|Institutional Source||Beutler Lab|
|Gene Name||epithelial cell adhesion molecule|
|Synonyms||GA733-2, Egp314, EpCAM, gp40, Ly74, EGP-2, CD326, panepithelial glycoprotein 314, TROP1, Ep-CAM, EpCAM1, Tacstd1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1612 (G1)|
|Chromosomal Location||87635979-87651106 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 87639938 bp|
|Amino Acid Change||Leucine to Proline at position 40 (L40P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000061935 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000053577]|
|Predicted Effect||possibly damaging
AA Change: L40P
PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: L40P
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||97% (69/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality during organogenesis with decreased embryo size, impaired labyrinth layer development and decreased number of trophoblast giant cells. Mice homozygous for another knock-out allele exhibit impaired intestinal tight junctions with lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Epcam||
(F):5'- CCAGCATTTCTGGCTCAAGACCAC -3'
(R):5'- GCCATCCAGGCCAAGGATTATTCAC -3'
(F):5'- TGGCTCAAGACCACTTCTTAAAGG -3'
(R):5'- ACTGGCTGAAGATACTTTCCAC -3'