|Institutional Source||Beutler Lab|
|Gene Name||talin 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7294 (G1)|
|Chromosomal Location||43531519-43562691 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 43534399 bp|
|Amino Acid Change||Histidine to Glutamine at position 2253 (H2253Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030187 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030187]|
|Predicted Effect||probably benign
AA Change: H2253Q
PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
AA Change: H2253Q
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeletal protein that is concentrated in areas of cell-substratum and cell-cell contacts. The encoded protein plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. It codistributes with integrins in the cell surface membrane in order to assist in the attachment of adherent cells to extracellular matrices and of lymphocytes to other cells. The N-terminus of this protein contains elements for localization to cell-extracellular matrix junctions. The C-terminus contains binding sites for proteins such as beta-1-integrin, actin, and vinculin. [provided by RefSeq, Feb 2009]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tln1||
(F):5'- AAACACCAGGTCCTGCTCAG -3'
(R):5'- ACATGCGGGTAGTGAGCTAG -3'
(F):5'- TGCTCAGGTGCACACAGTG -3'
(R):5'- CGGGTAGTGAGCTAGGCTTC -3'