Incidental Mutation 'R0113:Ube2u'
ID20573
Institutional Source Beutler Lab
Gene Symbol Ube2u
Ensembl Gene ENSMUSG00000069733
Gene Nameubiquitin-conjugating enzyme E2U (putative)
Synonyms
MMRRC Submission 038399-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0113 (G1)
Quality Score225
Status Validated (trace)
Chromosome4
Chromosomal Location100478849-100550147 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 100481655 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 39 (E39G)
Ref Sequence ENSEMBL: ENSMUSP00000137472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092730] [ENSMUST00000133493]
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 possibly damaging
Transcript: ENSMUST00000133493
AA Change: E39G

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137472
Gene: ENSMUSG00000069733
AA Change: E39G

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 0.1598 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.1%
  • 10x: 95.2%
  • 20x: 87.5%
Validation Efficiency 99% (70/71)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3930402G23Rik A G 8: 10,926,126 noncoding transcript Het
4930432K21Rik C T 8: 84,167,242 T311I probably damaging Het
Abca13 A T 11: 9,292,114 I1326F possibly damaging Het
Arnt2 G A 7: 84,347,530 R63C probably damaging Het
Aspscr1 C G 11: 120,688,925 Q97E probably damaging Het
Atad2 A G 15: 58,120,934 probably benign Het
Atcay A T 10: 81,214,720 probably null Het
C4b T A 17: 34,741,240 Y279F probably damaging Het
Cav1 A T 6: 17,308,049 S67C possibly damaging Het
Celf2 A C 2: 6,624,714 H113Q probably damaging Het
Cep170 A C 1: 176,758,455 N590K probably damaging Het
Ces1f A T 8: 93,279,699 M1K probably null Het
Chrna1 C A 2: 73,566,836 D370Y possibly damaging Het
Csmd1 C A 8: 15,984,849 G2441C probably damaging Het
D630003M21Rik C T 2: 158,196,575 D984N possibly damaging Het
Dhrs1 T C 14: 55,739,939 T241A probably benign Het
Edar A C 10: 58,629,449 C31G probably damaging Het
Eps8 A G 6: 137,537,684 S24P possibly damaging Het
Fam149a T C 8: 45,341,024 E669G probably damaging Het
Fcrla A T 1: 170,922,299 M1K probably null Het
G3bp1 T A 11: 55,495,426 V237E probably benign Het
Galnt5 A G 2: 57,998,877 E163G probably benign Het
Gm5155 G A 7: 17,908,948 noncoding transcript Het
Gpr87 T C 3: 59,179,511 D192G possibly damaging Het
Ino80 G A 2: 119,382,960 R1249C probably damaging Het
Ints1 T C 5: 139,765,213 T810A probably benign Het
Kalrn A G 16: 34,049,936 probably benign Het
Kcnk6 T C 7: 29,232,209 D92G probably damaging Het
Marf1 C T 16: 14,142,534 A549T probably damaging Het
Mfsd13a C T 19: 46,366,504 T40I probably benign Het
Mfsd6 A T 1: 52,709,189 N172K probably damaging Het
Mtcl1 G T 17: 66,354,242 Q1225K possibly damaging Het
Nav2 C T 7: 49,535,953 T948M probably damaging Het
Nfic T C 10: 81,420,585 K104E probably damaging Het
Nupl1 G A 14: 60,251,291 probably benign Het
Nwd2 A T 5: 63,807,898 K1608N probably damaging Het
Olfr148 T A 9: 39,614,002 I145K probably benign Het
Olfr50 G A 2: 36,793,994 G253R probably damaging Het
Olfr50 G T 2: 36,793,995 G253V probably damaging Het
Phf21b T C 15: 84,804,767 D186G probably damaging Het
Poli C T 18: 70,528,758 C57Y probably damaging Het
Ppp1r16a C T 15: 76,690,799 probably benign Het
Psg23 T C 7: 18,612,002 Y256C probably benign Het
Satb1 C A 17: 51,782,698 E374* probably null Het
Scn4a C T 11: 106,345,436 E333K probably benign Het
Sec14l2 C T 11: 4,103,661 probably benign Het
Slain1 T C 14: 103,685,825 probably benign Het
Snapc1 C T 12: 73,975,032 R81C probably damaging Het
Syne2 T C 12: 75,930,578 S1266P probably damaging Het
Syne2 A G 12: 76,033,722 E4810G probably damaging Het
Tbck T C 3: 132,743,080 I618T probably damaging Het
Tmem132d A T 5: 127,784,593 N821K probably benign Het
Trim28 T A 7: 13,028,701 V381E probably damaging Het
Ttc1 T C 11: 43,745,288 S43G probably benign Het
Urb2 T C 8: 124,030,926 V1124A probably benign Het
Usp13 A G 3: 32,817,876 probably benign Het
Vmn1r216 A T 13: 23,099,461 S105C probably damaging Het
Yipf2 T C 9: 21,590,116 T23A probably damaging Het
Zfp521 G A 18: 13,845,091 T755M probably damaging Het
Zfp619 T A 7: 39,537,759 M1071K probably benign Het
Zfp942 A T 17: 21,929,085 C188S probably benign Het
Other mutations in Ube2u
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01324:Ube2u APN 4 100479225 missense possibly damaging 0.77
IGL01641:Ube2u APN 4 100481657 missense probably benign 0.02
IGL02633:Ube2u APN 4 100482774 splice site probably benign
IGL03126:Ube2u APN 4 100550002 makesense probably null
IGL03358:Ube2u APN 4 100547275 splice site probably benign
R0043:Ube2u UTSW 4 100482829 missense possibly damaging 0.93
R0102:Ube2u UTSW 4 100549925 missense possibly damaging 0.66
R0102:Ube2u UTSW 4 100549925 missense possibly damaging 0.66
R0110:Ube2u UTSW 4 100486673 missense probably benign 0.01
R0357:Ube2u UTSW 4 100481654 nonsense probably null
R0395:Ube2u UTSW 4 100481648 missense probably benign 0.02
R0465:Ube2u UTSW 4 100532096 splice site probably benign
R0469:Ube2u UTSW 4 100486673 missense probably benign 0.01
R0788:Ube2u UTSW 4 100514740 splice site probably benign
R1958:Ube2u UTSW 4 100481636 missense probably benign
R2216:Ube2u UTSW 4 100532168 missense probably benign 0.00
R2937:Ube2u UTSW 4 100524298 missense possibly damaging 0.93
R4086:Ube2u UTSW 4 100549842 missense probably benign 0.18
R4471:Ube2u UTSW 4 100481646 nonsense probably null
R4781:Ube2u UTSW 4 100486658 missense probably benign 0.08
R6385:Ube2u UTSW 4 100532144 missense possibly damaging 0.91
R6912:Ube2u UTSW 4 100532155 missense probably damaging 0.99
R7382:Ube2u UTSW 4 100532182 nonsense probably null
Z1176:Ube2u UTSW 4 100482840 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCCTGACATCTACCTTAACGTAAGGCAT -3'
(R):5'- GATGGGAGTGAGGCCCTGGA -3'

Sequencing Primer
(F):5'- tgggagtgggtgggtgg -3'
(R):5'- GAGGCCCTGGATTCAATTCTTATTC -3'
Posted On2013-04-11