Sae1 - SNV Details



 Gene Information 
Gene Name Sae1
Old Gene Names for Sae1 Al033372 , Aw743391 , D7ertd177e , Uble1a
Gene Description SUMO1 activating enzyme subunit 1 [Source:MGI Symbol;Acc:MGI:1929264]
Uniprot Name
CCDS Name
Gene GO
catalytic activity; SUMO activating enzyme activity; protein C-terminus binding; intracellular membrane-bounded organelle; protein binding; ATP-dependent protein binding; nucleus; nucleotide binding; ligase activity; protein sumoylation
Homolog in other species SAE1
Omim http://omim.org/entry/613294
Immgen Expression
MEDIAN(HIGH IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000052833
Chromosome 7
Coordinate 16,330,656     (Assembly: GRCm38)    
Ref Base A
Codon Change gTa/gAa
Var Base T
Zygosity Heterozygous
Read Depth 30
Allele Frequency
A:R0.63
T:V0.37
Amino Acid Position 306
Amino Acid Change V->E (Valine -> Glutamic acid)
Sample ID IGL02206
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved