Incidental Mutation 'IGL02822:Ube2t'
ID361071
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: 0.798) question?
Stock #IGL02822
Quality Score
Status
Chromosome1
Chromosomal Location134962565-134974162 bp(+) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) C to T at 134973950 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152910 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027687] [ENSMUST00000223886]
Predicted Effect probably benign
Transcript: ENSMUST00000027687
SMART Domains Protein: ENSMUSP00000027687
Gene: ENSMUSG00000026429

DomainStartEndE-ValueType
UBCc 5 152 1.75e-50 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139617
Predicted Effect probably benign
Transcript: ENSMUST00000188177
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T C 16: 89,174,795 C2R unknown Het
4931428F04Rik T C 8: 105,284,698 Y268C probably damaging Het
Aldh1a7 A G 19: 20,702,266 V382A possibly damaging Het
Asap2 T C 12: 21,265,910 V943A probably damaging Het
Bod1l C T 5: 41,794,345 V2908M possibly damaging Het
Casd1 C T 6: 4,630,017 T471I probably damaging Het
Col20a1 T C 2: 180,996,807 Y405H probably damaging Het
Evi5l T C 8: 4,187,248 I117T probably damaging Het
Fbxw5 A G 2: 25,503,010 N164S probably benign Het
Fga A G 3: 83,031,482 E388G probably damaging Het
Fgfr1 A G 8: 25,557,802 T55A probably benign Het
Gdpd4 T C 7: 97,971,924 V148A possibly damaging Het
Gm15448 T A 7: 3,816,918 T549S possibly damaging Het
Gm609 T C 16: 45,442,605 Y57C probably damaging Het
Gsap T A 5: 21,217,444 V137D probably damaging Het
Hsdl2 A G 4: 59,601,379 H117R possibly damaging Het
Htr4 T A 18: 62,428,184 probably benign Het
Ifitm1 T C 7: 140,968,278 V8A possibly damaging Het
Ikbkap A G 4: 56,774,520 probably null Het
Kdelr1 A G 7: 45,873,864 probably benign Het
Klra6 G T 6: 130,016,710 Y199* probably null Het
Mmp21 C T 7: 133,676,099 D333N possibly damaging Het
Mocs1 T C 17: 49,439,569 F189S probably damaging Het
Myo18b C T 5: 112,775,345 A1849T probably damaging Het
Naca C A 10: 128,039,345 probably benign Het
Nbea A T 3: 56,019,447 H778Q possibly damaging Het
Nlrp4c C T 7: 6,065,727 P209L probably damaging Het
Olfr125 T C 17: 37,835,643 Y215H possibly damaging Het
Olfr1254 A G 2: 89,789,100 L84P possibly damaging Het
Olfr1491 A G 19: 13,705,655 D276G probably benign Het
Osbpl9 A G 4: 109,072,921 S258P probably damaging Het
Pclaf A G 9: 65,901,593 E108G possibly damaging Het
Pla2r1 C A 2: 60,455,173 C699F probably damaging Het
Pnkp A G 7: 44,862,424 Y120C probably damaging Het
Psme4 T A 11: 30,848,204 probably benign Het
Rad54l2 A G 9: 106,710,407 S720P probably damaging Het
Rasa1 T C 13: 85,252,514 H301R probably damaging Het
Spg11 C A 2: 122,074,534 W1316L probably damaging Het
Vmn2r94 T A 17: 18,243,620 I803F probably benign Het
Other mutations in Ube2t
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02474:Ube2t APN 1 134971341 nonsense probably null
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 On2015-12-18