Abca12 - SNV Details



 Human Rare Diseases 
Harlequin ichthyosis
Congenital nonbullous ichthyosiform erythroderma
Lamellar ichthyosis

 Gene Information 
Gene Name Abca12
Old Gene Names for Abca12 4832428g11rik , 4833417a11rik
Gene Description ATP-binding cassette, sub-family A (ABC1), member 12 [Source:MGI Symbol;Acc:MGI:2676312]
MGI phenotype Mice homozygous for a null allele exhibit neonatal lethality associated with defective skin development and abnormal lung morphology.
Uniprot Name
CCDS Name
Gene GO
ATPase activity; epidermal lamellar body; lipid transporter activity; regulated secretory pathway; cytoplasm; keratinocyte differentiation; positive regulation of cholesterol efflux; keratinization; nucleoside-triphosphatase activity; protein binding; surfactant homeostasis; positive regulation of protein localization to cell surface; lung alveolus development; cytosol; mitochondrial inner membrane; nucleotide binding; secretion by cell; ceramide transport; ATP binding; plasma membrane; lipid homeostasis; receptor binding; establishment of skin barrier; phospholipid efflux; apolipoprotein A-I receptor binding; ATP catabolic process; protein localization to plasma membrane
Homolog in other species ABCA12
Omim http://omim.org/entry/607800
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN RETINA, UMBLICALCORD, DIGIS, EPIDERMIS TISSUES,TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000050296
Chromosome 1
Coordinate 71,284,099     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 14
Allele Frequency
A:R0.64
G:V0.36
Amino Acid Change L->P (Leucine -> Proline)
Sample ID IGL03260
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 30 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved