Incidental Mutation 'R0010:Ube2d2b'
ID8134
Institutional Source Beutler Lab
Gene Symbol Ube2d2b
Ensembl Gene ENSMUSG00000063447
Gene Nameubiquitin-conjugating enzyme E2D 2B
Synonyms1700013N18Rik
MMRRC Submission 038305-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.208) question?
Stock #R0010 (G1)
Quality Score
Status Validated
Chromosome5
Chromosomal Location107830099-107831776 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 107830636 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 51 (F51S)
Ref Sequence ENSEMBL: ENSMUSP00000072387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072578] [ENSMUST00000112642] [ENSMUST00000124034] [ENSMUST00000128723] [ENSMUST00000138111] [ENSMUST00000155955]
Predicted Effect possibly damaging
Transcript: ENSMUST00000072578
AA Change: F51S

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000072387
Gene: ENSMUSG00000063447
AA Change: F51S

DomainStartEndE-ValueType
UBCc 4 147 3.7e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112642
SMART Domains Protein: ENSMUSP00000108261
Gene: ENSMUSG00000011831

DomainStartEndE-ValueType
low complexity region 51 80 N/A INTRINSIC
Blast:TBC 81 157 2e-16 BLAST
TBC 160 371 7.92e-91 SMART
internal_repeat_1 450 477 8.83e-6 PROSPERO
internal_repeat_1 494 521 8.83e-6 PROSPERO
coiled coil region 555 717 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124034
SMART Domains Protein: ENSMUSP00000121761
Gene: ENSMUSG00000011831

DomainStartEndE-ValueType
low complexity region 7 36 N/A INTRINSIC
Blast:TBC 37 113 3e-17 BLAST
TBC 116 327 7.92e-91 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127579
Predicted Effect probably benign
Transcript: ENSMUST00000128723
SMART Domains Protein: ENSMUSP00000114845
Gene: ENSMUSG00000011831

DomainStartEndE-ValueType
low complexity region 7 36 N/A INTRINSIC
Blast:TBC 37 113 2e-16 BLAST
TBC 116 327 7.92e-91 SMART
internal_repeat_1 466 493 2.66e-6 PROSPERO
internal_repeat_1 510 537 2.66e-6 PROSPERO
coiled coil region 571 660 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132482
Predicted Effect probably benign
Transcript: ENSMUST00000138111
SMART Domains Protein: ENSMUSP00000119196
Gene: ENSMUSG00000011831

DomainStartEndE-ValueType
low complexity region 7 36 N/A INTRINSIC
Blast:TBC 37 113 3e-17 BLAST
TBC 116 327 7.92e-91 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141673
Predicted Effect probably benign
Transcript: ENSMUST00000155955
SMART Domains Protein: ENSMUSP00000119758
Gene: ENSMUSG00000011831

DomainStartEndE-ValueType
Blast:TBC 18 133 3e-20 BLAST
Pfam:RabGAP-TBC 150 222 1.6e-11 PFAM
Meta Mutation Damage Score 0.7116 question?
Coding Region Coverage
  • 1x: 79.6%
  • 3x: 70.9%
  • 10x: 47.0%
  • 20x: 26.4%
Validation Efficiency 91% (78/86)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 C T 5: 81,792,403 A1320V possibly damaging Het
Ahrr G A 13: 74,283,024 probably benign Het
BC037034 T C 5: 138,260,293 probably null Het
Cd74 A T 18: 60,809,071 H124L probably benign Het
Cdk5rap2 T C 4: 70,243,459 E270G probably benign Het
Cldnd1 T A 16: 58,731,259 probably benign Het
Dennd4a T C 9: 64,896,715 L1112P probably benign Het
Evc2 T A 5: 37,417,449 L1016Q probably damaging Het
Fam135b T C 15: 71,622,032 K16R probably damaging Het
Frem1 T C 4: 83,000,098 I536V probably benign Het
Ginm1 T C 10: 7,775,374 probably benign Het
Glrb A T 3: 80,860,315 probably benign Het
Glt6d1 C A 2: 25,794,727 probably null Het
Gm10320 T C 13: 98,489,546 Y110C probably damaging Het
Intu T C 3: 40,654,272 probably benign Het
Ltbp1 A G 17: 75,363,391 T1476A probably damaging Het
Mcoln2 C T 3: 146,183,561 T374M probably damaging Het
Mitf A G 6: 97,807,281 K33R probably benign Het
Nlgn1 G T 3: 25,435,842 probably benign Het
Nup133 A T 8: 123,904,579 I1072N probably damaging Het
Rock1 T A 18: 10,084,380 D951V probably damaging Het
Scgb2b26 T A 7: 33,944,349 E55D probably damaging Het
Scn8a T C 15: 101,013,573 V958A probably damaging Het
Sgk1 G A 10: 21,997,438 probably null Het
Shprh C T 10: 11,151,931 T94I probably benign Het
Smg1 A T 7: 118,171,859 probably benign Het
Spta1 G A 1: 174,217,943 V1556I probably benign Het
Trappc4 G A 9: 44,405,231 probably benign Het
Txlna T G 4: 129,629,086 D487A probably benign Het
Wdfy3 T C 5: 101,848,349 T3234A probably damaging Het
Zbtb41 T G 1: 139,423,530 V127G probably damaging Het
Zfp608 A T 18: 54,895,214 probably benign Het
Other mutations in Ube2d2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02985:Ube2d2b APN 5 107830797 missense probably damaging 1.00
R0010:Ube2d2b UTSW 5 107830636 missense possibly damaging 0.56
R0308:Ube2d2b UTSW 5 107830908 missense possibly damaging 0.67
R4151:Ube2d2b UTSW 5 107830881 nonsense probably null
R5907:Ube2d2b UTSW 5 107830632 missense probably damaging 1.00
R7124:Ube2d2b UTSW 5 107830851 missense probably benign 0.16
Posted On2012-11-20