Neo1 - SNV Details



 Gene Information 
Gene Name Neo1
Old Gene Names for Neo1 2610028h22rik , Ai327052 , D930014n22rik
Gene Description neogenin [Source:MGI Symbol;Acc:MGI:1097159]
MGI phenotype Mice homozygous for a gene trap allele display perinatal lethality and abnormal trigeminal nerve development.
Uniprot Name
CCDS Name
Gene GO
DNA-dependent
Golgi apparatus
cadherin binding
cytoplasm
integral to membrane
myoblast fusion
nucleus
plasma membrane
positive regulation of muscle cell differentiation
protein binding
receptor activity
Homolog in other species NEO1
Omim http://omim.org/entry/601907
Immgen Expression
LOW(HIGH IN DC.LC.SK)
Gnf Expression
MEDIAN
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032340
Chromosome 9
Coordinate 58,888,463     (Assembly: GRCm38)    
Ref Base A
Codon Change cTg/cCg
Var Base G
Zygosity Heterozygous
Read Depth 40
Allele Frequency
A:0.57
G:0.42
Amino Acid Position 1258
Amino Acid Change L->P (Leucine -> Proline)
Sample ID IGL00885
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved