Espl1 - SNV Details



 Gene Information 
Gene Name Espl1
Old Gene Names for Espl1 Al024103 , Au045071 , Cerp
Gene Description extra spindle poles-like 1 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:2146156]
MGI phenotype Homozygous null mice display embryonic lethality before somite formation. Conditional null mice display abnormal mitosis during liver regeneration.
Uniprot Name
CCDS Name
Gene GO
meiosis I; mitotic sister chromatid segregation; protein binding; mitotic anaphase; peptidase activity; nucleus; meiotic spindle organization; cysteine-type peptidase activity; homologous chromosome segregation; proteolysis; chromosome segregation; centrosome
Homolog in other species ESPL1
Omim http://omim.org/entry/604143
Immgen Expression
MEDIAN(HIGH IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, TGD.VG5+.ACT.IEL, NK.MCMV1.SP, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, T.4SP24-.TH, T.8SP24-.TH, DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE, IMM GROUP, OSTEO GROUP, EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000058290
Chromosome 15
Coordinate 102,298,205     (Assembly: GRCm38)    
Ref Base A
Codon Change Act/Gct
Var Base G
Zygosity Heterozygous
Read Depth 25
Allele Frequency
A:R0.52
G:V0.48
Amino Acid Position 35
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL01810
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 1
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved