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
cytoplasm; lamin binding; cytoskeletal anchoring at nuclear membrane; integral component of nuclear inner membrane; protein binding; integral component of membrane; nuclear envelope organization; nucleus; acrosomal membrane; nuclear envelope; SUN-KASH complex; nuclear matrix anchoring at nuclear membrane
Homolog in other species SUN1
Omim http://omim.org/entry/607723
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000036817
Chromosome 5
Coordinate 139,235,488     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 46
Allele Frequency
T:R0.52
C:V0.48
Amino Acid Change Disrupted splicing
Splice Position 4
Sample ID IGL02939
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved