Incidental Mutation 'IGL00471:Ube2c'
ID 6973
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube2c
Ensembl Gene ENSMUSG00000001403
Gene Name ubiquitin-conjugating enzyme E2C
Synonyms 1110015A16Rik, D2Ertd695e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00471
Quality Score
Status
Chromosome 2
Chromosomal Location 164611849-164614822 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 164613213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 44 (T44A)
Ref Sequence ENSEMBL: ENSMUSP00000001439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001439] [ENSMUST00000017443] [ENSMUST00000088248]
AlphaFold Q9D1C1
Predicted Effect probably benign
Transcript: ENSMUST00000001439
AA Change: T44A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000001439
Gene: ENSMUSG00000001403
AA Change: T44A

DomainStartEndE-ValueType
low complexity region 9 16 N/A INTRINSIC
UBCc 33 170 8.8e-56 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000017443
SMART Domains Protein: ENSMUSP00000017443
Gene: ENSMUSG00000017299

DomainStartEndE-ValueType
low complexity region 10 30 N/A INTRINSIC
Blast:UBCc 91 157 4e-16 BLAST
low complexity region 158 172 N/A INTRINSIC
Blast:UBCc 248 287 1e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000088248
AA Change: T44A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000085581
Gene: ENSMUSG00000001403
AA Change: T44A

DomainStartEndE-ValueType
low complexity region 9 16 N/A INTRINSIC
UBCc 33 175 1.88e-64 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124435
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146846
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is required for the destruction of mitotic cyclins and for cell cycle progression, and may be involved in cancer progression. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been defined on chromosomes 4, 14, 15, 18, and 19. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,657,661 (GRCm39) V2793A probably damaging Het
Agbl2 A G 2: 90,631,389 (GRCm39) Y249C probably damaging Het
Anks1 T C 17: 28,277,390 (GRCm39) S1082P possibly damaging Het
Barhl2 C T 5: 106,603,365 (GRCm39) A265T possibly damaging Het
C4b T G 17: 34,953,403 (GRCm39) T1027P probably damaging Het
Clec4d A T 6: 123,251,732 (GRCm39) I205F probably damaging Het
Cpeb2 A T 5: 43,443,174 (GRCm39) Y955F probably damaging Het
Cst13 T A 2: 148,672,224 (GRCm39) M133K probably damaging Het
Dnah10 T C 5: 124,871,405 (GRCm39) L2418P probably damaging Het
Gli3 T C 13: 15,898,354 (GRCm39) probably null Het
Hgfac C A 5: 35,203,870 (GRCm39) H463N probably damaging Het
Hlx A T 1: 184,463,792 (GRCm39) F183I probably damaging Het
Ighv1-5 T G 12: 114,477,093 (GRCm39) I70L probably benign Het
Ltbp2 T C 12: 84,837,838 (GRCm39) T1181A probably damaging Het
Morn1 A C 4: 155,176,785 (GRCm39) K140Q possibly damaging Het
Nek1 A T 8: 61,496,318 (GRCm39) M358L probably benign Het
Pcbd2 C T 13: 55,924,413 (GRCm39) probably benign Het
Pramel7 A T 2: 87,321,429 (GRCm39) L202Q probably damaging Het
Shq1 A G 6: 100,641,444 (GRCm39) S146P probably benign Het
Slc25a21 T C 12: 56,764,922 (GRCm39) probably null Het
Slc26a7 A T 4: 14,548,403 (GRCm39) probably benign Het
Sspo G A 6: 48,475,147 (GRCm39) probably benign Het
Stam2 T C 2: 52,610,947 (GRCm39) D25G probably damaging Het
Tbx18 A T 9: 87,587,676 (GRCm39) D480E possibly damaging Het
Tmem26 A T 10: 68,614,511 (GRCm39) I309F possibly damaging Het
Other mutations in Ube2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01619:Ube2c APN 2 164,613,232 (GRCm39) missense probably damaging 1.00
R1726:Ube2c UTSW 2 164,613,237 (GRCm39) missense probably damaging 1.00
R1748:Ube2c UTSW 2 164,613,241 (GRCm39) missense probably damaging 1.00
R1854:Ube2c UTSW 2 164,613,282 (GRCm39) missense probably damaging 0.99
R1864:Ube2c UTSW 2 164,611,943 (GRCm39) missense probably benign 0.13
R4624:Ube2c UTSW 2 164,614,093 (GRCm39) missense possibly damaging 0.73
R4627:Ube2c UTSW 2 164,614,093 (GRCm39) missense possibly damaging 0.73
R4628:Ube2c UTSW 2 164,614,093 (GRCm39) missense possibly damaging 0.73
R4629:Ube2c UTSW 2 164,614,093 (GRCm39) missense possibly damaging 0.73
R4810:Ube2c UTSW 2 164,614,482 (GRCm39) makesense probably null
R5294:Ube2c UTSW 2 164,619,110 (GRCm39) missense probably benign
R7763:Ube2c UTSW 2 164,613,211 (GRCm39) critical splice acceptor site probably null
Posted On 2012-04-20