Incidental Mutation 'IGL03374:Ube2d3'
ID 420435
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube2d3
Ensembl Gene ENSMUSG00000078578
Gene Name ubiquitin-conjugating enzyme E2D 3
Synonyms 1100001F19Rik, 9430029A22Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.889) question?
Stock # IGL03374
Quality Score
Status
Chromosome 3
Chromosomal Location 135143993-135173975 bp(+) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) A to G at 135165844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106291] [ENSMUST00000166033] [ENSMUST00000196446] [ENSMUST00000196591] [ENSMUST00000197134] [ENSMUST00000197859] [ENSMUST00000198685] [ENSMUST00000198748] [ENSMUST00000199613] [ENSMUST00000197539] [ENSMUST00000199582]
AlphaFold P61079
Predicted Effect probably null
Transcript: ENSMUST00000106291
SMART Domains Protein: ENSMUSP00000101898
Gene: ENSMUSG00000078578

DomainStartEndE-ValueType
UBCc 4 147 1.61e-72 SMART
Predicted Effect probably null
Transcript: ENSMUST00000166033
SMART Domains Protein: ENSMUSP00000130096
Gene: ENSMUSG00000078578

DomainStartEndE-ValueType
UBCc 4 147 1.61e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196248
Predicted Effect probably null
Transcript: ENSMUST00000196446
SMART Domains Protein: ENSMUSP00000142974
Gene: ENSMUSG00000078578

DomainStartEndE-ValueType
UBCc 4 147 1.61e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196564
Predicted Effect probably benign
Transcript: ENSMUST00000196591
SMART Domains Protein: ENSMUSP00000143758
Gene: ENSMUSG00000078578

DomainStartEndE-ValueType
UBCc 4 73 8.5e-5 SMART
Predicted Effect probably null
Transcript: ENSMUST00000197134
SMART Domains Protein: ENSMUSP00000143606
Gene: ENSMUSG00000078578

DomainStartEndE-ValueType
UBCc 4 147 2.16e-73 SMART
Predicted Effect probably null
Transcript: ENSMUST00000197859
SMART Domains Protein: ENSMUSP00000143608
Gene: ENSMUSG00000078578

DomainStartEndE-ValueType
UBCc 4 147 1.61e-72 SMART
Predicted Effect probably null
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 null
Transcript: ENSMUST00000199613
SMART Domains Protein: ENSMUSP00000143301
Gene: ENSMUSG00000078578

DomainStartEndE-ValueType
UBCc 4 147 1.61e-72 SMART
Predicted Effect probably null
Transcript: ENSMUST00000197539
SMART Domains Protein: ENSMUSP00000143065
Gene: ENSMUSG00000078578

DomainStartEndE-ValueType
UBCc 4 147 1.61e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196878
Predicted Effect probably benign
Transcript: ENSMUST00000199582
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox3 G A 1: 58,211,007 (GRCm39) R917Q probably damaging Het
Atl1 T C 12: 70,002,141 (GRCm39) Y367H probably damaging Het
AW551984 T C 9: 39,511,062 (GRCm39) E175G possibly damaging Het
Cacna2d1 T A 5: 16,561,821 (GRCm39) D800E probably damaging Het
Cdon T A 9: 35,389,299 (GRCm39) F801L possibly damaging Het
Dcaf13 C T 15: 39,008,543 (GRCm39) Q382* probably null Het
Dpy19l3 T C 7: 35,411,633 (GRCm39) N367S possibly damaging Het
F11 A G 8: 45,714,111 (GRCm39) S3P possibly damaging Het
Fhip1b T C 7: 105,033,158 (GRCm39) E57G probably damaging Het
Fryl A T 5: 73,267,624 (GRCm39) probably benign Het
Gcnt3 A T 9: 69,941,695 (GRCm39) M291K possibly damaging Het
Glg1 T C 8: 111,889,412 (GRCm39) D927G probably damaging Het
Gm5862 C A 5: 26,224,510 (GRCm39) R153L probably damaging Het
Gucy2c T C 6: 136,742,628 (GRCm39) T237A probably benign Het
Helz A T 11: 107,510,973 (GRCm39) I610F probably damaging Het
Hpd T C 5: 123,310,108 (GRCm39) E372G probably damaging Het
Hsd17b13 A G 5: 104,124,964 (GRCm39) probably benign Het
Klhl32 G A 4: 24,649,533 (GRCm39) probably benign Het
Krt74 T A 15: 101,668,937 (GRCm39) noncoding transcript Het
Nopchap1 G A 10: 83,201,571 (GRCm39) V115M probably damaging Het
Or14a258 T A 7: 86,035,574 (GRCm39) Q98L probably damaging Het
Or9g4b T C 2: 85,616,053 (GRCm39) L66P probably damaging Het
Phyhipl A G 10: 70,401,109 (GRCm39) V163A possibly damaging Het
Pknox2 T A 9: 36,834,966 (GRCm39) T168S probably damaging Het
Pmfbp1 T C 8: 110,269,046 (GRCm39) probably benign Het
Sgce G A 6: 4,689,718 (GRCm39) R372* probably null Het
Stard5 T C 7: 83,285,980 (GRCm39) S102P possibly damaging Het
Syne2 A G 12: 76,121,360 (GRCm39) K5941R possibly damaging Het
Tas2r124 A T 6: 132,732,081 (GRCm39) H130L probably benign Het
Ttn T C 2: 76,546,027 (GRCm39) E32462G probably damaging Het
Tut4 T C 4: 108,415,974 (GRCm39) S1647P probably damaging Het
Vps13d G T 4: 144,835,145 (GRCm39) H1561Q possibly damaging Het
Other mutations in Ube2d3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03410:Ube2d3 APN 3 135,170,978 (GRCm39) missense probably damaging 1.00
R1772:Ube2d3 UTSW 3 135,170,972 (GRCm39) missense probably benign 0.02
R2047:Ube2d3 UTSW 3 135,170,967 (GRCm39) missense probably benign 0.01
R2210:Ube2d3 UTSW 3 135,168,802 (GRCm39) missense probably benign
R9381:Ube2d3 UTSW 3 135,168,722 (GRCm39) missense possibly damaging 0.88
Posted On 2016-08-02