Incidental Mutation 'R5067:Ube2z'
ID 388378
Institutional Source Beutler Lab
Gene Symbol Ube2z
Ensembl Gene ENSMUSG00000014349
Gene Name ubiquitin-conjugating enzyme E2Z
Synonyms C030047H17Rik
MMRRC Submission 042657-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.825) question?
Stock # R5067 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 95938257-95956190 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 95953835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 128 (V128I)
Ref Sequence ENSEMBL: ENSMUSP00000098097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100528]
AlphaFold Q3UE37
Predicted Effect probably benign
Transcript: ENSMUST00000100528
AA Change: V128I

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000098097
Gene: ENSMUSG00000014349
AA Change: V128I

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
Meta Mutation Damage Score 0.0786 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency 100% (54/54)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak2 T C 12: 112,748,936 (GRCm39) N304D probably benign Het
Akr7a5 T C 4: 139,038,333 (GRCm39) S90P probably damaging Het
Aplnr T A 2: 84,967,128 (GRCm39) V51E probably damaging Het
Arhgap21 A T 2: 20,884,848 (GRCm39) H776Q probably damaging Het
Asxl3 C G 18: 22,658,356 (GRCm39) A2122G possibly damaging Het
Bsn T A 9: 107,989,152 (GRCm39) Y2200F probably damaging Het
Btbd10 A T 7: 112,925,043 (GRCm39) D268E probably damaging Het
Cacna1h T C 17: 25,616,782 (GRCm39) N113D probably damaging Het
Cfap54 T C 10: 92,902,628 (GRCm39) N175D probably benign Het
Cfap61 A G 2: 145,943,956 (GRCm39) D134G probably damaging Het
Clybl A T 14: 122,616,701 (GRCm39) I239L possibly damaging Het
Defb11 A T 8: 22,396,352 (GRCm39) F15Y probably damaging Het
Dlc1 A G 8: 37,051,647 (GRCm39) S695P probably benign Het
Fbxl5 T C 5: 43,916,114 (GRCm39) K432E probably benign Het
Fryl T C 5: 73,215,098 (GRCm39) E2226G probably benign Het
Gm10337 T A 15: 102,412,306 (GRCm39) probably null Het
Gm5828 A G 1: 16,839,516 (GRCm39) noncoding transcript Het
Gm8674 A T 13: 50,053,870 (GRCm39) noncoding transcript Het
Ighv6-5 T C 12: 114,380,191 (GRCm39) probably null Het
Insyn2a A T 7: 134,520,284 (GRCm39) V82E probably benign Het
Ints14 C A 9: 64,871,694 (GRCm39) L11M probably damaging Het
Kcp G A 6: 29,492,107 (GRCm39) P153L probably benign Het
Lrrk2 A C 15: 91,649,993 (GRCm39) N1710T probably benign Het
Marchf10 T A 11: 105,280,933 (GRCm39) T451S possibly damaging Het
Mcf2l T G 8: 12,965,959 (GRCm39) probably benign Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Neurod2 T A 11: 98,218,063 (GRCm39) H367L possibly damaging Het
Nfatc4 A T 14: 56,069,875 (GRCm39) Q681L probably damaging Het
Nkx3-2 T C 5: 41,919,220 (GRCm39) N256S probably damaging Het
Ntng1 G A 3: 110,042,661 (GRCm39) T55M possibly damaging Het
Snd1 C A 6: 28,888,239 (GRCm39) N891K probably damaging Het
Syt7 T C 19: 10,420,222 (GRCm39) V382A possibly damaging Het
Trim72 T C 7: 127,609,139 (GRCm39) S314P possibly damaging Het
Ttc41 T C 10: 86,580,408 (GRCm39) S785P probably damaging Het
Vps26c T A 16: 94,327,263 (GRCm39) probably benign Het
Wdr43 T C 17: 71,933,849 (GRCm39) Y149H probably benign Het
Wnk4 T A 11: 101,153,682 (GRCm39) V248E probably damaging Het
Zcchc2 A T 1: 105,958,694 (GRCm39) N1055I probably damaging Het
Zdhhc23 T C 16: 43,794,134 (GRCm39) Y180C probably benign Het
Other mutations in Ube2z
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Ube2z APN 11 95,953,849 (GRCm39) missense probably damaging 1.00
IGL01903:Ube2z APN 11 95,955,826 (GRCm39) missense possibly damaging 0.67
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
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
Predicted Primers PCR Primer
(F):5'- TGTGTGTACCCTAACAACAGACC -3'
(R):5'- GTGCAAACATTTTCAGTACCAAGC -3'

Sequencing Primer
(F):5'- CAACAGACCTATTTAAAATTCTGCAC -3'
(R):5'- TTCAGTACCAAGCACCACTTTC -3'
Posted On 2016-06-06