Npc1l1 - SNV Details



 Gene Information 
Gene Name Npc1l1
Old Gene Names for Npc1l1 9130221n23rik , Gm243
Gene Description NPC1-like 1 [Source:MGI Symbol;Acc:MGI:2685089]
Uniprot Name
CCDS Name
Gene GO
lipoprotein metabolic process; membrane; integral to membrane; drug binding; apical plasma membrane; myosin V binding; cholesterol homeostasis; brush border membrane; intestinal cholesterol absorption; cholesterol biosynthetic process; response to drug; hedgehog receptor activity; Rab GTPase binding; cholesterol transport
Homolog in other species NPC1L1
Omim http://omim.org/entry/608010
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)
Gnf Expression
LOW/MEDIAN(HIGH IN LARGEINTESTINE, SMALLINTESTINE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020447
Chromosome 11
Coordinate 6,214,581     (Assembly: GRCm38)    
Ref Base A
Codon Change cTc/cCc
Var Base G
Zygosity Heterozygous
Read Depth 25
Allele Frequency
A:R0.44
G:V0.56
Amino Acid Position 1156
Amino Acid Change L->P (Leucine -> Proline)
Sample ID IGL02098
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0.96
Polyphen Prediction Probably damaging
Sift Score 0.02
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved