Tln1 - SNV Details



 Gene Information 
Gene Name Tln1
Gene Description talin 1 [Source:MGI Symbol;Acc:MGI:1099832]
MGI phenotype Mice homozygous for either one of two knock-out alleles display early developmental anomalies, reduced embryo size, and embryonic lethality due to impaired cell migration at the gastrulation stage.
Uniprot Name
CCDS Name
Gene GO
cytoskeletal anchoring at plasma membrane; insulin receptor binding; cell adhesion; intracellular membrane-bounded organelle; protein binding; ruffle; vinculin binding; cytoskeleton; LIM domain binding; actin cytoskeleton; structural molecule activity; cell-substrate junction assembly; structural constituent of cytoskeleton; ruffle membrane; plasma membrane; actin binding; focal adhesion; cortical actin cytoskeleton organization; centrosome
Homolog in other species TLN1
Omim http://omim.org/entry/186745
Immgen Expression
HIGH
Gnf Expression
MEDIAN/HIGH(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, IMM.G1, IMM.G3, OSTEO GROUP, C2C12, UMBLICALCORD, NIH.3T3, EPITH GROUP, TRACHEA, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
MEDIAN(HIGH IN NS GROUP)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000028465
Chromosome 4
Coordinate 43,551,297     (Assembly: GRCm38)    
Ref Base C
Var Base A
Zygosity Heterozygous
Read Depth 35
Allele Frequency
C:R0.57
A:V0.43
Amino Acid Change Disrupted splicing
Sample ID IGL00987
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved