Incidental Mutation 'R5434:Ube3d'
ID 428216
Institutional Source Beutler Lab
Gene Symbol Ube3d
Ensembl Gene ENSMUSG00000032415
Gene Name ubiquitin protein ligase E3D
Synonyms 2610018I03Rik, Ube2cbp
MMRRC Submission 042999-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.861) question?
Stock # R5434 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 86189364-86347003 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86309460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 212 (I212N)
Ref Sequence ENSEMBL: ENSMUSP00000034986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034986] [ENSMUST00000121189]
AlphaFold Q8BX13
Predicted Effect possibly damaging
Transcript: ENSMUST00000034986
AA Change: I212N

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034986
Gene: ENSMUSG00000032415
AA Change: I212N

DomainStartEndE-ValueType
Pfam:HECT_2 13 364 1e-104 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121189
SMART Domains Protein: ENSMUSP00000113549
Gene: ENSMUSG00000032415

DomainStartEndE-ValueType
Pfam:HECT_2 13 364 2.6e-80 PFAM
Meta Mutation Damage Score 0.2866 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (57/57)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele cannot be obtained. Heterozygotes exhibit abnormal retinal pigment epithelium morphology and decreased a- and b-wave amplitude. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl6 G T 9: 20,786,821 (GRCm39) Q301K probably damaging Het
Ankfn1 T C 11: 89,344,013 (GRCm39) Y323C probably damaging Het
Arid5b T A 10: 67,932,719 (GRCm39) H818L possibly damaging Het
Atg13 G T 2: 91,515,110 (GRCm39) probably null Het
Bltp1 A C 3: 36,929,665 (GRCm39) D94A probably damaging Het
Bop1 T C 15: 76,339,611 (GRCm39) M245V probably benign Het
Ces2a T A 8: 105,464,041 (GRCm39) F224L probably damaging Het
Cntnap5b A G 1: 99,999,926 (GRCm39) H228R probably benign Het
Col9a2 A T 4: 120,898,162 (GRCm39) R25* probably null Het
Dcaf12 G T 4: 41,302,744 (GRCm39) T137N probably benign Het
Dennd4c A G 4: 86,729,693 (GRCm39) N765S probably benign Het
Dnah12 A G 14: 26,581,256 (GRCm39) Y3162C probably damaging Het
Dpf1 G T 7: 29,010,756 (GRCm39) C123F possibly damaging Het
Flvcr1 C A 1: 190,758,206 (GRCm39) A29S probably benign Het
Frmd3 A T 4: 74,106,033 (GRCm39) I560F probably damaging Het
Galnt15 G A 14: 31,771,800 (GRCm39) V282I possibly damaging Het
Gm14412 A T 2: 177,006,405 (GRCm39) C497S probably damaging Het
Gm20830 A T Y: 6,916,464 (GRCm39) Y218* probably null Het
Hmcn2 C A 2: 31,310,375 (GRCm39) T3323N probably damaging Het
Idh1 T A 1: 65,214,495 (GRCm39) Q6L probably benign Het
Kansl2-ps A G 7: 72,322,813 (GRCm39) noncoding transcript Het
Kcnj10 T A 1: 172,197,047 (GRCm39) V187E probably damaging Het
Khnyn A G 14: 56,124,957 (GRCm39) T404A probably damaging Het
Lrp1b T A 2: 41,660,880 (GRCm39) N76I probably damaging Het
Lrrc9 G A 12: 72,500,862 (GRCm39) C196Y probably damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Mgp T A 6: 136,849,772 (GRCm39) N62I probably benign Het
Ms4a6c T A 19: 11,448,588 (GRCm39) H40Q probably benign Het
Necab3 A G 2: 154,389,379 (GRCm39) S121P probably damaging Het
Nfkb1 T A 3: 135,332,372 (GRCm39) K128* probably null Het
Nr4a3 A T 4: 48,067,861 (GRCm39) R486W probably damaging Het
Nwd2 A G 5: 63,964,991 (GRCm39) K1525R probably benign Het
Odad2 T C 18: 7,222,550 (GRCm39) K573R probably benign Het
Pbrm1 G T 14: 30,806,968 (GRCm39) D1085Y probably damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rbm15 A G 3: 107,237,783 (GRCm39) S872P possibly damaging Het
Retsat A G 6: 72,578,518 (GRCm39) I77V probably damaging Het
Rpl32 A G 6: 115,783,996 (GRCm39) F77L probably benign Het
Ryr3 A T 2: 112,624,814 (GRCm39) V2202D probably damaging Het
Sars2 G A 7: 28,449,716 (GRCm39) R387Q probably null Het
Serpinb3d G T 1: 107,006,263 (GRCm39) T275N probably benign Het
Sf3a1 C A 11: 4,124,041 (GRCm39) P296Q probably damaging Het
Sh3bgr A G 16: 96,025,744 (GRCm39) probably benign Het
St3gal3 A G 4: 117,797,247 (GRCm39) L332P probably damaging Het
Ston1 A G 17: 88,952,739 (GRCm39) probably benign Het
Syne2 T A 12: 76,018,649 (GRCm39) S3383T probably damaging Het
Tektl1 A T 10: 78,584,484 (GRCm39) L346* probably null Het
Tnfsf14 A G 17: 57,499,592 (GRCm39) S87P probably benign Het
Trap1 T C 16: 3,862,529 (GRCm39) D583G probably benign Het
Usp34 T A 11: 23,362,271 (GRCm39) D1572E probably damaging Het
Vmn1r179 A T 7: 23,628,387 (GRCm39) T193S probably benign Het
Vmn2r111 C A 17: 22,767,470 (GRCm39) V676L probably damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Wls C T 3: 159,639,976 (GRCm39) R536C probably damaging Het
Zfhx3 A G 8: 109,519,031 (GRCm39) D51G probably damaging Het
Other mutations in Ube3d
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0653:Ube3d UTSW 9 86,334,043 (GRCm39) missense possibly damaging 0.95
R1163:Ube3d UTSW 9 86,322,648 (GRCm39) missense probably benign 0.00
R1928:Ube3d UTSW 9 86,305,056 (GRCm39) missense probably damaging 1.00
R1938:Ube3d UTSW 9 86,330,840 (GRCm39) missense probably damaging 1.00
R2131:Ube3d UTSW 9 86,254,540 (GRCm39) splice site probably null
R2760:Ube3d UTSW 9 86,305,027 (GRCm39) missense probably benign 0.00
R4916:Ube3d UTSW 9 86,304,925 (GRCm39) missense probably damaging 1.00
R5804:Ube3d UTSW 9 86,307,401 (GRCm39) missense probably benign 0.01
R5827:Ube3d UTSW 9 86,254,489 (GRCm39) missense possibly damaging 0.95
R5936:Ube3d UTSW 9 86,254,512 (GRCm39) missense probably benign 0.00
R7275:Ube3d UTSW 9 86,322,679 (GRCm39) missense probably damaging 1.00
R7507:Ube3d UTSW 9 86,304,939 (GRCm39) missense possibly damaging 0.95
R7533:Ube3d UTSW 9 86,304,990 (GRCm39) missense probably damaging 0.98
R7787:Ube3d UTSW 9 86,254,395 (GRCm39) missense possibly damaging 0.79
R9252:Ube3d UTSW 9 86,254,501 (GRCm39) missense probably damaging 1.00
R9506:Ube3d UTSW 9 86,330,825 (GRCm39) missense probably damaging 0.96
X0019:Ube3d UTSW 9 86,304,941 (GRCm39) missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- GCAAGAAATAGGTCTTCAAGTTGTG -3'
(R):5'- GAGTTTGGAGCTCTCTTGAACAAAG -3'

Sequencing Primer
(F):5'- AAATAGGTCTTCAAGTTGTGTATGTG -3'
(R):5'- GCTCTCTTGAACAAAGATGAAGTGAC -3'
Posted On 2016-09-01