Incidental Mutation 'R5609:Cdc34'
ID437976
Institutional Source Beutler Lab
Gene Symbol Cdc34
Ensembl Gene ENSMUSG00000020307
Gene Namecell division cycle 34
SynonymsUBE2R1
MMRRC Submission 043158-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.243) question?
Stock #R5609 (G1)
Quality Score225
Status Not validated
Chromosome10
Chromosomal Location79682195-79688398 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 79684821 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 61 (R61C)
Ref Sequence ENSEMBL: ENSMUSP00000151763 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020549] [ENSMUST00000020550] [ENSMUST00000166603] [ENSMUST00000218938] [ENSMUST00000218964] [ENSMUST00000219389] [ENSMUST00000219791] [ENSMUST00000219930]
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 benign
Transcript: ENSMUST00000020550
AA Change: R61C

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000020550
Gene: ENSMUSG00000020307
AA Change: R61C

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 benign
Transcript: ENSMUST00000166603
AA Change: R61C

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000128806
Gene: ENSMUSG00000020307
AA Change: R61C

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 probably benign
Transcript: ENSMUST00000218964
AA Change: R41C

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219074
Predicted Effect probably benign
Transcript: ENSMUST00000219389
Predicted Effect probably damaging
Transcript: ENSMUST00000219791
AA Change: R61C

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000219930
AA Change: R45C

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220133
Predicted Effect probably benign
Transcript: ENSMUST00000220328
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417C22Rik T A 3: 108,471,415 I408F probably damaging Het
Abca13 T C 11: 9,403,874 I3732T probably benign Het
Ago1 C A 4: 126,461,037 K127N possibly damaging Het
Akap8l T C 17: 32,338,400 N79S probably damaging Het
Ano5 T C 7: 51,593,637 L836P probably damaging Het
AY358078 A G 14: 51,804,608 T147A unknown Het
BC049730 A T 7: 24,714,286 R242S possibly damaging Het
Cabp4 T C 19: 4,139,252 D102G probably benign Het
Chac1 A G 2: 119,351,406 K2E unknown Het
Cltc C T 11: 86,730,267 V305I probably damaging Het
Cog7 T C 7: 121,925,460 T704A probably benign Het
Cux1 A G 5: 136,392,320 V184A probably damaging Het
Daglb A T 5: 143,478,519 T262S probably benign Het
Dglucy A G 12: 100,787,646 I12V probably null Het
Dnah7a A G 1: 53,582,594 V1124A probably benign Het
Eef2 C CN 10: 81,178,769 probably null Het
Eif3k C A 7: 28,981,708 A9S probably benign Het
Gli3 A T 13: 15,548,453 M60L possibly damaging Het
Hk1 C T 10: 62,342,551 E4K probably benign Het
Kmt2b C A 7: 30,577,145 V1701L probably damaging Het
Lrp1b T C 2: 41,341,795 H1107R probably damaging Het
Ncor1 A G 11: 62,358,853 probably null Het
Olfr191 T A 16: 59,086,076 M136L possibly damaging Het
Olfr814 T G 10: 129,874,738 R6S probably benign Het
Plekhg4 G A 8: 105,379,502 probably null Het
Pmfbp1 G T 8: 109,525,107 E327D probably damaging Het
Slc22a17 G A 14: 54,908,970 P63L probably damaging Het
Slc37a1 G A 17: 31,338,008 V383M possibly damaging Het
Slc9a9 T A 9: 94,809,937 Y182N probably damaging Het
Slx4ip A G 2: 137,000,242 D29G probably damaging Het
St3gal5 T C 6: 72,153,462 V319A possibly damaging Het
Tbc1d10c C T 19: 4,189,882 M76I possibly damaging Het
Thrb C A 14: 18,033,526 H416N probably benign Het
Timp2 T A 11: 118,320,161 D60V probably damaging Het
Ubxn6 C T 17: 56,069,745 E216K probably benign Het
Unc79 T C 12: 103,128,268 M1977T probably benign Het
Uri1 G A 7: 37,963,529 R347* probably null Het
Vmn1r73 G A 7: 11,756,664 W136* probably null Het
Vmn2r124 T C 17: 18,073,840 Y730H probably benign Het
Wnk4 C T 11: 101,275,636 probably benign Het
Zfhx4 A G 3: 5,403,619 N2971D probably damaging Het
Other mutations in Cdc34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02240:Cdc34 APN 10 79687989 missense possibly damaging 0.90
R1344:Cdc34 UTSW 10 79685300 missense probably damaging 1.00
R1635:Cdc34 UTSW 10 79688054 missense probably benign 0.23
R1764:Cdc34 UTSW 10 79685340 missense probably benign 0.00
R1764:Cdc34 UTSW 10 79685338 intron probably null
R4584:Cdc34 UTSW 10 79688035 missense possibly damaging 0.46
R5251:Cdc34 UTSW 10 79685256 missense probably damaging 0.99
R6913:Cdc34 UTSW 10 79685103 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CAAGTGATACTTACTGCCTGGC -3'
(R):5'- GTCCCCTGTCTGTAAGAGTGAC -3'

Sequencing Primer
(F):5'- AGTGATACTTACTGCCTGGCCTTTC -3'
(R):5'- CCTGTCTGTAAGAGTGACGAGGG -3'
Posted On2016-10-26