Incidental Mutation 'R0395:Ube2u'
ID 31922
Institutional Source Beutler Lab
Gene Symbol Ube2u
Ensembl Gene ENSMUSG00000069733
Gene Name ubiquitin-conjugating enzyme E2U (putative)
Synonyms
MMRRC Submission 038601-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0395 (G1)
Quality Score 195
Status Validated
Chromosome 4
Chromosomal Location 100336064-100407342 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100338845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 37 (K37E)
Ref Sequence ENSEMBL: ENSMUSP00000137472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092730] [ENSMUST00000133493]
AlphaFold B1AUC4
Predicted Effect probably benign
Transcript: ENSMUST00000092730
SMART Domains Protein: ENSMUSP00000090406
Gene: ENSMUSG00000069733

DomainStartEndE-ValueType
Blast:UBCc 1 40 4e-17 BLAST
coiled coil region 147 189 N/A INTRINSIC
low complexity region 196 207 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133493
AA Change: K37E

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000137472
Gene: ENSMUSG00000069733
AA Change: K37E

DomainStartEndE-ValueType
UBCc 7 153 1.58e-25 SMART
coiled coil region 260 302 N/A INTRINSIC
low complexity region 309 320 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 98% (103/105)
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik T C 13: 59,837,470 (GRCm39) K205R possibly damaging Het
9630041A04Rik A T 9: 101,819,934 (GRCm39) N118I probably damaging Het
AAdacl4fm3 A G 4: 144,429,765 (GRCm39) V408A probably benign Het
Acsm2 G A 7: 119,174,969 (GRCm39) D245N probably damaging Het
Adgrv1 A T 13: 81,534,072 (GRCm39) H5836Q probably benign Het
Ahcyl2 T C 6: 29,886,167 (GRCm39) V391A probably damaging Het
Alcam A T 16: 52,130,227 (GRCm39) M41K probably benign Het
Aldh3b3 A C 19: 4,016,472 (GRCm39) E363D probably benign Het
Alk A G 17: 72,910,526 (GRCm39) V60A probably damaging Het
Als2cl G A 9: 110,727,152 (GRCm39) R906H probably damaging Het
Ap5z1 T C 5: 142,456,317 (GRCm39) probably benign Het
Apba2 T A 7: 64,393,156 (GRCm39) I547N probably benign Het
Apol10b A T 15: 77,469,840 (GRCm39) D112E probably damaging Het
Ash1l C A 3: 88,965,896 (GRCm39) R2433S probably damaging Het
Cachd1 T C 4: 100,810,402 (GRCm39) F335L probably damaging Het
Cbfa2t3 G T 8: 123,365,690 (GRCm39) Q181K probably benign Het
Cct6b A G 11: 82,630,506 (GRCm39) M265T probably benign Het
Cd151 G A 7: 141,050,304 (GRCm39) V180I probably damaging Het
Ces1h T A 8: 94,083,706 (GRCm39) N412I unknown Het
Chmp7 T C 14: 69,969,905 (GRCm39) T12A probably benign Het
Clasp1 A G 1: 118,467,061 (GRCm39) T534A possibly damaging Het
Cldn15 T A 5: 136,997,052 (GRCm39) V31E possibly damaging Het
Col16a1 G A 4: 129,966,902 (GRCm39) G583D probably damaging Het
Csmd1 T C 8: 16,396,652 (GRCm39) N426S probably damaging Het
Dapp1 C T 3: 137,641,398 (GRCm39) C199Y possibly damaging Het
Dchs1 A G 7: 105,407,745 (GRCm39) L2029P probably damaging Het
Dmc1 A G 15: 79,472,973 (GRCm39) F158S probably damaging Het
Dst C T 1: 34,228,200 (GRCm39) P1606L probably damaging Het
Dthd1 T A 5: 62,971,676 (GRCm39) N166K possibly damaging Het
Enam A T 5: 88,649,367 (GRCm39) Y292F probably damaging Het
Esrrg A T 1: 187,930,832 (GRCm39) I285F probably damaging Het
Fam50b A G 13: 34,931,220 (GRCm39) D232G probably damaging Het
Fam91a1 T A 15: 58,326,641 (GRCm39) S792T probably benign Het
Fbxw22 A C 9: 109,210,753 (GRCm39) C419W probably damaging Het
Flt4 G A 11: 49,521,170 (GRCm39) S393N probably benign Het
Fras1 A T 5: 96,917,512 (GRCm39) T3511S possibly damaging Het
Frat2 A C 19: 41,836,263 (GRCm39) S30A probably damaging Het
Glp1r T A 17: 31,155,312 (GRCm39) M433K probably benign Het
Gm10300 G A 4: 131,802,299 (GRCm39) probably benign Het
Gpatch4 A G 3: 87,961,661 (GRCm39) probably benign Het
Gpr22 A T 12: 31,759,461 (GRCm39) S220R possibly damaging Het
Grn T C 11: 102,327,049 (GRCm39) V549A probably benign Het
Gtf3c5 T C 2: 28,467,930 (GRCm39) D177G probably damaging Het
Htr1b A T 9: 81,513,704 (GRCm39) M301K probably benign Het
Ifi207 A T 1: 173,557,431 (GRCm39) S436T possibly damaging Het
Ifnb1 A T 4: 88,440,766 (GRCm39) N82K possibly damaging Het
Ina T G 19: 47,010,358 (GRCm39) N384K probably damaging Het
Kirrel2 T C 7: 30,149,883 (GRCm39) N541D possibly damaging Het
Lrp2 A T 2: 69,263,421 (GRCm39) I4377N possibly damaging Het
Lrrc37a A G 11: 103,355,221 (GRCm39) V2532A unknown Het
Mast4 T C 13: 102,871,781 (GRCm39) E2529G probably damaging Het
Myh6 T C 14: 55,183,777 (GRCm39) H1719R possibly damaging Het
Myo5a A T 9: 75,101,259 (GRCm39) H150L probably benign Het
Naglu C T 11: 100,964,933 (GRCm39) probably benign Het
Nags G A 11: 102,036,530 (GRCm39) A40T unknown Het
Nav1 G T 1: 135,460,359 (GRCm39) Y321* probably null Het
Nav1 A T 1: 135,460,361 (GRCm39) Y321N probably damaging Het
Neu3 C T 7: 99,462,985 (GRCm39) S246N probably benign Het
Npy5r C T 8: 67,134,625 (GRCm39) G56D probably benign Het
Nrxn1 A G 17: 91,395,742 (GRCm39) V138A possibly damaging Het
Nuggc C T 14: 65,850,921 (GRCm39) Q264* probably null Het
Ogfod1 G A 8: 94,790,156 (GRCm39) probably null Het
Or1o11 T A 17: 37,756,757 (GRCm39) F115Y probably damaging Het
Or2t45 A T 11: 58,669,195 (GRCm39) M81L probably benign Het
Or5b101 A G 19: 13,005,663 (GRCm39) F10S probably damaging Het
Or5p66 A G 7: 107,885,478 (GRCm39) V285A probably benign Het
Per1 T A 11: 68,993,103 (GRCm39) I340N probably damaging Het
Pkhd1 C T 1: 20,451,771 (GRCm39) A2175T probably benign Het
Pogk A G 1: 166,231,171 (GRCm39) V52A probably damaging Het
Pou2af3 C T 9: 51,191,834 (GRCm39) probably benign Het
Ppib A T 9: 65,973,601 (GRCm39) T185S possibly damaging Het
Ptar1 G T 19: 23,697,563 (GRCm39) M358I probably damaging Het
Qser1 A C 2: 104,593,226 (GRCm39) I1597S probably damaging Het
Ranbp17 T C 11: 33,424,896 (GRCm39) I487V probably benign Het
Repin1 C A 6: 48,574,459 (GRCm39) R460S probably damaging Het
Sfmbt1 T C 14: 30,509,574 (GRCm39) probably benign Het
Sh3rf1 C T 8: 61,846,696 (GRCm39) probably benign Het
Shroom3 C T 5: 92,928,762 (GRCm39) R106C probably damaging Het
Siglecf T A 7: 43,005,399 (GRCm39) V453D probably damaging Het
Slc2a9 A G 5: 38,610,512 (GRCm39) S96P probably damaging Het
Slc5a2 A G 7: 127,866,654 (GRCm39) Y124C probably damaging Het
Slf1 A G 13: 77,254,088 (GRCm39) probably benign Het
Smad1 T G 8: 80,076,411 (GRCm39) K269T probably benign Het
Srp54b G A 12: 55,296,884 (GRCm39) R194H probably damaging Het
St8sia6 T A 2: 13,670,247 (GRCm39) S238C probably damaging Het
Stat3 A T 11: 100,780,763 (GRCm39) probably benign Het
Tafa2 A T 10: 123,429,497 (GRCm39) H37L probably benign Het
Tas1r2 T A 4: 139,382,665 (GRCm39) M101K possibly damaging Het
Tesc A G 5: 118,191,647 (GRCm39) probably null Het
Tle3 T A 9: 61,317,353 (GRCm39) M334K probably damaging Het
Tmem151a A T 19: 5,132,261 (GRCm39) V315E probably damaging Het
Tmprss2 T C 16: 97,368,245 (GRCm39) D480G probably damaging Het
Trmt1 C A 8: 85,423,741 (GRCm39) probably null Het
Tsr3 T C 17: 25,461,198 (GRCm39) probably null Het
Usp16 T A 16: 87,272,334 (GRCm39) D382E probably damaging Het
Usp9y A T Y: 1,340,053 (GRCm39) F1442Y probably damaging Het
Utp20 A T 10: 88,654,457 (GRCm39) M210K probably damaging Het
Utp25 T C 1: 192,805,984 (GRCm39) E187G possibly damaging Het
V1ra8 C T 6: 90,179,991 (GRCm39) L65F possibly damaging Het
Vmn2r10 T C 5: 109,149,859 (GRCm39) N395S probably damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp330 G A 8: 83,491,511 (GRCm39) Q221* probably null Het
Other mutations in Ube2u
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Ube2u APN 4 100,336,422 (GRCm39) missense possibly damaging 0.77
IGL01641:Ube2u APN 4 100,338,854 (GRCm39) missense probably benign 0.02
IGL02633:Ube2u APN 4 100,339,971 (GRCm39) splice site probably benign
IGL03126:Ube2u APN 4 100,407,199 (GRCm39) makesense probably null
IGL03358:Ube2u APN 4 100,404,472 (GRCm39) splice site probably benign
R0043:Ube2u UTSW 4 100,340,026 (GRCm39) missense possibly damaging 0.93
R0102:Ube2u UTSW 4 100,407,122 (GRCm39) missense possibly damaging 0.66
R0102:Ube2u UTSW 4 100,407,122 (GRCm39) missense possibly damaging 0.66
R0110:Ube2u UTSW 4 100,343,870 (GRCm39) missense probably benign 0.01
R0113:Ube2u UTSW 4 100,338,852 (GRCm39) missense possibly damaging 0.93
R0357:Ube2u UTSW 4 100,338,851 (GRCm39) nonsense probably null
R0465:Ube2u UTSW 4 100,389,293 (GRCm39) splice site probably benign
R0469:Ube2u UTSW 4 100,343,870 (GRCm39) missense probably benign 0.01
R0788:Ube2u UTSW 4 100,371,937 (GRCm39) splice site probably benign
R1958:Ube2u UTSW 4 100,338,833 (GRCm39) missense probably benign
R2216:Ube2u UTSW 4 100,389,365 (GRCm39) missense probably benign 0.00
R2937:Ube2u UTSW 4 100,381,495 (GRCm39) missense possibly damaging 0.93
R4086:Ube2u UTSW 4 100,407,039 (GRCm39) missense probably benign 0.18
R4471:Ube2u UTSW 4 100,338,843 (GRCm39) nonsense probably null
R4781:Ube2u UTSW 4 100,343,855 (GRCm39) missense probably benign 0.08
R6385:Ube2u UTSW 4 100,389,341 (GRCm39) missense possibly damaging 0.91
R6912:Ube2u UTSW 4 100,389,352 (GRCm39) missense probably damaging 0.99
R7382:Ube2u UTSW 4 100,389,379 (GRCm39) nonsense probably null
R8793:Ube2u UTSW 4 100,336,416 (GRCm39) missense probably damaging 0.99
R9349:Ube2u UTSW 4 100,407,194 (GRCm39) missense unknown
R9469:Ube2u UTSW 4 100,406,958 (GRCm39) missense possibly damaging 0.72
R9644:Ube2u UTSW 4 100,406,943 (GRCm39) small deletion probably benign
Z1176:Ube2u UTSW 4 100,340,037 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCCTGACATCTACCTTAACGTAAGGCA -3'
(R):5'- GATGGGAGTGAGGCCCTGGA -3'

Sequencing Primer
(F):5'- tgggagtgggtgggtgg -3'
(R):5'- TCTTATtctgtctctctgactctctc -3'
Posted On 2013-04-24