Ablim1 - SNV Details



 Gene Information 
Gene Name Ablim1
Old Gene Names for Ablim1 2210411c18rik , 9330196j19rik , Aw060987 , 2610209l21rik , 4833406p10rik , Av079770 , Aw215784 , Limab1
Gene Description actin-binding LIM protein 1 [Source:MGI Symbol;Acc:MGI:1194500]
MGI phenotype Mutant mice lacking the retina-specific isoform are healthy, fertile, and show no defects in retinal development or retinofugal projections.
Uniprot Name
CCDS Name
Gene GO
actin binding
actin cytoskeleton
axon guidance
cytoplasm
cytoskeleton organization
metal ion binding
positive regulation of transcription from RNA polymerase II promoter
protein binding
zinc ion binding
Homolog in other species ABLIM1
Immgen Expression
MEDIAN(HIGH IN BCELL GROUP, TGD GROUP, ABT GROUP, TACTIVATION GROUP, NK GROUP, DC.PDC.8-.SP, DC.PDC.8+.SP)
Gnf Expression
LOW/MEDIAN
LOW/MEDIAN(HIGH IN IMM.G1, IMM.G2, TRACHEA, ADIPOSETISSUE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000025085
Chromosome 19
Coordinate 57,152,290     (Assembly: GRCm38)    
Ref Base T
Codon Change gAa/gGa
Var Base C
Zygosity Heterozygous
Read Depth 52
Allele Frequency
T:0.50
C:0.50
Amino Acid Position 219
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL00847
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 24 Other Mutations

 Predictions 
Polyphen Score 0.01
Polyphen Prediction Benign
Sift Score 0.32
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved