Adamtsl1 - SNV Details



 Gene Information 
Gene Name Adamtsl1
Old Gene Names for Adamtsl1 5930437a14rik , 6720426b09rik
Gene Description ADAMTS-like 1 [Source:MGI Symbol;Acc:MGI:1924989]
Uniprot Name
CCDS Name
Gene GO
metallopeptidase activity; extracellular matrix; proteinaceous extracellular matrix; zinc ion binding; protein binding; peptidase activity; cellular_component; metalloendopeptidase activity; biological_process; molecular_function
Homolog in other species ADAMTSL1
Omim http://omim.org/entry/609198
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)
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000066113
Chromosome 4
Coordinate 86,249,805     (Assembly: GRCm38)    
Ref Base C
Codon Change Ctc/Ttc
Var Base T
Zygosity Heterozygous
Read Depth 39
Allele Frequency
C:R0.44
T:V0.56
Amino Acid Position 445
Amino Acid Change L->F (Leucine -> Phenylalanine)
Sample ID IGL02373
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.08
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved