Tspyl1 - SNV Details



 Human Rare Diseases 
Sudden infant death - dysgenesis of the testes

 Gene Information 
Gene Name Tspyl1
Gene Description testis-specific protein, Y-encoded-like 1 [Source:MGI Symbol;Acc:MGI:1298395]
Uniprot Name
CCDS Name
Gene GO
cytoplasm; nucleosome assembly; nucleus; nucleolus
Homolog in other species TSPYL1
Omim http://omim.org/entry/604714
Immgen Expression
MEDIAN
Gnf Expression
HIGH(HIGHER IN IMM GROUP, NS GROUPS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000047514
Chromosome 10
Coordinate 34,283,090     (Assembly: GRCm38)    
Ref Base C
Codon Change aaC/aaA
Var Base A
Zygosity Heterozygous
Read Depth 63
Allele Frequency
C:R0.52
A:V0.48
Amino Acid Position 270
Amino Acid Change N->K (Asparagine -> Lysine)
Sample ID IGL01575
Median Base Quality 36
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 38 Other Mutations

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

 Protein domains 
ENSMUSP00000063051:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Nucleosome assembly protein (NAP) NAP_family IPR002164 ENSMUSP00000063051 Pfam 174
352 Description available Search pathways

 Availability Details 
Availability Cryopreserved