Abca16 - SNV Details



 Gene Information 
Gene Name Abca16
Old Gene Names for Abca16 Ay243472
Gene Description ATP-binding cassette, sub-family A (ABC1), member 16 [Source:MGI Symbol;Acc:MGI:2388711]
Uniprot Name
CCDS Name
Gene GO
ATPase activity; nucleoside-triphosphatase activity; cellular_component; nucleotide binding; ATP binding; biological_process; molecular_function
Immgen Expression
LOW
Gnf Expression
MEDIAN(HIGHER IN TESTIS)
MEDIAN(HIGHER IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000051900
Chromosome 7
Coordinate 120,439,199     (Assembly: GRCm38)    
Ref Base T
Codon Change Tat/Aat
Var Base A
Zygosity Heterozygous
Read Depth 38
Allele Frequency
T:R0.61
A:V0.40
Amino Acid Position 119
Amino Acid Change L->Q (Leucine -> Glutamine)
Sample ID IGL01320
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.47
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved