Dock1 - SNV Details



 Gene Information 
Gene Name Dock1
Old Gene Names for Dock1 9130006g06rik , Ai854900 , D630004b07rik
Gene Description dedicator of cytokinesis 1 [Source:MGI Symbol;Acc:MGI:2429765]
MGI phenotype Mice homozygous for a null allele exhibit postnatal lethality associated with abnormal muscle development and failure of lungs to inflate.
Uniprot Name
CCDS Name
Gene GO
membrane; apoptotic process; cytoplasm; SH3 domain binding; protein binding; binding; guanyl-nucleotide exchange factor activity; cell migration; heme binding; GTP binding; phagocytosis; electron carrier activity; GTPase binding
Homolog in other species DOCK1
Omim http://omim.org/entry/601403
Immgen Expression
LOW(HIGH IN MYELOID GROUP, DC.LC.SK, TGD.SP )
Gnf Expression
MEDIAN(HIGH IN M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000058325
Chromosome 7
Coordinate 134,753,377     (Assembly: GRCm38)    
Ref Base A
Codon Change gAc/gGc
Var Base G
Zygosity Heterozygous
Read Depth 166
Allele Frequency
A:R0.63
G:V0.37
Amino Acid Position 334
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL01586
Median Base Quality 38.5
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.11
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved