|Institutional Source||Beutler Lab|
|Gene Name||transmembrane 4 superfamily member 5|
|Essential gene?||Probably non essential (E-score: 0.065)|
|Stock #||R0009 (G1)|
|Chromosomal Location||70505244-70511178 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 70510712 bp (GRCm38)|
|Amino Acid Change||Alanine to Valine at position 179 (A179V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000019063 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019063] [ENSMUST00000021179]|
AA Change: A179V
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: A179V
|Meta Mutation Damage Score||0.5625|
|Coding Region Coverage||
|Validation Efficiency||100% (68/68)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is highly similar in sequence and structure to transmembrane 4 superfamily member 1. It may play a role in cell proliferation, and overexpression of this protein may be associated with the uncontrolled growth of tumour cells. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tm4sf5||
(F):5'- AGCCTGCTGTGTAAGCAGTTTCTC -3'
(R):5'- TGAAGGCCCACGTACACTCTTTCC -3'
(F):5'- GTAAGCAGTTTCTCTTAAATGACCCC -3'
(R):5'- AGGATTTCTCAGCCTCTACCC -3'