Neu4 - SNV Details



 Gene Information 
Gene Name Neu4
Gene Description sialidase 4 [Source:MGI Symbol;Acc:MGI:2661364]
MGI phenotype Mice homozygous for a null allele are largely normal except increased lipid content in the lung and liver and vacuolization indicative of lysosomal storage disorder.
Uniprot Name
CCDS Name
Gene GO
mitochondrion; exo-alpha-(2->6)-sialidase activity; exo-alpha-(2->3)-sialidase activity; organelle inner membrane; lysosome; exo-alpha-(2->8)-sialidase activity; protein binding; exo-alpha-sialidase activity
Homolog in other species NEU4
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)
Gnf Expression
MEDIAN
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000034000
Chromosome 1
Coordinate 94,024,491     (Assembly: GRCm38)    
Ref Base G
Codon Change cGc/cTc
Var Base T
Zygosity Heterozygous
Read Depth 73
Allele Frequency
G:R0.55
T:V0.45
Amino Acid Position 171
Amino Acid Change R->L (Arginine -> Leucine)
Sample ID IGL02367
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-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 
ENSMUSP00000051151:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Sialidases Sialidases IPR011040 ENSMUSP00000051151 Superfamily 7
459 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved