Incidental Mutation 'IGL01619:Ube2c'
ID92518
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube2c
Ensembl Gene ENSMUSG00000001403
Gene Nameubiquitin-conjugating enzyme E2C
Synonyms1110015A16Rik, D2Ertd695e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01619
Quality Score
Status
Chromosome2
Chromosomal Location164769898-164778822 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 164771312 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 50 (I50T)
Ref Sequence ENSEMBL: ENSMUSP00000085581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001439] [ENSMUST00000017443] [ENSMUST00000088248]
Predicted Effect probably damaging
Transcript: ENSMUST00000001439
AA Change: I50T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001439
Gene: ENSMUSG00000001403
AA Change: I50T

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 damaging
Transcript: ENSMUST00000088248
AA Change: I50T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085581
Gene: ENSMUSG00000001403
AA Change: I50T

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd46 T C 15: 36,485,967 T47A possibly damaging Het
Asxl3 T G 18: 22,523,328 V1465G probably damaging Het
Celsr3 A G 9: 108,837,404 H1995R probably benign Het
Celsr3 A T 9: 108,834,557 D1657V probably damaging Het
Cntn6 G A 6: 104,728,374 probably benign Het
Def6 C T 17: 28,207,864 L8F probably damaging Het
Dnah9 T A 11: 65,831,615 K1940* probably null Het
Dock10 A G 1: 80,634,298 probably benign Het
Fam166b G A 4: 43,427,814 T170I possibly damaging Het
Fam72a A G 1: 131,533,912 I112V probably benign Het
Fgl1 A T 8: 41,196,971 W258R probably damaging Het
Ints6l G T X: 56,496,744 probably benign Het
Lifr A T 15: 7,191,162 N1091I probably damaging Het
Mga T C 2: 119,931,828 I1100T possibly damaging Het
Mrpl40 T A 16: 18,872,544 M139L probably benign Het
Myom1 T C 17: 71,044,476 probably benign Het
Olfr164 T A 16: 19,286,159 T195S probably damaging Het
Pcdhb5 T C 18: 37,322,939 F791L probably damaging Het
Prss29 T C 17: 25,321,139 probably null Het
Ranbp2 A G 10: 58,464,078 probably null Het
Serpinb9e A G 13: 33,255,125 K178R probably damaging Het
Shtn1 A G 19: 59,028,169 S233P probably damaging Het
Smpd1 G A 7: 105,555,342 V143M possibly damaging Het
Terb1 G A 8: 104,473,014 H433Y probably benign Het
Traf6 C T 2: 101,690,098 Q164* probably null Het
Trip12 C A 1: 84,814,910 R4L probably damaging Het
Ttn G A 2: 76,863,535 P208S possibly damaging Het
Uggt1 T C 1: 36,161,694 D1174G probably damaging Het
Vmn2r121 T G X: 124,132,300 M387L probably benign Het
Vmn2r18 T A 5: 151,586,764 N48I probably benign Het
Zc3h15 T C 2: 83,660,173 L217P probably damaging Het
Zyg11a T A 4: 108,205,217 E129V probably damaging Het
Other mutations in Ube2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00471:Ube2c APN 2 164771293 missense probably benign 0.00
R1726:Ube2c UTSW 2 164771317 missense probably damaging 1.00
R1748:Ube2c UTSW 2 164771321 missense probably damaging 1.00
R1854:Ube2c UTSW 2 164771362 missense probably damaging 0.99
R1864:Ube2c UTSW 2 164770023 missense probably benign 0.13
R4624:Ube2c UTSW 2 164772173 missense possibly damaging 0.73
R4627:Ube2c UTSW 2 164772173 missense possibly damaging 0.73
R4628:Ube2c UTSW 2 164772173 missense possibly damaging 0.73
R4629:Ube2c UTSW 2 164772173 missense possibly damaging 0.73
R4810:Ube2c UTSW 2 164772562 makesense probably null
R5294:Ube2c UTSW 2 164777190 missense probably benign
R7763:Ube2c UTSW 2 164771291 critical splice acceptor site probably null
Posted On2013-12-09