Incidental Mutation 'IGL01324:Ube2u'
ID74161
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube2u
Ensembl Gene ENSMUSG00000069733
Gene Nameubiquitin-conjugating enzyme E2U (putative)
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01324
Quality Score
Status
Chromosome4
Chromosomal Location100478849-100550147 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 100479225 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 15 (E15G)
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: E15G

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000137472
Gene: ENSMUSG00000069733
AA Change: E15G

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak G A 19: 9,003,032 G560D probably damaging Het
Ap1g1 T A 8: 109,832,782 D239E possibly damaging Het
Ap2a1 T A 7: 44,905,696 T482S probably damaging Het
BC004004 T C 17: 29,282,251 L58P probably damaging Het
Camsap1 C A 2: 25,933,623 V1472L possibly damaging Het
Ces3b A T 8: 105,093,252 E569V probably damaging Het
Commd6 G A 14: 101,640,302 probably benign Het
Ddx54 A G 5: 120,623,638 D493G probably benign Het
Dync1h1 C T 12: 110,626,865 R1189C probably damaging Het
Ern2 T A 7: 122,183,190 I68F possibly damaging Het
Eya4 A G 10: 23,116,551 probably null Het
Gda A T 19: 21,409,886 I325K probably damaging Het
Gmnn T C 13: 24,752,122 T190A probably benign Het
Hdac4 G A 1: 91,959,415 P801S probably damaging Het
Hnrnph3 A T 10: 63,018,124 *72K probably null Het
Hoxd12 A T 2: 74,675,136 N17I probably damaging Het
Incenp G A 19: 9,883,728 R497C unknown Het
Iqsec1 C A 6: 90,689,703 R584L probably damaging Het
Kcnip1 A G 11: 33,645,603 M1T probably null Het
Kcnu1 T A 8: 25,849,707 S18T probably benign Het
Lepr T A 4: 101,768,068 D473E probably benign Het
Nfkbiz T C 16: 55,815,804 T564A probably damaging Het
Nsd3 C T 8: 25,662,820 T392I probably damaging Het
Olfr1490 T C 19: 13,654,933 I163T probably damaging Het
Olfr713 T C 7: 107,036,847 S231P probably damaging Het
P4ha2 A G 11: 54,120,158 D333G probably damaging Het
Parg T C 14: 32,296,185 probably benign Het
Psmc2 G A 5: 21,800,009 probably null Het
Rnf213 A G 11: 119,447,237 Y3354C probably damaging Het
Siglec1 T G 2: 131,085,541 D115A probably damaging Het
Slit3 G T 11: 35,610,702 G421V probably damaging Het
Srgap3 T A 6: 112,739,397 H590L probably damaging Het
Stk36 A C 1: 74,625,610 T628P possibly damaging Het
Stx12 A T 4: 132,863,265 M107K probably benign Het
Syne2 G T 12: 76,043,752 V5105F probably damaging Het
Tecta T C 9: 42,345,431 S1650G probably damaging Het
Tlr1 T C 5: 64,925,179 N685S probably damaging Het
Trio A G 15: 27,905,323 V60A probably benign Het
Ttyh3 G A 5: 140,631,513 R334W probably benign Het
Ush2a G T 1: 188,848,992 V3690L probably benign Het
Xab2 A G 8: 3,621,232 V16A possibly damaging Het
Other mutations in Ube2u
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R0113:Ube2u UTSW 4 100481655 missense possibly damaging 0.93
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
Posted On2013-10-07