Ntng1 - SNV Details



 Human Rare Diseases 
Atypical Rett syndrome

 Gene Information 
Gene Name Ntng1
Old Gene Names for Ntng1 A930010c08rik , Ai853992
Gene Description netrin G1 [Source:MGI Symbol;Acc:MGI:1934028]
MGI phenotype Mice homozygous for a null allele survive into adulthood with no major alterations in gross brain cytoarchitecture or axonal projection.
Uniprot Name
CCDS Name
Gene GO
axonogenesis; anchored component of plasma membrane; protein binding; plasma membrane; molecular_function
Homolog in other species NTNG1
Omim http://omim.org/entry/608818
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000059857
Chromosome 3
Coordinate 109,934,702     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 18
Allele Frequency
T:R0.61
C:V0.39
Amino Acid Change K->E (Lysine -> Glutamic acid)
Sample ID IGL03009
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 27 Other Mutations

 Predictions 
Polyphen Score 0.04
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved