Limd1 - SNV Details



 Gene Information 
Gene Name Limd1
Old Gene Names for Limd1 D9ertd192e , Aw822033
Gene Description LIM domains containing 1 [Source:MGI Symbol;Acc:MGI:1352502]
MGI phenotype Mice homozygous for a knock-out allele exhibit normal basal bone osteoclast numbers and bone density but are resistant to physiological and pathologic osteoclastogenic stimuli.
Uniprot Name
CCDS Name
Gene GO
negative regulation of transcription
DNA-dependent; negative regulation of hippo signaling cascade; transcription
DNA-dependent; cytoskeleton organization; cytoplasm; regulation of cell shape; zinc ion binding; negative regulation of canonical Wnt receptor signaling pathway; transcription corepressor activity; phosphorylation; adherens junction; response to hypoxia; gene silencing by miRNA; RNA-induced silencing complex; protein binding; cytoplasmic mRNA processing body; cytoplasmic mRNA processing body assembly; positive regulation of gene silencing by miRNA; nucleus; cell migration; negative regulation of osteoblast differentiation; focal adhesion; osteoblast development
Homolog in other species LIMD1
Omim http://omim.org/entry/604543
Immgen Expression
MEDIAN(HIGH IN BCELL GROUP, DC.PDC.8-.SP, DC.PDC.8+.SP)
Gnf Expression
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000025239
Chromosome 9
Coordinate 123,479,736     (Assembly: GRCm38)    
Ref Base T
Codon Change Tcc/Ccc
Var Base C
Zygosity Heterozygous
Read Depth 24
Allele Frequency
T:R0.62
C:V0.38
Amino Acid Position 167
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL01815
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 23 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.19
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved