Col22a1 - SNV Details



 Gene Information 
Gene Name Col22a1
Old Gene Names for Col22a1 C80743 , 2310067l16rik
Gene Description collagen, type XXII, alpha 1 [Source:MGI Symbol;Acc:MGI:1916950]
Uniprot Name
CCDS Name
Gene GO
protein binding; cellular_component; biological_process; molecular_function
Homolog in other species COL22A1
Omim http://omim.org/entry/610026
Gnf Expression
MEDIAN(HIGH IN TESTIS)
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000079022
Chromosome 15
Coordinate 71,952,528     (Assembly: GRCm38)    
Ref Base T
Codon Change Atg/Ttg
Var Base A
Zygosity Heterozygous
Read Depth 23
Allele Frequency
T:R0.39
A:V0.61
Amino Acid Position 556
Amino Acid Change M->L (Methionine -> Leucine)
Sample ID IGL01870
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0.11
Polyphen Prediction Benign
Sift Score 0.71
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved