Nlgn1 - SNV Details



 Gene Information 
Gene Name Nlgn1
Old Gene Names for Nlgn1 Bb179718 , 6330415n05rik
Gene Description neuroligin 1 [Source:MGI Symbol;Acc:MGI:2179435]
MGI phenotype Mice homozygous for a knock-out allele are viable and fertile but display impaired NMDA receptor-mediated synaptic transmission onto CA1 pyramidal cells.
Uniprot Name
CCDS Name
Gene GO
N-methyl-D-aspartate receptor clustering; cell adhesion molecule binding; protein targeting; filopodium tip; regulation of N-methyl-D-aspartate selective glutamate receptor activity; receptor localization to synapse; positive regulation of synaptic vesicle exocytosis; calcium-dependent cell-cell adhesion; positive regulation of synaptic transmission
glutamatergic; postsynaptic membrane; synaptic vesicle targeting; nervous system development; cytoskeletal matrix organization at active zone; postsynaptic membrane assembly; receptor activity; excitatory synapse; hydrolase activity; cell adhesion; alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering; synapse organization; N-methyl-D-aspartate selective glutamate receptor complex; presynaptic membrane assembly; establishment of protein localization; synaptic vesicle clustering; positive regulation of dendritic spine development; positive regulation of excitatory postsynaptic membrane potential; terminal button organization; metabolic process; regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity; external side of plasma membrane; protein binding; synapse; cell surface; positive regulation of synapse assembly; protein localization to synapse; postsynaptic density protein 95 clustering; cell junction; positive regulation of filopodium assembly; synapse assembly; heterophilic cell-cell adhesion; neuron cell-cell adhesion; PDZ domain binding; protein dimerization activity; regulation of neuron differentiation; neurexin clustering; positive regulation of synaptic transmission
GABAergic; neurexin family protein binding; protein homooligomerization; regulation of respiratory gaseous exchange by neurological system process; integral component of plasma membrane; dendrite; regulation of synaptic transmission; positive regulation of ruffle assembly; positive regulation of intracellular signal transduction; protein heterotetramerization; positive regulation of synaptic vesicle endocytosis; postsynaptic density
Homolog in other species NLGN1
Omim http://omim.org/entry/600568
Immgen Expression
LOW
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, DORSALROOTGANGLION, HIPPOCAMPUS, AMYGDALA, FRONTALCORTEX, CEREBRALCORTEX, CORTEX, PREOPTIC, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000063887
Chromosome 3
Coordinate 25,433,781     (Assembly: GRCm38)    
Ref Base T
Var Base G
Zygosity Heterozygous
Read Depth 42
Allele Frequency
T:R0.55
G:V0.45
Amino Acid Change T->P (Threonine -> Proline)
Sample ID IGL00543
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 26 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved