Lpin1 - SNV Details



 Human Rare Diseases 
Genetic recurrent myoglobinuria

 Gene Information 
Gene Name Lpin1
Gene Description lipin 1 [Source:MGI Symbol;Acc:MGI:1891340]
Uniprot Name
CCDS Name
Gene GO
transcription coactivator activity; phosphatidate phosphatase activity; lipid metabolic process; mitochondrial outer membrane; positive regulation of transcription from RNA polymerase II promoter; cytoplasm; fatty acid catabolic process; regulation of fat cell differentiation; dephosphorylation; triglyceride mobilization; endoplasmic reticulum membrane; regulation of RNA biosynthetic process; positive regulation of histone deacetylation; actin cytoskeleton reorganization; transcription factor complex; RNA polymerase II transcription factor binding; protein binding; fat cell differentiation; nucleus; ruffle organization; histone deacetylase binding; negative regulation of transcription from RNA polymerase II promoter; triglyceride biosynthetic process; organ regeneration; cellular response to insulin stimulus; mitochondrial fission; transcription
DNA-templated; nuclear membrane; peroxisome proliferator activated receptor binding
Homolog in other species LPIN1
Omim http://omim.org/entry/605518
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, T.4MEM.SP)
Gnf Expression
MEDIAN(HIGH IN KIDNEY, LIVER, IMM.G2, LYMPHNODE, C2C12, UMBLICALCORD, OSTEO GROUP, EPIDERMIS TISSUES, BROWNFAT, HEART, SKELETALMUSCLE, IMM.G3, GI GROUP, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020593
Chromosome 12
Coordinate 16,553,992     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 27
Allele Frequency
G:R0.48
A:V0.52
Amino Acid Change H->Y (Histidine -> Tyrosine)
Sample ID IGL00510
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 27 Other Mutations

 Predictions 
Polyphen Score 0.42
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved