Chia - SNV Details



 Gene Information 
Gene Name Chia
Old Gene Names for Chia 2200003e03rik
Gene Description chitinase, acidic [Source:MGI Symbol;Acc:MGI:1932052]
Uniprot Name
CCDS Name
Gene GO
polysaccharide catabolic process; chitin catabolic process; apoptotic process; cytoplasm; chitin binding; carbohydrate metabolic process; chitinase activity; extracellular region; production of molecular mediator involved in inflammatory response; cation binding; chitin metabolic process; hydrolase activity
hydrolyzing O-glycosyl compounds; extracellular space; positive regulation of chemokine secretion
Homolog in other species CHIA
Omim http://omim.org/entry/606080
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGH IN M1, BLASTOCYSTS, GI GROUP, EPITH GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000062778
Chromosome 3
Coordinate 106,128,220     (Assembly: GRCm38)    
Ref Base T
Codon Change gTa/gAa
Var Base A
Zygosity Heterozygous
Read Depth 51
Allele Frequency
T:R0.69
A:V0.31
Amino Acid Position 184
Amino Acid Change V->E (Valine -> Glutamic acid)
Sample ID IGL01917
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 24 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000078134:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Glycoside hydrolase, superfamily Glycoside_hydrolase_SF IPR017853 ENSMUSP00000078134 Superfamily 22
393 Description available Search pathways
Chitinase II Chitinase_II IPR011583 ENSMUSP00000078134 Smart 22
365 Description available Search pathways
Glycoside hydrolase, family 18, catalytic domain Glyco_hydro18cat IPR001223 ENSMUSP00000078134 Pfam 22
365 Description available Search pathways

 Availability Details 
Availability Cryopreserved