Gm17482,Syn2,Timp4 - SNV Details



 Gene Information 
Gene Name Gm17482 , Syn2 , Timp4
Old Gene Names for Syn2 Ai841723 , Ai836018 , 2900074l19rik
Gene Description tissue inhibitor of metalloproteinase 4 [Source:MGI Symbol;Acc:MGI:109125],synapsin II [Source:MGI Symbol;Acc:MGI:103020],predicted gene, 17482 [Source:MGI Symbol;Acc:MGI:4937116]
MGI phenotype Homozygous mutation of this gene results in central nervous system abnormalities. One model showed delayed synapse formation and decreased brain weight while another allele showed decreased post-tetanic potentiation and increased synaptic depression and development of convulsive seizures.,Mice homozygous for a knock-out allele show increased lethality associated with left ventricle rupture following left anterior descending coronary artery ligation. Aged mice exhibit reduced myocardial performance index, decreased coronary flow rate, and increased left ventricle thickness and weight.,NO_PHENOTYPE
Uniprot Name
CCDS Name
Gene GO
response to lipopolysaccharide; response to hormone stimulus; metal ion binding; response to peptide hormone stimulus; metalloendopeptidase inhibitor activity; sarcomere; protein binding; response to cytokine stimulus; response to drug; ovulation cycle; central nervous system development; extracellular space
NO_GO
catalytic activity; synaptic vesicle membrane; neurotransmitter secretion; synapse; cell junction; synaptic vesicle; protein dimerization activity; ATP binding
Homolog in other species TIMP4,NO_HOMOLOG,SYN2
Omim NO_OMIM,http://omim.org/entry/601915,http://omim.org/entry/600755
Immgen Expression
LOW,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),NO_IMMGEN
Gnf Expression
MEDIAN(HIGH IN CEREBELLUM),LOW/MEDIAN(HIGH IN NS GROUP, NEURO2A, MEDIALOLFACTORYEPITHELIUM.MOE, VOMERALNASALORGAN.VMO, SEPTAL.ORGAN, SEPTUM.RESP.EPITH)
LOW/MEDIAN,NO_GNF
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030317
Chromosome 6
Coordinate 115,247,279     (Assembly: GRCm38)    
Ref Base A
Codon Change gTg/gAg
Var Base T
Zygosity Heterozygous
Read Depth 47
Allele Frequency
A:R0.64
T:V0.36
Amino Acid Position 143
Amino Acid Change V->E (Valine -> Glutamic acid)
Sample ID IGL02267
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 52 Other Mutations

 Predictions 
Polyphen Score 0.03
Polyphen Prediction Benign
Sift Score 0.01
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000032462:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Proteinase inhibitor I35, tissue inhibitor of metalloproteinase Prot_inh_TIMP IPR001820 ENSMUSP00000032462 Pfam 28
207 Description available Search pathways
Tissue inhibitor of metalloproteinases-like, OB-fold TIMP-like_OB-fold IPR008993 ENSMUSP00000032462 Superfamily 30
212 Description available Search pathways
Proteinase inhibitor I35, tissue inhibitor of metalloproteinase Prot_inh_TIMP IPR001820 ENSMUSP00000032462 Smart 30
207 Description available Search pathways
Netrin domain Netrin_domain IPR001134 ENSMUSP00000032462 Prosite_profiles 30
156 Description available Search pathways

 Availability Details 
Availability Cryopreserved