|Institutional Source||Beutler Lab|
|Gene Name||mutated in colorectal cancers|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1186 (G1)|
|Chromosomal Location||44425060-44812182 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 44759403 bp|
|Amino Acid Change||Valine to Alanine at position 48 (V48A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000087318 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000089874]|
|Predicted Effect||probably benign
AA Change: V48A
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: V48A
|Meta Mutation Damage Score||0.0793|
|Coding Region Coverage||
|Validation Efficiency||97% (69/71)|
|MGI Phenotype||Strain: 3889488; 4335844
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for hypomorphic or null mutations are viable and fertile with no gross abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mcc||
(F):5'- ATGGGGCATGGTCACATGACAC -3'
(R):5'- TGCCTAGAGAACCCAGATGAAGCAG -3'
(F):5'- CAGGAGGTGATTCTCTCACTCAG -3'
(R):5'- atccacctgcctctgtttc -3'