Incidental Mutation 'R0321:Ube2t'
ID 35833
Institutional Source Beutler Lab
Gene Symbol Ube2t
Ensembl Gene ENSMUSG00000026429
Gene Name ubiquitin-conjugating enzyme E2T
Synonyms 2700084L22Rik
MMRRC Submission 038531-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.860) question?
Stock # R0321 (G1)
Quality Score 158
Status Validated
Chromosome 1
Chromosomal Location 134890303-134901900 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 134895538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 4 (A4V)
Ref Sequence ENSEMBL: ENSMUSP00000152910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027687] [ENSMUST00000223886]
AlphaFold Q9CQ37
Predicted Effect probably benign
Transcript: ENSMUST00000027687
AA Change: A4V

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000027687
Gene: ENSMUSG00000026429
AA Change: A4V

DomainStartEndE-ValueType
UBCc 5 152 1.75e-50 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185369
Predicted Effect probably benign
Transcript: ENSMUST00000188177
Predicted Effect possibly damaging
Transcript: ENSMUST00000223886
AA Change: A4V

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
Meta Mutation Damage Score 0.0656 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.7%
Validation Efficiency 100% (79/79)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the covalent attachment of ubiquitin to protein substrates. Defects in this gene have been associated with Fanconi anemia of complementation group T. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,314,620 (GRCm39) T353A probably benign Het
4933402N03Rik T A 7: 130,747,956 (GRCm39) Y12F probably benign Het
Acbd3 T G 1: 180,579,870 (GRCm39) F505V probably damaging Het
Acod1 T C 14: 103,292,565 (GRCm39) V363A probably benign Het
Adam28 T C 14: 68,855,200 (GRCm39) Q647R probably damaging Het
Akr1c18 T A 13: 4,185,243 (GRCm39) L296F probably damaging Het
Ap1b1 G A 11: 4,982,464 (GRCm39) A588T probably benign Het
Armc8 A T 9: 99,415,230 (GRCm39) I150K probably damaging Het
Bahcc1 T C 11: 120,164,251 (GRCm39) probably null Het
Bltp1 T C 3: 36,960,937 (GRCm39) probably null Het
Carmil3 C A 14: 55,739,698 (GRCm39) D928E possibly damaging Het
Ccrl2 T C 9: 110,885,279 (GRCm39) N73S probably damaging Het
Cdk9 C A 2: 32,602,698 (GRCm39) probably benign Het
Cel G T 2: 28,451,160 (GRCm39) Q66K probably benign Het
D930028M14Rik T A 7: 24,854,991 (GRCm39) noncoding transcript Het
Dgka G C 10: 128,556,952 (GRCm39) probably benign Het
Dlg1 T C 16: 31,676,854 (GRCm39) V801A probably damaging Het
Dnah10 A G 5: 124,900,416 (GRCm39) D3834G probably benign Het
Dnajc15 C T 14: 78,112,273 (GRCm39) A23T possibly damaging Het
Ell2 T A 13: 75,910,007 (GRCm39) L119Q probably damaging Het
Epha2 T C 4: 141,035,716 (GRCm39) W51R probably damaging Het
F10 T C 8: 13,103,413 (GRCm39) F266L possibly damaging Het
Fam110a T C 2: 151,812,587 (GRCm39) N61S probably benign Het
Fam83c C T 2: 155,671,620 (GRCm39) S605N probably benign Het
Fbxw15 C T 9: 109,394,453 (GRCm39) V121I probably benign Het
Gart G A 16: 91,419,925 (GRCm39) probably benign Het
Gfi1b A G 2: 28,503,897 (GRCm39) F101S probably damaging Het
Gimap5 C G 6: 48,727,449 (GRCm39) probably benign Het
Gpr180 T C 14: 118,385,699 (GRCm39) probably null Het
Gsn T C 2: 35,180,408 (GRCm39) F188L probably benign Het
Hivep3 T A 4: 119,952,788 (GRCm39) I368N possibly damaging Het
Itih3 T A 14: 30,634,063 (GRCm39) I153F probably damaging Het
Kdm8 A T 7: 125,060,178 (GRCm39) Q360L probably damaging Het
Lars1 T C 18: 42,335,697 (GRCm39) K1140E probably damaging Het
Mocs1 A G 17: 49,740,286 (GRCm39) Y71C probably damaging Het
Mroh5 C T 15: 73,661,892 (GRCm39) G433E probably damaging Het
Mrpl45 T A 11: 97,217,764 (GRCm39) probably benign Het
Mtcl1 T A 17: 66,686,426 (GRCm39) T827S probably damaging Het
Muc5b T C 7: 141,415,972 (GRCm39) S2973P probably benign Het
Mynn T C 3: 30,661,706 (GRCm39) S263P probably benign Het
Myo1f A C 17: 33,811,986 (GRCm39) D595A probably benign Het
Necab1 A T 4: 14,960,083 (GRCm39) I288N probably damaging Het
Nutm2 T G 13: 50,626,991 (GRCm39) M382R probably damaging Het
Oprm1 T C 10: 6,779,183 (GRCm39) S131P probably damaging Het
Pcsk9 A G 4: 106,301,891 (GRCm39) S619P probably benign Het
Phkg1 A T 5: 129,898,365 (GRCm39) M1K probably null Het
Pigc C T 1: 161,798,668 (GRCm39) Q217* probably null Het
Pik3r4 T A 9: 105,525,906 (GRCm39) F259I probably damaging Het
Pkdcc A T 17: 83,529,541 (GRCm39) probably benign Het
Pnpla5 G T 15: 84,004,920 (GRCm39) L144M probably damaging Het
Prtg A T 9: 72,755,307 (GRCm39) I259F possibly damaging Het
Prune2 T G 19: 17,098,291 (GRCm39) L1265R possibly damaging Het
Prune2 C T 19: 17,099,818 (GRCm39) A1774V probably benign Het
Rcn3 A G 7: 44,738,139 (GRCm39) probably benign Het
Rnf213 C T 11: 119,328,931 (GRCm39) Q2067* probably null Het
Sec14l1 T A 11: 117,041,568 (GRCm39) probably benign Het
Serpinb3a C T 1: 106,975,212 (GRCm39) W198* probably null Het
Smpdl3b A T 4: 132,468,755 (GRCm39) V154E probably damaging Het
Spag17 T C 3: 100,008,719 (GRCm39) S1950P probably damaging Het
Sprr1a T C 3: 92,391,609 (GRCm39) T131A probably benign Het
Tatdn2 T G 6: 113,686,462 (GRCm39) L690W probably damaging Het
Tbc1d1 T C 5: 64,496,937 (GRCm39) F864L probably damaging Het
Tmem8b C A 4: 43,674,444 (GRCm39) R243S probably damaging Het
Tnfrsf11a T A 1: 105,772,583 (GRCm39) C623* probably null Het
Tprg1l T C 4: 154,243,812 (GRCm39) N115D probably damaging Het
Vps41 G A 13: 19,026,465 (GRCm39) probably benign Het
Wdr17 C T 8: 55,149,303 (GRCm39) probably null Het
Wwc1 G A 11: 35,732,637 (GRCm39) Q1024* probably null Het
Zfand5 T A 19: 21,253,879 (GRCm39) N27K probably damaging Het
Zfp142 A T 1: 74,608,873 (GRCm39) C1641S probably damaging Het
Zfyve16 A G 13: 92,629,042 (GRCm39) I1465T probably damaging Het
Zswim1 G A 2: 164,667,947 (GRCm39) G400S probably benign Het
Zswim3 C T 2: 164,662,279 (GRCm39) A253V possibly damaging Het
Other mutations in Ube2t
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02474:Ube2t APN 1 134,899,079 (GRCm39) nonsense probably null
IGL02822:Ube2t APN 1 134,901,688 (GRCm39) utr 3 prime probably benign
R1728:Ube2t UTSW 1 134,899,905 (GRCm39) missense probably benign 0.00
R1729:Ube2t UTSW 1 134,899,905 (GRCm39) missense probably benign 0.00
R1730:Ube2t UTSW 1 134,899,905 (GRCm39) missense probably benign 0.00
R1739:Ube2t UTSW 1 134,899,905 (GRCm39) missense probably benign 0.00
R1762:Ube2t UTSW 1 134,899,905 (GRCm39) missense probably benign 0.00
R1783:Ube2t UTSW 1 134,899,905 (GRCm39) missense probably benign 0.00
R1784:Ube2t UTSW 1 134,899,905 (GRCm39) missense probably benign 0.00
R1785:Ube2t UTSW 1 134,899,905 (GRCm39) missense probably benign 0.00
R2010:Ube2t UTSW 1 134,897,036 (GRCm39) missense probably benign 0.00
R6151:Ube2t UTSW 1 134,895,698 (GRCm39) splice site probably null
R6950:Ube2t UTSW 1 134,899,095 (GRCm39) critical splice donor site probably null
R6989:Ube2t UTSW 1 134,897,033 (GRCm39) missense probably damaging 0.97
R8972:Ube2t UTSW 1 134,899,670 (GRCm39) missense probably damaging 1.00
R8995:Ube2t UTSW 1 134,899,658 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GGAAAAGTCAGGCTCCCTTTGTCA -3'
(R):5'- AGAAGTCAATTAGGAAACGCCAAGCA -3'

Sequencing Primer
(F):5'- GCTCCCTTTGTCACAGAGAG -3'
(R):5'- AGCAACCCAACTAAGGAAGAG -3'
Posted On 2013-05-09