Incidental Mutation 'IGL02474:Ube2t'
ID294858
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube2t
Ensembl Gene ENSMUSG00000026429
Gene Nameubiquitin-conjugating enzyme E2T
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.822) question?
Stock #IGL02474
Quality Score
Status
Chromosome1
Chromosomal Location134962565-134974162 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 134971341 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 21 (K21*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027687] [ENSMUST00000223886]
Predicted Effect probably null
Transcript: ENSMUST00000027687
AA Change: K91*
SMART Domains Protein: ENSMUSP00000027687
Gene: ENSMUSG00000026429
AA Change: K91*

DomainStartEndE-ValueType
UBCc 5 152 1.75e-50 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139617
Predicted Effect probably null
Transcript: ENSMUST00000188177
AA Change: K21*
Predicted Effect probably benign
Transcript: ENSMUST00000223886
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn A G 17: 13,818,229 E283G probably damaging Het
Ahnak A G 19: 9,004,933 I1194V probably benign Het
Aqr T A 2: 114,112,646 N1149Y probably damaging Het
Bms1 T C 6: 118,416,519 I131V probably benign Het
Cacna1s A C 1: 136,118,380 T1461P probably benign Het
Chrnb3 T C 8: 27,393,369 S113P probably damaging Het
Col1a2 C T 6: 4,516,398 R171C unknown Het
Cramp1l A G 17: 24,985,050 V318A probably damaging Het
Csf2ra A G 19: 61,226,537 V163A possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Ctnnd2 A G 15: 30,669,562 D439G possibly damaging Het
Dnah11 T A 12: 118,027,445 probably null Het
Dyrk4 C A 6: 126,880,231 C495F probably damaging Het
Gabra6 A G 11: 42,307,417 V402A probably benign Het
Gba2 T C 4: 43,568,538 M643V possibly damaging Het
Gbp9 A T 5: 105,094,567 probably benign Het
Ginm1 A G 10: 7,777,768 probably benign Het
Git1 T A 11: 77,503,391 D282E probably damaging Het
Gm5799 T C 14: 43,544,629 I86T probably damaging Het
Gm9894 T C 13: 67,765,094 noncoding transcript Het
Gng12 A G 6: 67,015,761 K4R probably benign Het
Hnrnpul1 A T 7: 25,726,757 D556E probably benign Het
Kat6b T A 14: 21,669,039 L1153Q possibly damaging Het
Ly75 A T 2: 60,383,182 L17Q probably null Het
Mc5r T C 18: 68,338,839 F90L probably damaging Het
Olfr1356 A T 10: 78,847,063 M284K probably damaging Het
Olfr175-ps1 A T 16: 58,824,656 S18T probably benign Het
Olfr524 T C 7: 140,202,587 Y61C probably damaging Het
Olfr54 C A 11: 51,027,365 A121D probably damaging Het
Olfr877 A T 9: 37,855,360 I181L probably benign Het
Pi4ka A T 16: 17,325,429 Y6N probably damaging Het
Polr2g C A 19: 8,798,456 probably null Het
Psme3 A G 11: 101,317,654 Q82R probably benign Het
Rab11a G T 9: 64,726,647 T17K possibly damaging Het
Rbm12 A T 2: 156,098,097 L85Q probably damaging Het
Skap1 A T 11: 96,708,686 Y188F probably damaging Het
Tmprss6 A T 15: 78,442,336 F34I probably damaging Het
Trip12 A C 1: 84,794,133 I98S probably benign Het
Ttn T C 2: 76,878,188 probably benign Het
Vmn1r216 T C 13: 23,099,477 V110A possibly damaging Het
Vmn2r109 A T 17: 20,540,888 F736I probably benign Het
Vps13c A G 9: 67,937,876 T2081A probably benign Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Other mutations in Ube2t
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02822:Ube2t APN 1 134973950 utr 3 prime probably benign
R0321:Ube2t UTSW 1 134967800 missense possibly damaging 0.53
R1728:Ube2t UTSW 1 134972167 missense probably benign 0.00
R1729:Ube2t UTSW 1 134972167 missense probably benign 0.00
R1730:Ube2t UTSW 1 134972167 missense probably benign 0.00
R1739:Ube2t UTSW 1 134972167 missense probably benign 0.00
R1762:Ube2t UTSW 1 134972167 missense probably benign 0.00
R1783:Ube2t UTSW 1 134972167 missense probably benign 0.00
R1784:Ube2t UTSW 1 134972167 missense probably benign 0.00
R1785:Ube2t UTSW 1 134972167 missense probably benign 0.00
R2010:Ube2t UTSW 1 134969298 missense probably benign 0.00
R6151:Ube2t UTSW 1 134967960 intron probably null
R6950:Ube2t UTSW 1 134971357 critical splice donor site probably null
R6989:Ube2t UTSW 1 134969295 missense probably damaging 0.97
Posted On2015-04-16