 161 3.67e-35 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126827
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131837
Predicted Effect probably benign
Transcript: ENSMUST00000165394
SMART Domains Protein: ENSMUSP00000132604
Gene: ENSMUSG00000005575

DomainStartEndE-ValueType
UBCc 2 76 4.51e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000211369
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156389
SMART Domains Protein: ENSMUSP00000117123
Gene: ENSMUSG00000005575

DomainStartEndE-ValueType
PDB:2NVU|C 69 138 4e-38 PDB
SCOP:d2e2c__ 83 136 2e-8 SMART
Blast:UBCc 92 138 4e-27 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000211626
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209487
Predicted Effect probably benign
Transcript: ENSMUST00000210587
Predicted Effect probably benign
Transcript: ENSMUST00000211344
Predicted Effect probably benign
Transcript: ENSMUST00000182515
SMART Domains Protein: ENSMUSP00000138387
Gene: ENSMUSG00000030380

DomainStartEndE-ValueType
low complexity region 24 34 N/A INTRINSIC
SCAN 41 153 1.18e-70 SMART
ZnF_C2H2 357 379 4.87e-4 SMART
ZnF_C2H2 385 407 1.95e-3 SMART
ZnF_C2H2 413 435 1.18e-2 SMART
ZnF_C2H2 441 463 8.6e-5 SMART
ZnF_C2H2 486 508 1.79e-2 SMART
ZnF_C2H2 514 536 7.15e-2 SMART
ZnF_C2H2 542 564 8.47e-4 SMART
ZnF_C2H2 570 592 2.79e-4 SMART
ZnF_C2H2 598 620 1.6e-4 SMART
ZnF_C2H2 626 648 1.67e-2 SMART
ZnF_C2H2 654 676 3.44e-4 SMART
ZnF_C2H2 682 704 2.84e-5 SMART
ZnF_C2H2 710 732 2.4e-3 SMART
Meta Mutation Damage Score 0.9717 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 96% (52/54)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T C 6: 23,113,432 (GRCm39) N296S probably benign Het
Abca13 A T 11: 9,244,632 (GRCm39) N2165I possibly damaging Het
Anpep T A 7: 79,491,109 (GRCm39) probably null Het
Bcl2a1b A C 9: 89,089,647 (GRCm39) I145L probably benign Het
Ccar2 G A 14: 70,377,925 (GRCm39) L687F probably damaging Het
Cd69 A G 6: 129,246,537 (GRCm39) probably null Het
Chchd10 A C 10: 75,772,158 (GRCm39) Q43P probably damaging Het
Ddx55 A G 5: 124,704,988 (GRCm39) E415G probably damaging Het
Defa41 A G 8: 21,692,471 (GRCm39) probably null Het
Dhx40 A T 11: 86,676,599 (GRCm39) C172S possibly damaging Het
Epha1 G A 6: 42,341,625 (GRCm39) T475I probably benign Het
Eri1 T C 8: 35,949,687 (GRCm39) T91A probably damaging Het
Fscn1 C T 5: 142,955,783 (GRCm39) A158V probably benign Het
Gm11437 C T 11: 84,055,386 (GRCm39) G77R probably null Het
Golm1 T C 13: 59,812,041 (GRCm39) N94D possibly damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Haus4 C A 14: 54,781,268 (GRCm39) E269D possibly damaging Het
Hyou1 T C 9: 44,300,619 (GRCm39) M896T probably benign Het
Itpr2 T A 6: 146,091,978 (GRCm39) M2174L possibly damaging Het
Kars1 T C 8: 112,720,299 (GRCm39) probably benign Het
Kif1a T C 1: 92,949,035 (GRCm39) M1488V probably benign Het
Lrp2 T C 2: 69,270,267 (GRCm39) T4106A possibly damaging Het
Lrrc20 G A 10: 61,318,225 (GRCm39) V16I possibly damaging Het
Mecr T A 4: 131,582,004 (GRCm39) V162E probably damaging Het
Ms4a4a C A 19: 11,363,778 (GRCm39) A102E probably damaging Het
Mycn T C 12: 12,990,051 (GRCm39) D115G probably damaging Het
Ninj2 A T 6: 120,175,750 (GRCm39) T138S possibly damaging Het
Oasl2 G A 5: 115,044,836 (GRCm39) V121I probably benign Het
Or10s1 T C 9: 39,986,239 (GRCm39) L216P probably damaging Het
Or2r11 A T 6: 42,437,309 (GRCm39) S215T probably benign Het
Or7g19 T C 9: 18,856,127 (GRCm39) F61S probably damaging Het
Pcdha11 A C 18: 37,144,235 (GRCm39) I109L probably benign Het
Pira1 T A 7: 3,739,498 (GRCm39) K457* probably null Het
Pon1 A G 6: 5,185,314 (GRCm39) L62P probably damaging Het
Rp1l1 A T 14: 64,269,126 (GRCm39) K1571* probably null Het
Sec24d G T 3: 123,087,412 (GRCm39) G193C probably damaging Het
Sema3b A T 9: 107,476,025 (GRCm39) M732K probably benign Het
Serpinb8 T C 1: 107,525,201 (GRCm39) M1T probably null Het
Sgip1 T A 4: 102,819,676 (GRCm39) V594E probably damaging Het
Slc3a2 T C 19: 8,685,410 (GRCm39) S197G probably damaging Het
Slc44a5 T C 3: 153,964,660 (GRCm39) V520A possibly damaging Het
Surf6 G T 2: 26,792,761 (GRCm39) D13E possibly damaging Het
Tmem94 G A 11: 115,689,112 (GRCm39) R1341H probably damaging Het
Tns2 G A 15: 102,018,994 (GRCm39) R395Q probably benign Het
Traf7 A G 17: 24,728,813 (GRCm39) V591A possibly damaging Het
Trim72 T C 7: 127,609,220 (GRCm39) S341P probably damaging Het
Trps1 A G 15: 50,694,351 (GRCm39) V398A probably damaging Het
Unc119 T A 11: 78,238,046 (GRCm39) Y10N probably damaging Het
Ush2a T C 1: 188,642,995 (GRCm39) L4119P possibly damaging Het
Vcp A T 4: 42,993,826 (GRCm39) I102N probably damaging Het
Vmn2r4 A G 3: 64,296,731 (GRCm39) S685P probably damaging Het
Vmn2r58 T C 7: 41,486,535 (GRCm39) M787V possibly damaging Het
Vmn2r72 T C 7: 85,398,892 (GRCm39) H487R probably benign Het
Xcr1 A G 9: 123,685,309 (GRCm39) I151T probably benign Het
Zfp658 T C 7: 43,216,701 (GRCm39) S24P possibly damaging Het
Zfyve16 T C 13: 92,650,326 (GRCm39) D886G probably benign Het
Other mutations in Ube2m
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03100:Ube2m APN 7 12,771,562 (GRCm39) missense probably benign 0.37
IGL03304:Ube2m APN 7 12,769,685 (GRCm39) unclassified probably benign
R0077:Ube2m UTSW 7 12,769,657 (GRCm39) missense probably damaging 1.00
R0715:Ube2m UTSW 7 12,771,553 (GRCm39) missense probably benign 0.01
R0733:Ube2m UTSW 7 12,769,679 (GRCm39) missense probably damaging 0.98
R1460:Ube2m UTSW 7 12,769,762 (GRCm39) unclassified probably benign
R5207:Ube2m UTSW 7 12,770,249 (GRCm39) splice site probably null
R5228:Ube2m UTSW 7 12,769,697 (GRCm39) unclassified probably benign
R6226:Ube2m UTSW 7 12,769,815 (GRCm39) missense probably damaging 1.00
R6299:Ube2m UTSW 7 12,769,797 (GRCm39) missense probably damaging 1.00
R6591:Ube2m UTSW 7 12,770,396 (GRCm39) missense probably damaging 0.99
R6691:Ube2m UTSW 7 12,770,396 (GRCm39) missense probably damaging 0.99
R8029:Ube2m UTSW 7 12,770,524 (GRCm39) missense probably damaging 1.00
R8036:Ube2m UTSW 7 12,769,566 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATCTATGACCCTCCCTAGTGAC -3'
(R):5'- CTCCTAGCAGAGGGAGCAAG -3'

Sequencing Primer
(F):5'- TCCCTAGTGACCGCACC -3'
(R):5'- TGCTTAGCCAGGCCAGAG -3'
Posted On 2018-06-22