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
integrin binding; cytoskeletal anchoring at plasma membrane; insulin receptor binding; cytoplasm; cell adhesion; intracellular membrane-bounded organelle; protein binding; cell surface; ruffle; vinculin binding; extracellular vesicular exosome; cytoskeleton; microtubule organizing center; LIM domain binding; actin cytoskeleton; structural molecule activity; protein complex binding; 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 Non-synonymous
Ensembl ID ENSMUSG00000028465
Chromosome 4
Coordinate 43,545,694     (Assembly: GRCm38)    
Ref Base G
Var Base T
Zygosity Heterozygous
Read Depth 23
Allele Frequency
G:R0.70
T:V0.30
Amino Acid Change A->E (Alanine -> Glutamic acid)
Sample ID IGL03061
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 51 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved