Incidental Mutation 'IGL01100:Ube2z'
ID52293
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube2z
Ensembl Gene ENSMUSG00000014349
Gene Nameubiquitin-conjugating enzyme E2Z
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.815) question?
Stock #IGL01100
Quality Score
Status
Chromosome11
Chromosomal Location96047432-96065388 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 96063023 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 123 (V123A)
Ref Sequence ENSEMBL: ENSMUSP00000098097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100528]
Predicted Effect probably damaging
Transcript: ENSMUST00000100528
AA Change: V123A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098097
Gene: ENSMUSG00000014349
AA Change: V123A

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
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,274,673 probably null Het
Abca8a C T 11: 110,058,423 probably null Het
Acad11 A G 9: 104,076,408 T32A probably damaging Het
Ak7 T A 12: 105,713,574 N122K probably benign Het
Arrb1 A T 7: 99,587,213 probably null Het
Csde1 C A 3: 103,040,525 R132S possibly damaging Het
Emilin1 A G 5: 30,918,404 H663R probably benign Het
Etaa1 A G 11: 17,952,576 probably null Het
Fat3 A T 9: 16,375,228 F1000I probably damaging Het
Foxj2 T C 6: 122,828,391 L74P probably damaging Het
Gas6 C T 8: 13,475,118 V289M probably benign Het
Gm10801 A T 2: 98,663,983 Y135F probably benign Het
Ihh C T 1: 74,946,442 A295T probably damaging Het
Ip6k2 G T 9: 108,805,744 S305I probably damaging Het
Kcnk2 A G 1: 189,339,936 V65A probably damaging Het
Kif26b G A 1: 178,917,244 C1635Y probably benign Het
Klhdc4 G A 8: 121,821,843 Q44* probably null Het
Madd C A 2: 91,158,040 R1216L probably damaging Het
Myo15 T A 11: 60,511,158 C3076S probably damaging Het
Olfr365 A T 2: 37,201,640 H133L possibly damaging Het
Olfr670 T A 7: 104,959,995 I246F probably benign Het
Polq C A 16: 37,061,112 P934T probably benign Het
Prkaa1 A T 15: 5,174,318 K227M probably damaging Het
Psap G A 10: 60,299,929 G388S probably benign Het
Repin1 A G 6: 48,596,905 E200G probably damaging Het
Samd9l C A 6: 3,375,863 S466I possibly damaging Het
Slc5a3 A G 16: 92,079,222 probably benign Het
Smg9 G A 7: 24,416,951 V314M probably damaging Het
Tktl1 G A X: 74,200,626 R352H probably benign Het
Vmn1r176 A T 7: 23,835,624 F35I probably benign Het
Zdhhc18 A T 4: 133,612,958 Y293N probably damaging Het
Other mutations in Ube2z
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01903:Ube2z APN 11 96065000 missense possibly damaging 0.67
ub40 UTSW 11 96050407 missense probably damaging 1.00
R0501:Ube2z UTSW 11 96050288 missense probably damaging 0.99
R4035:Ube2z UTSW 11 96061067 missense probably damaging 1.00
R5033:Ube2z UTSW 11 96050322 missense probably benign
R5067:Ube2z UTSW 11 96063009 missense probably benign 0.27
R5913:Ube2z UTSW 11 96061063 missense possibly damaging 0.56
R6284:Ube2z UTSW 11 96050407 missense probably damaging 1.00
R7447:Ube2z UTSW 11 96055910 missense possibly damaging 0.84
X0019:Ube2z UTSW 11 96065111 unclassified probably benign
Posted On2013-06-21