Incidental Mutation 'IGL03410:Ube2d3'
ID421734
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube2d3
Ensembl Gene ENSMUSG00000078578
Gene Nameubiquitin-conjugating enzyme E2D 3
Synonyms9430029A22Rik, 1100001F19Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.643) question?
Stock #IGL03410
Quality Score
Status
Chromosome3
Chromosomal Location135438149-135468198 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 135465217 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 141 (W141R)
Ref Sequence ENSEMBL: ENSMUSP00000143301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106291] [ENSMUST00000166033] [ENSMUST00000196446] [ENSMUST00000197134] [ENSMUST00000197539] [ENSMUST00000197859] [ENSMUST00000198685] [ENSMUST00000198748] [ENSMUST00000199613]
Predicted Effect probably damaging
Transcript: ENSMUST00000106291
AA Change: W141R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101898
Gene: ENSMUSG00000078578
AA Change: W141R

DomainStartEndE-ValueType
UBCc 4 147 1.61e-72 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000166033
AA Change: W141R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130096
Gene: ENSMUSG00000078578
AA Change: W141R

DomainStartEndE-ValueType
UBCc 4 147 1.61e-72 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000196446
AA Change: W141R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000142974
Gene: ENSMUSG00000078578
AA Change: W141R

DomainStartEndE-ValueType
UBCc 4 147 1.61e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196564
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196878
Predicted Effect probably benign
Transcript: ENSMUST00000197134
SMART Domains Protein: ENSMUSP00000143606
Gene: ENSMUSG00000078578

DomainStartEndE-ValueType
UBCc 4 147 2.16e-73 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000197539
AA Change: W141R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143065
Gene: ENSMUSG00000078578
AA Change: W141R

DomainStartEndE-ValueType
UBCc 4 147 1.61e-72 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000197859
AA Change: W141R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143608
Gene: ENSMUSG00000078578
AA Change: W141R

DomainStartEndE-ValueType
UBCc 4 147 1.61e-72 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198685
SMART Domains Protein: ENSMUSP00000142612
Gene: ENSMUSG00000078578

DomainStartEndE-ValueType
UBCc 4 132 3.5e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198748
SMART Domains Protein: ENSMUSP00000142763
Gene: ENSMUSG00000078578

DomainStartEndE-ValueType
Pfam:UQ_con 5 45 8.3e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000199613
AA Change: W141R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143301
Gene: ENSMUSG00000078578
AA Change: W141R

DomainStartEndE-ValueType
UBCc 4 147 1.61e-72 SMART
Coding Region Coverage
Validation Efficiency
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. This enzyme functions in the ubiquitination of the tumor-suppressor protein p53, which is induced by an E3 ubiquitin-protein ligase. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,001,896 V409E probably damaging Het
1700086D15Rik A G 11: 65,152,567 probably benign Het
Apba1 A G 19: 23,937,581 N715S possibly damaging Het
Arfgef3 G T 10: 18,600,490 A1527D probably damaging Het
Cmtm2a G T 8: 104,283,869 P133T probably damaging Het
Cyp2d9 T C 15: 82,456,699 V483A probably benign Het
Dclre1b T A 3: 103,808,140 D14V probably damaging Het
Dock5 T C 14: 67,846,086 I125V probably benign Het
Dok3 G T 13: 55,524,231 Y211* probably null Het
Fat4 T C 3: 38,891,176 V1406A probably damaging Het
Fbn2 A G 18: 58,050,243 F1790S possibly damaging Het
Gm13083 C A 4: 143,615,281 H93Q probably benign Het
Gm4787 A T 12: 81,379,174 M70K probably damaging Het
Gulp1 A T 1: 44,708,617 D10V probably damaging Het
Hagh T C 17: 24,860,942 probably benign Het
Htt A G 5: 34,799,445 E206G probably damaging Het
Hyou1 A G 9: 44,388,058 E682G probably benign Het
Igkv4-59 G T 6: 69,438,466 A35E probably damaging Het
Krt78 A G 15: 101,953,986 V80A probably damaging Het
Lars2 G A 9: 123,418,776 A333T possibly damaging Het
Lrrc4 G A 6: 28,830,516 R367W probably damaging Het
Med1 A T 11: 98,189,183 M44K possibly damaging Het
Mep1a T A 17: 43,478,095 probably null Het
Mmrn1 A G 6: 60,975,835 I367V probably benign Het
Myo18a T C 11: 77,848,004 L1677P probably damaging Het
Neb T C 2: 52,319,705 T246A probably benign Het
Nkiras1 A G 14: 18,280,073 R155G probably benign Het
Nrip1 T C 16: 76,292,491 N726S probably benign Het
Nyap2 A G 1: 81,241,441 T393A possibly damaging Het
Olfr1029 T A 2: 85,975,420 M59K probably damaging Het
Olfr1272 A G 2: 90,282,213 Y121H probably damaging Het
Olfr32 G A 2: 90,139,145 probably benign Het
Oprm1 A T 10: 6,830,051 I238F probably damaging Het
Pcnx2 T A 8: 125,887,040 E557D probably damaging Het
Pole A G 5: 110,324,559 I1563V probably benign Het
Prdx3 T G 19: 60,871,410 probably benign Het
Rgsl1 C T 1: 153,793,755 R295K probably null Het
Rhbdl2 T A 4: 123,829,670 L289* probably null Het
Rnps1 A G 17: 24,421,861 probably benign Het
Rpgrip1 A G 14: 52,158,366 probably benign Het
Ryr2 A T 13: 11,588,147 Y4518N probably damaging Het
Scyl3 A G 1: 163,944,867 N296S probably damaging Het
Sipa1l3 G A 7: 29,348,539 T1308M probably damaging Het
Slc39a9 A G 12: 80,644,888 D3G probably damaging Het
Slc4a9 A G 18: 36,529,687 E165G probably benign Het
Slc6a3 A T 13: 73,538,657 I48F probably benign Het
Stxbp3 C T 3: 108,802,160 C354Y probably damaging Het
Terb1 C A 8: 104,473,042 probably benign Het
Tfrc G A 16: 32,624,831 probably null Het
Toporsl A C 4: 52,611,134 R342S probably benign Het
Ttc26 T C 6: 38,385,500 L70P probably damaging Het
Vps13b G T 15: 35,910,340 V3417L probably benign Het
Other mutations in Ube2d3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03374:Ube2d3 APN 3 135460083 splice site probably null
R1772:Ube2d3 UTSW 3 135465211 missense probably benign 0.02
R2047:Ube2d3 UTSW 3 135465206 missense probably benign 0.01
R2210:Ube2d3 UTSW 3 135463041 missense probably benign
Posted On2016-08-02