Incidental Mutation 'R8972:Ube2t'
ID 683141
Institutional Source Beutler Lab
Gene Symbol Ube2t
Ensembl Gene ENSMUSG00000026429
Gene Name ubiquitin-conjugating enzyme E2T
Synonyms 2700084L22Rik
MMRRC Submission 068806-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.860) question?
Stock # R8972 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 134890303-134901900 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 134899670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 106 (T106I)
Ref Sequence ENSEMBL: ENSMUSP00000027687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027687] [ENSMUST00000223886]
AlphaFold Q9CQ37
Predicted Effect probably damaging
Transcript: ENSMUST00000027687
AA Change: T106I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027687
Gene: ENSMUSG00000026429
AA Change: T106I

DomainStartEndE-ValueType
UBCc 5 152 1.75e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188177
Predicted Effect probably benign
Transcript: ENSMUST00000223886
Meta Mutation Damage Score 0.7551 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (70/71)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,278,138 (GRCm39) S3106F probably damaging Het
Acss1 G T 2: 150,484,809 (GRCm39) R145S probably damaging Het
Acss3 T C 10: 106,920,783 (GRCm39) Y109C probably damaging Het
Adgre4 G T 17: 56,109,189 (GRCm39) G399C probably damaging Het
Alpk1 A G 3: 127,473,232 (GRCm39) S924P probably damaging Het
Anapc4 T A 5: 53,007,884 (GRCm39) D382E possibly damaging Het
Arfgef2 C T 2: 166,709,253 (GRCm39) A1110V possibly damaging Het
Arhgap20 T C 9: 51,760,311 (GRCm39) F721L probably benign Het
Arhgef39 T C 4: 43,497,185 (GRCm39) S269G probably benign Het
Asap2 C T 12: 21,279,249 (GRCm39) T377M probably damaging Het
Baiap3 G T 17: 25,466,010 (GRCm39) A558E probably benign Het
Birc6 A C 17: 75,009,313 (GRCm39) T4862P probably benign Het
Cc2d2a A G 5: 43,867,884 (GRCm39) T843A probably benign Het
Ccdc187 A T 2: 26,171,079 (GRCm39) D466E probably benign Het
Ccdc88a T G 11: 29,435,888 (GRCm39) N1270K probably benign Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Cntn1 T G 15: 92,150,278 (GRCm39) Y371D probably benign Het
Cpsf1 T C 15: 76,481,528 (GRCm39) D1141G probably damaging Het
Crebbp C T 16: 3,925,935 (GRCm39) V1193I probably benign Het
Csf2ra A T 19: 61,213,597 (GRCm39) S371T probably null Het
Csf2rb2 T C 15: 78,172,115 (GRCm39) N432D probably benign Het
Cul9 A T 17: 46,854,177 (GRCm39) L175Q probably damaging Het
Dlc1 T A 8: 37,405,394 (GRCm39) R132* probably null Het
Dock5 C A 14: 68,013,749 (GRCm39) L1324F probably damaging Het
Dop1a T C 9: 86,403,300 (GRCm39) V36A possibly damaging Het
Fap A G 2: 62,378,927 (GRCm39) V158A probably benign Het
G2e3 T A 12: 51,410,277 (GRCm39) S319T possibly damaging Het
Gatd3a T C 10: 78,003,323 (GRCm39) I110V possibly damaging Het
Gphn T C 12: 78,656,013 (GRCm39) probably null Het
Gucy2g A G 19: 55,226,406 (GRCm39) I170T probably benign Het
Hmgxb4 T A 8: 75,748,466 (GRCm39) W438R probably damaging Het
Igkv14-126 G T 6: 67,873,329 (GRCm39) G19V probably damaging Het
Kansl1l C T 1: 66,812,101 (GRCm39) C506Y probably damaging Het
Kif2a T C 13: 107,115,543 (GRCm39) T321A probably damaging Het
Krtap6-5 C T 16: 88,844,607 (GRCm39) R42H unknown Het
Map4 T A 9: 109,864,185 (GRCm39) M470K probably benign Het
Mill1 T C 7: 17,996,982 (GRCm39) V191A probably benign Het
Mki67 C A 7: 135,297,364 (GRCm39) A2557S possibly damaging Het
Mkln1 A T 6: 31,473,681 (GRCm39) H669L probably damaging Het
Mrgprb3 A T 7: 48,293,422 (GRCm39) V43E possibly damaging Het
Mucl2 T A 15: 103,927,860 (GRCm39) probably null Het
Mybbp1a T A 11: 72,337,076 (GRCm39) I604N probably benign Het
Myo18b T C 5: 112,841,164 (GRCm39) T2210A probably benign Het
Nlrp4f T C 13: 65,330,749 (GRCm39) I881M probably benign Het
Obscn C A 11: 58,943,442 (GRCm39) A4236S probably benign Het
Or13a23-ps1 A T 7: 140,119,038 (GRCm39) M203L unknown Het
Or4a67 A C 2: 88,598,630 (GRCm39) F10V possibly damaging Het
Or8d1 A G 9: 38,767,254 (GRCm39) K299E probably damaging Het
Or8d2b G A 9: 38,789,150 (GRCm39) R226H probably benign Het
Phc3 T A 3: 31,015,926 (GRCm39) Q83L possibly damaging Het
Pira2 T C 7: 3,845,070 (GRCm39) Y396C probably damaging Het
Prss3 T A 6: 41,353,872 (GRCm39) I24F probably damaging Het
Psg21 T C 7: 18,381,293 (GRCm39) N417D probably benign Het
Ros1 G T 10: 51,999,333 (GRCm39) R1206S probably benign Het
Smg9 A T 7: 24,120,055 (GRCm39) Q386L probably benign Het
Sncb T A 13: 54,907,772 (GRCm39) probably null Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Sorl1 T A 9: 41,957,848 (GRCm39) I599F probably damaging Het
Sox6 C A 7: 115,076,218 (GRCm39) E807* probably null Het
Ssu2 G A 6: 112,360,898 (GRCm39) A53V probably benign Het
Tas2r123 T C 6: 132,824,333 (GRCm39) C77R probably benign Het
Tcta T C 9: 108,181,333 (GRCm39) R117G unknown Het
Tiam1 G A 16: 89,609,894 (GRCm39) A1038V probably damaging Het
Tram2 A T 1: 21,074,273 (GRCm39) probably benign Het
Tsku C A 7: 98,001,704 (GRCm39) R209L probably damaging Het
Twnk T C 19: 45,000,149 (GRCm39) F622L probably damaging Het
Usf1 C T 1: 171,245,352 (GRCm39) R255W probably damaging Het
Usp28 T A 9: 48,949,124 (GRCm39) L906Q probably null Het
Vmn2r31 T A 7: 7,399,654 (GRCm39) Y101F probably benign Het
Vmn2r42 A G 7: 8,187,331 (GRCm39) S814P probably damaging Het
Wnt2b T C 3: 104,858,475 (GRCm39) R265G possibly damaging Het
Zfp62 T G 11: 49,106,892 (GRCm39) S328A possibly damaging Het
Zfp974 T C 7: 27,610,589 (GRCm39) I379V probably benign Het
Zmynd15 T C 11: 70,355,065 (GRCm39) V484A possibly damaging Het
Zzef1 T C 11: 72,791,499 (GRCm39) L2201P probably 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
R0321:Ube2t UTSW 1 134,895,538 (GRCm39) missense possibly damaging 0.53
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
R8995:Ube2t UTSW 1 134,899,658 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GTCCTTAGGTTACATACAATGTCAC -3'
(R):5'- CTGCTTGGCTTTCTTGAGAAAAGC -3'

Sequencing Primer
(F):5'- TTGAGACAGTTTCACCTAGCCAAG -3'
(R):5'- GGCTTTCTTGAGAAAAGCTATCTTG -3'
Posted On 2021-10-11