Incidental Mutation 'R5251:Cdc34'
ID 399047
Institutional Source Beutler Lab
Gene Symbol Cdc34
Ensembl Gene ENSMUSG00000020307
Gene Name cell division cycle 34
Synonyms UBE2R1
MMRRC Submission 042822-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R5251 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 79518029-79524232 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 79521090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 129 (S129L)
Ref Sequence ENSEMBL: ENSMUSP00000128806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020549] [ENSMUST00000020550] [ENSMUST00000166603] [ENSMUST00000218938] [ENSMUST00000218964] [ENSMUST00000219389] [ENSMUST00000219930] [ENSMUST00000219791]
AlphaFold Q8CFI2
Predicted Effect probably benign
Transcript: ENSMUST00000020549
SMART Domains Protein: ENSMUSP00000020549
Gene: ENSMUSG00000054206

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Tryp_SPc 26 251 4.6e-74 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000020550
AA Change: S129L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020550
Gene: ENSMUSG00000020307
AA Change: S129L

DomainStartEndE-ValueType
UBCc 11 174 9.27e-64 SMART
low complexity region 207 220 N/A INTRINSIC
low complexity region 224 235 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166603
AA Change: S129L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128806
Gene: ENSMUSG00000020307
AA Change: S129L

DomainStartEndE-ValueType
UBCc 11 174 9.27e-64 SMART
low complexity region 207 220 N/A INTRINSIC
low complexity region 224 235 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217689
Predicted Effect probably benign
Transcript: ENSMUST00000218938
Predicted Effect possibly damaging
Transcript: ENSMUST00000218964
AA Change: S109L

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219074
Predicted Effect possibly damaging
Transcript: ENSMUST00000219389
AA Change: S49L

PolyPhen 2 Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect unknown
Transcript: ENSMUST00000220328
AA Change: S41L
Predicted Effect possibly damaging
Transcript: ENSMUST00000219930
AA Change: S113L

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000219791
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220133
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ubiquitin-conjugating enzyme family. Ubiquitin-conjugating enzyme catalyzes the covalent attachment of ubiquitin to other proteins. This protein is a part of the large multiprotein complex, which is required for ubiquitin-mediated degradation of cell cycle G1 regulators, and for the initiation of DNA replication. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1 A T 5: 36,108,236 (GRCm39) E194V probably damaging Het
Ankrd16 T A 2: 11,783,552 (GRCm39) D51E probably damaging Het
Arhgef5 A G 6: 43,249,815 (GRCm39) T189A possibly damaging Het
Camk4 A G 18: 33,317,932 (GRCm39) D363G probably benign Het
Camta1 A G 4: 151,248,341 (GRCm39) I199T probably damaging Het
Ccdc141 C T 2: 76,858,118 (GRCm39) C1021Y probably damaging Het
Cenph T A 13: 100,898,348 (GRCm39) N185I possibly damaging Het
Colq A G 14: 31,261,776 (GRCm39) probably null Het
Dph2 A T 4: 117,747,543 (GRCm39) D280E probably damaging Het
Exosc5 A G 7: 25,367,180 (GRCm39) Y224C probably damaging Het
Fgfr3 C T 5: 33,892,900 (GRCm39) probably benign Het
Hs3st6 T A 17: 24,976,959 (GRCm39) D146E probably benign Het
Igkv13-84 A T 6: 68,916,772 (GRCm39) Q23L probably benign Het
Macf1 A G 4: 123,343,760 (GRCm39) V2154A probably benign Het
Man1a2 T C 3: 100,527,415 (GRCm39) E225G probably damaging Het
Mertk T C 2: 128,571,375 (GRCm39) S110P probably damaging Het
Nav3 A G 10: 109,689,114 (GRCm39) F388L probably damaging Het
Nme8 T C 13: 19,844,795 (GRCm39) N98S probably benign Het
Nup205 A G 6: 35,173,417 (GRCm39) probably null Het
Prl7d1 T C 13: 27,893,227 (GRCm39) N228S probably benign Het
Prss23 T C 7: 89,159,530 (GRCm39) K180E probably damaging Het
Psap G A 10: 60,137,479 (GRCm39) D549N probably damaging Het
Sec16a A G 2: 26,329,357 (GRCm39) V886A probably benign Het
Sh2d1b2 A T 1: 170,077,642 (GRCm39) E81D probably benign Het
Tbx6 A T 7: 126,382,516 (GRCm39) N254I probably damaging Het
Tchhl1 T C 3: 93,377,860 (GRCm39) V188A possibly damaging Het
Trpc3 A T 3: 36,725,103 (GRCm39) L291Q probably damaging Het
Zbtb38 G T 9: 96,569,161 (GRCm39) T641N probably benign Het
Other mutations in Cdc34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02240:Cdc34 APN 10 79,523,823 (GRCm39) missense possibly damaging 0.90
R1344:Cdc34 UTSW 10 79,521,134 (GRCm39) missense probably damaging 1.00
R1635:Cdc34 UTSW 10 79,523,888 (GRCm39) missense probably benign 0.23
R1764:Cdc34 UTSW 10 79,521,172 (GRCm39) splice site probably null
R1764:Cdc34 UTSW 10 79,521,174 (GRCm39) missense probably benign 0.00
R4584:Cdc34 UTSW 10 79,523,869 (GRCm39) missense possibly damaging 0.46
R5609:Cdc34 UTSW 10 79,520,655 (GRCm39) missense probably damaging 0.97
R6913:Cdc34 UTSW 10 79,520,937 (GRCm39) critical splice donor site probably null
R7331:Cdc34 UTSW 10 79,521,146 (GRCm39) missense probably damaging 1.00
R8176:Cdc34 UTSW 10 79,518,362 (GRCm39) missense probably damaging 1.00
R8497:Cdc34 UTSW 10 79,520,845 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGTTGACGACCCACAGAGTG -3'
(R):5'- ACACAGGTCACTCTTCAGAGC -3'

Sequencing Primer
(F):5'- TCAGAGCGGTGGAACCC -3'
(R):5'- CAGGCAGCATCTATTGTAGAGACC -3'
Posted On 2016-07-06