Incidental Mutation 'IGL01903:Ube2z'
ID 179603
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube2z
Ensembl Gene ENSMUSG00000014349
Gene Name ubiquitin-conjugating enzyme E2Z
Synonyms C030047H17Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.793) question?
Stock # IGL01903
Quality Score
Status
Chromosome 11
Chromosomal Location 95938257-95956190 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95955826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 92 (D92G)
Ref Sequence ENSEMBL: ENSMUSP00000098097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090541] [ENSMUST00000100528] [ENSMUST00000178611]
AlphaFold Q3UE37
Predicted Effect probably benign
Transcript: ENSMUST00000090541
SMART Domains Protein: ENSMUSP00000088029
Gene: ENSMUSG00000006057

DomainStartEndE-ValueType
Pfam:ATP-synt_C 67 135 5.1e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000100528
AA Change: D92G

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000098097
Gene: ENSMUSG00000014349
AA Change: D92G

DomainStartEndE-ValueType
low complexity region 2 42 N/A INTRINSIC
low complexity region 49 84 N/A INTRINSIC
UBCc 104 255 2.26e-35 SMART
low complexity region 338 344 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178611
SMART Domains Protein: ENSMUSP00000137633
Gene: ENSMUSG00000006057

DomainStartEndE-ValueType
Pfam:ATP-synt_C 67 135 5.1e-19 PFAM
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 encodes an enzyme which ubiquitinates proteins which participate in signaling pathways and apoptosis. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,949,050 (GRCm39) probably benign Het
Adad1 T A 3: 37,139,231 (GRCm39) probably null Het
Asxl3 T A 18: 22,567,633 (GRCm39) D70E probably benign Het
Atat1 T A 17: 36,208,692 (GRCm39) I380L probably benign Het
Ccnj A G 19: 40,834,454 (GRCm39) E351G probably damaging Het
Clca4b A T 3: 144,634,020 (GRCm39) Y132N probably damaging Het
Cttnbp2 A C 6: 18,501,964 (GRCm39) V16G probably damaging Het
Gcdh A T 8: 85,615,233 (GRCm39) L389Q probably damaging Het
Ggta1 A T 2: 35,292,569 (GRCm39) F258Y possibly damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm3696 T A 14: 18,434,983 (GRCm39) probably benign Het
Gramd2b A T 18: 56,607,101 (GRCm39) S72C probably damaging Het
Hal G A 10: 93,336,469 (GRCm39) probably benign Het
Haus4 A T 14: 54,779,886 (GRCm39) S288T possibly damaging Het
Herc1 A T 9: 66,294,154 (GRCm39) K499* probably null Het
Hyou1 C T 9: 44,292,438 (GRCm39) probably benign Het
Kng2 C T 16: 22,806,540 (GRCm39) R553Q possibly damaging Het
Leng9 G A 7: 4,151,746 (GRCm39) A310V probably damaging Het
Magi3 G T 3: 103,958,526 (GRCm39) Q520K possibly damaging Het
Mark1 A G 1: 184,661,577 (GRCm39) probably benign Het
Mybl1 T A 1: 9,741,801 (GRCm39) probably null Het
Ncapd2 A G 6: 125,154,423 (GRCm39) S598P probably benign Het
Or14j5 T C 17: 37,920,758 (GRCm39) I295V possibly damaging Het
Or4k47 T C 2: 111,452,003 (GRCm39) K139E probably benign Het
Or5a3 G A 19: 12,400,047 (GRCm39) V125I probably benign Het
Or5aq1 A C 2: 86,965,723 (GRCm39) probably null Het
Otud6b C T 4: 14,818,458 (GRCm39) E148K probably benign Het
Pgghg A G 7: 140,526,741 (GRCm39) Q686R probably benign Het
Pkhd1 C A 1: 20,268,361 (GRCm39) C3339F probably damaging Het
Pla2g4a T C 1: 149,716,370 (GRCm39) D697G possibly damaging Het
Serping1 A T 2: 84,600,116 (GRCm39) probably null Het
Sfxn4 T C 19: 60,847,118 (GRCm39) Y55C probably damaging Het
Sh3bp5l A G 11: 58,236,864 (GRCm39) R274G probably damaging Het
Snx13 A G 12: 35,135,968 (GRCm39) T88A probably benign Het
Spz1 G T 13: 92,711,407 (GRCm39) N356K probably damaging Het
Taf2 A T 15: 54,923,412 (GRCm39) F288L probably benign Het
Tti1 T C 2: 157,842,542 (GRCm39) E829G probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r7 A G 3: 64,626,864 (GRCm39) Y142H probably benign Het
Zfp397 T A 18: 24,093,086 (GRCm39) N190K probably benign Het
Other mutations in Ube2z
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Ube2z APN 11 95,953,849 (GRCm39) missense probably damaging 1.00
ub40 UTSW 11 95,941,233 (GRCm39) missense probably damaging 1.00
R0501:Ube2z UTSW 11 95,941,114 (GRCm39) missense probably damaging 0.99
R4035:Ube2z UTSW 11 95,951,893 (GRCm39) missense probably damaging 1.00
R5033:Ube2z UTSW 11 95,941,148 (GRCm39) missense probably benign
R5067:Ube2z UTSW 11 95,953,835 (GRCm39) missense probably benign 0.27
R5913:Ube2z UTSW 11 95,951,889 (GRCm39) missense possibly damaging 0.56
R6284:Ube2z UTSW 11 95,941,233 (GRCm39) missense probably damaging 1.00
R7447:Ube2z UTSW 11 95,946,736 (GRCm39) missense possibly damaging 0.84
R8134:Ube2z UTSW 11 95,949,200 (GRCm39) missense possibly damaging 0.95
X0019:Ube2z UTSW 11 95,955,937 (GRCm39) unclassified probably benign
Posted On 2014-05-07