Ano3,Muc15 - SNV Details



 Gene Information 
Gene Name Ano3 , Muc15
Old Gene Names for Ano3 B230324k02rik , Ai838058 , Tmem16c
Old Gene Names for Muc15 D730046l02rik
Gene Description mucin 15 [Source:MGI Symbol;Acc:MGI:2442110],anoctamin 3 [Source:MGI Symbol;Acc:MGI:3613666]
Uniprot Name
CCDS Name
Gene GO
calcium activated phosphatidylcholine scrambling; integral component of membrane; cellular_component; plasma membrane; phospholipid scramblase activity; calcium activated galactosylceramide scrambling
integral component of membrane; biological_process; molecular_function
Homolog in other species ANO3,MUC15
Omim NO_OMIM,http://omim.org/entry/610110
Immgen Expression
LOW,LOW
LOW
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000074968
Chromosome 2
Coordinate 110,731,773     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 62
Allele Frequency
A:R0.48
G:V0.52
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL02751
Median Base Quality 38
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 
Polyphen Score 0.01
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved