Dlc1 - SNV Details



 Gene Information 
Gene Name Dlc1
Old Gene Names for Dlc1 A730069n07rik , Arhgap7
Gene Description deleted in liver cancer 1 [Source:MGI Symbol;Acc:MGI:1354949]
MGI phenotype Homozygous mutants die by E10.5 with variable defects in the neural tube, heart, brain and placenta.
Uniprot Name
CCDS Name
Gene GO
negative regulation of cell migration; activation of phospholipase C activity; hindbrain morphogenesis; heart morphogenesis; actin cytoskeleton organization; caveola; cytoskeleton organization; positive regulation of protein dephosphorylation; cytoplasm; negative regulation of Rho protein signal transduction; signal transduction; focal adhesion assembly; induction of apoptosis; positive regulation of Rho GTPase activity; activation of cysteine-type endopeptidase activity involved in apoptotic process; regulation of cell shape; intracellular; actin filament; protein binding; negative regulation of cell proliferation; vinculin binding; nucleus; regulation of actin cytoskeleton organization; neural tube closure; cytosol; SH2 domain binding; phospholipase binding; Rho GTPase activator activity; stress fiber; forebrain development; negative regulation of stress fiber assembly; cellular response to insulin stimulus; focal adhesion
Homolog in other species DLC1
Omim http://omim.org/entry/601562
Immgen Expression
LOW/MEDIAN(HIGH IN MF.RP.SP)
Gnf Expression
MEDIAN
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000031523
Chromosome 8
Coordinate 36,850,180     (Assembly: GRCm38)    
Ref Base G
Codon Change aCc/aTc
Var Base A
Zygosity Heterozygous
Read Depth 24
Allele Frequency
G:R0.58
A:V0.42
Amino Acid Position 447
Amino Acid Change T->I (Threonine -> Isoleucine)
Sample ID IGL01871
Median Base Quality 40.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 39 Other Mutations

 Predictions 
Polyphen Score 0.94
Polyphen Prediction Possibly damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved , Line Propagating