Sun1 - SNV Details



 Gene Information 
Gene Name Sun1
Old Gene Names for Sun1 4632417g13rik , 5730434d03rik , Unc84a
Gene Description Sad1 and UNC84 domain containing 1 [Source:MGI Symbol;Acc:MGI:1924303]
MGI phenotype Mice homozygous for a null allele exhibit sterility due to arrested meiosis.
Uniprot Name
CCDS Name
Gene GO
integral to membrane; cytoplasm; lamin binding; zinc ion binding; intracellular membrane-bounded organelle; integral to nuclear inner membrane; protein binding; nucleus; acrosomal membrane; nuclear envelope; nuclear membrane
Homolog in other species SUN1
Omim http://omim.org/entry/607723
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000036817
Chromosome 5
Coordinate 139,234,741     (Assembly: GRCm38)    
Ref Base T
Codon Change cTg/cAg
Var Base A
Zygosity Heterozygous
Read Depth 39
Allele Frequency
T:R0.51
A:V0.46
Amino Acid Position 446
Amino Acid Change L->Q (Leucine -> Glutamine)
Sample ID IGL01364
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 47 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging
Sift Score 0.02
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved