Incidental Mutation 'IGL02866:Ubc'
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ID362331
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubc
Ensembl Gene ENSMUSG00000008348
Gene Nameubiquitin C
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02866
Quality Score
Status
Chromosome5
Chromosomal Location125385965-125390202 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 125387422 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 280 (D280E)
Ref Sequence ENSEMBL: ENSMUSP00000115578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100700] [ENSMUST00000108707] [ENSMUST00000136312] [ENSMUST00000156249]
Predicted Effect probably benign
Transcript: ENSMUST00000100700
SMART Domains Protein: ENSMUSP00000098265
Gene: ENSMUSG00000072612

DomainStartEndE-ValueType
low complexity region 34 71 N/A INTRINSIC
low complexity region 79 95 N/A INTRINSIC
low complexity region 125 144 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108707
SMART Domains Protein: ENSMUSP00000104347
Gene: ENSMUSG00000008348

DomainStartEndE-ValueType
UBQ 1 72 2.14e-36 SMART
UBQ 77 148 2.14e-36 SMART
UBQ 153 201 1.42e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136312
AA Change: D280E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114180
Gene: ENSMUSG00000008348
AA Change: D280E

DomainStartEndE-ValueType
UBQ 1 72 2.14e-36 SMART
UBQ 77 148 2.14e-36 SMART
UBQ 153 224 2.14e-36 SMART
UBQ 229 300 2.14e-36 SMART
UBQ 305 376 2.14e-36 SMART
UBQ 381 452 2.14e-36 SMART
UBQ 457 528 2.14e-36 SMART
UBQ 533 604 2.14e-36 SMART
UBQ 609 680 2.14e-36 SMART
PDB:4MDK|H 684 711 9e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000156249
AA Change: D280E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115578
Gene: ENSMUSG00000008348
AA Change: D280E

DomainStartEndE-ValueType
UBQ 1 72 2.14e-36 SMART
UBQ 77 148 2.14e-36 SMART
UBQ 153 224 2.14e-36 SMART
UBQ 229 300 2.14e-36 SMART
UBQ 305 376 2.14e-36 SMART
UBQ 381 452 2.14e-36 SMART
UBQ 457 528 2.14e-36 SMART
UBQ 533 604 2.14e-36 SMART
UBQ 609 680 2.14e-36 SMART
PDB:4MDK|H 684 711 9e-6 PDB
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene represents a ubiquitin gene, ubiquitin C. The encoded protein is a polyubiquitin precursor. Conjugation of ubiquitin monomers or polymers can lead to various effects within a cell, depending on the residues to which ubiquitin is conjugated. Ubiquitination has been associated with protein degradation, DNA repair, cell cycle regulation, kinase modification, endocytosis, and regulation of other cell signaling pathways. [provided by RefSeq, Aug 2010]
PHENOTYPE: Homozygous null embryos die between E 12.5 and E14.5 most likely due to a severe defect in liver cell proliferation. Mutant MEFs exhibit reduced growth rates, premature senescence, increased apoptosis and delayed cell-cycle progression, and are hypersensitive to proteasome inhibitors and heat shock. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A T 18: 59,048,842 M1118L possibly damaging Het
Ckmt2 A T 13: 91,858,281 L315* probably null Het
Dusp28 T A 1: 92,907,656 I154N probably benign Het
Ect2l A T 10: 18,159,817 I420N probably damaging Het
Erap1 C A 13: 74,667,999 N82K probably damaging Het
Gsdma3 A G 11: 98,629,759 D72G possibly damaging Het
Hectd1 T A 12: 51,790,613 S720C probably damaging Het
Jakmip2 T G 18: 43,552,201 E674A probably benign Het
Kcnt2 T C 1: 140,425,248 S232P probably damaging Het
Kmo T C 1: 175,653,588 S291P probably damaging Het
Kpnb1 A G 11: 97,177,286 V286A probably damaging Het
Ldah T A 12: 8,238,602 V83D probably benign Het
Mrgprb5 T A 7: 48,168,166 I274F probably damaging Het
Mum1l1 T C X: 139,235,004 V97A probably benign Het
Mycbp2 A G 14: 103,129,992 I988T probably damaging Het
Myh3 A G 11: 67,089,023 E596G probably benign Het
Ndufs1 T C 1: 63,147,141 I52V probably benign Het
Nhsl1 G T 10: 18,527,607 D1363Y probably damaging Het
Olfr1450 A G 19: 12,954,355 I255M possibly damaging Het
Olfr295 T A 7: 86,585,693 C139* probably null Het
Olfr585 C A 7: 103,098,383 T214K probably damaging Het
Olfr798 A C 10: 129,625,706 Y118* probably null Het
Pcdhb19 T C 18: 37,499,110 S653P possibly damaging Het
Plcb3 A G 19: 6,957,676 L869P probably damaging Het
Prkdc T A 16: 15,831,327 F3722I probably damaging Het
Ptprd T C 4: 76,050,437 K206R probably damaging Het
Robo3 C A 9: 37,422,306 R703L possibly damaging Het
Tob1 A T 11: 94,214,057 M140L possibly damaging Het
Wasf3 C A 5: 146,468,321 Q364K probably benign Het
Other mutations in Ubc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02225:Ubc APN 5 125386133 missense probably benign 0.08
IGL02430:Ubc APN 5 125387570 missense probably damaging 1.00
IGL02830:Ubc APN 5 125387313 missense probably damaging 0.97
IGL02902:Ubc APN 5 125386229 missense probably benign 0.15
IGL02927:Ubc APN 5 125386137 missense probably benign 0.01
IGL03027:Ubc APN 5 125387501 missense probably damaging 1.00
IGL03066:Ubc APN 5 125388263 splice site probably benign
R4940:Ubc UTSW 5 125386229 missense probably benign 0.15
R5509:Ubc UTSW 5 125387275 missense probably benign 0.30
R6318:Ubc UTSW 5 125388260 start codon destroyed probably null 0.99
R6339:Ubc UTSW 5 125387342 missense probably damaging 0.99
R7033:Ubc UTSW 5 125388174 missense probably damaging 1.00
R7764:Ubc UTSW 5 125388069 missense possibly damaging 0.78
R8097:Ubc UTSW 5 125389918 start gained probably benign
R8348:Ubc UTSW 5 125388031 missense probably damaging 1.00
Posted On2015-12-18