Incidental Mutation 'IGL03027:Ubc'
ID 408221
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubc
Ensembl Gene ENSMUSG00000008348
Gene Name ubiquitin C
Synonyms 2700054O04Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03027
Quality Score
Status
Chromosome 5
Chromosomal Location 125463029-125467081 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 125464565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 254 (V254D)
Ref Sequence ENSEMBL: ENSMUSP00000115578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100700] [ENSMUST00000108707] [ENSMUST00000136312] [ENSMUST00000156249]
AlphaFold P0CG50
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 damaging
Transcript: ENSMUST00000136312
AA Change: V254D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114180
Gene: ENSMUSG00000008348
AA Change: V254D

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 damaging
Transcript: ENSMUST00000156249
AA Change: V254D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115578
Gene: ENSMUSG00000008348
AA Change: V254D

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 A T 17: 43,607,605 (GRCm39) Y108F probably damaging Het
Afap1 T C 5: 36,119,094 (GRCm39) I243T probably benign Het
Ano5 A G 7: 51,216,025 (GRCm39) D320G probably damaging Het
Arhgef1 T A 7: 24,623,157 (GRCm39) I423K probably damaging Het
Casp9 A G 4: 141,539,584 (GRCm39) E410G probably benign Het
Ccdc39 A C 3: 33,884,267 (GRCm39) H358Q probably benign Het
Ces5a A T 8: 94,249,742 (GRCm39) probably null Het
Clip1 A T 5: 123,759,919 (GRCm39) M935K probably benign Het
Col12a1 A G 9: 79,548,833 (GRCm39) Y2171H probably benign Het
Cyp2f2 A T 7: 26,831,996 (GRCm39) N417I possibly damaging Het
Dock3 G A 9: 106,870,677 (GRCm39) P579L probably damaging Het
Dock7 T C 4: 98,866,164 (GRCm39) M1209V probably benign Het
Dock7 T C 4: 98,958,450 (GRCm39) T334A possibly damaging Het
Dst A T 1: 34,225,106 (GRCm39) I1171F possibly damaging Het
Eya1 G T 1: 14,241,190 (GRCm39) H576N probably damaging Het
Fam117a A G 11: 95,268,399 (GRCm39) T267A probably benign Het
Fam43a C T 16: 30,419,922 (GRCm39) R169C probably damaging Het
Gabra6 T C 11: 42,205,980 (GRCm39) H291R probably damaging Het
Gm7145 T C 1: 117,895,417 (GRCm39) S27P probably benign Het
Gpt C T 15: 76,582,289 (GRCm39) probably benign Het
Grip2 A G 6: 91,755,852 (GRCm39) I586T probably benign Het
Hif1a C T 12: 73,987,251 (GRCm39) P448L probably benign Het
Hmcn1 C T 1: 150,684,290 (GRCm39) V427I probably benign Het
Ipo8 C A 6: 148,678,737 (GRCm39) V954L probably benign Het
Kdm5a G T 6: 120,351,951 (GRCm39) probably null Het
Klhl36 T A 8: 120,603,229 (GRCm39) S495T probably benign Het
Lpar5 T A 6: 125,059,203 (GRCm39) L308Q probably damaging Het
Lrp2 T G 2: 69,367,897 (GRCm39) D205A probably benign Het
Lrriq1 A G 10: 103,063,057 (GRCm39) I83T probably benign Het
Mapk8ip2 A T 15: 89,342,310 (GRCm39) D507V probably damaging Het
Mical1 T C 10: 41,355,501 (GRCm39) probably benign Het
Myef2 T A 2: 124,930,954 (GRCm39) H539L possibly damaging Het
Myh7 T C 14: 55,221,007 (GRCm39) E972G probably damaging Het
Naip5 A G 13: 100,359,524 (GRCm39) Y571H probably benign Het
Nfasc T A 1: 132,538,207 (GRCm39) N478I probably damaging Het
Or6c1b A G 10: 129,272,780 (GRCm39) Y33C probably damaging Het
Pde2a A T 7: 101,130,627 (GRCm39) Q89L probably benign Het
Ppard C A 17: 28,518,765 (GRCm39) T422K possibly damaging Het
Ppp1r13b G T 12: 111,796,830 (GRCm39) Y904* probably null Het
Ptx4 T A 17: 25,344,022 (GRCm39) I424K possibly damaging Het
Rab19 A G 6: 39,360,927 (GRCm39) D25G probably damaging Het
Rbl2 T A 8: 91,805,534 (GRCm39) I197N possibly damaging Het
Rttn A G 18: 88,997,814 (GRCm39) D273G probably damaging Het
Sec16a G A 2: 26,313,601 (GRCm39) R1920C probably benign Het
Sec23b A T 2: 144,429,465 (GRCm39) N731I possibly damaging Het
Serpinb9d G A 13: 33,386,698 (GRCm39) W255* probably null Het
Sim2 G A 16: 93,910,351 (GRCm39) probably benign Het
Tbl3 T C 17: 24,920,167 (GRCm39) probably null Het
Tmem176b C T 6: 48,812,573 (GRCm39) A131T probably damaging Het
Tmem181a T A 17: 6,348,494 (GRCm39) V332D probably damaging Het
Trgc1 G T 13: 19,398,563 (GRCm39) G97* probably null Het
Tuba3b T A 6: 145,565,117 (GRCm39) L195Q probably damaging Het
Ube4b G T 4: 149,465,734 (GRCm39) P239T probably damaging Het
Vars1 G T 17: 35,232,663 (GRCm39) M862I probably damaging Het
Vmn2r66 T C 7: 84,644,777 (GRCm39) probably benign Het
Wdr59 G A 8: 112,188,824 (GRCm39) A720V probably damaging Het
Zfhx3 G A 8: 109,519,820 (GRCm39) R314Q probably damaging Het
Other mutations in Ubc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02225:Ubc APN 5 125,463,197 (GRCm39) missense probably benign 0.08
IGL02430:Ubc APN 5 125,464,634 (GRCm39) missense probably damaging 1.00
IGL02830:Ubc APN 5 125,464,377 (GRCm39) missense probably damaging 0.97
IGL02866:Ubc APN 5 125,464,486 (GRCm39) missense probably benign
IGL02902:Ubc APN 5 125,463,293 (GRCm39) missense probably benign 0.15
IGL02927:Ubc APN 5 125,463,201 (GRCm39) missense probably benign 0.01
IGL03066:Ubc APN 5 125,465,327 (GRCm39) splice site probably benign
R4940:Ubc UTSW 5 125,463,293 (GRCm39) missense probably benign 0.15
R5509:Ubc UTSW 5 125,464,339 (GRCm39) missense probably benign 0.30
R6318:Ubc UTSW 5 125,465,324 (GRCm39) start codon destroyed probably null 0.99
R6339:Ubc UTSW 5 125,464,406 (GRCm39) missense probably damaging 0.99
R7033:Ubc UTSW 5 125,465,238 (GRCm39) missense probably damaging 1.00
R7764:Ubc UTSW 5 125,465,133 (GRCm39) missense possibly damaging 0.78
R8097:Ubc UTSW 5 125,466,982 (GRCm39) start gained probably benign
R8348:Ubc UTSW 5 125,465,095 (GRCm39) missense probably damaging 1.00
R9418:Ubc UTSW 5 125,464,466 (GRCm39) missense probably damaging 1.00
R9621:Ubc UTSW 5 125,464,511 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02