|Institutional Source||Beutler Lab|
|Gene Name||engulfment and cell motility 1|
|Synonyms||C230095H21Rik, 6330578D22Rik, CED-12|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5471 (G1)|
|Chromosomal Location||20090596-20608353 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 20572385 bp|
|Amino Acid Change||Isoleucine to Valine at position 548 (I548V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000072334 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000072519]|
|Predicted Effect||probably benign
AA Change: I548V
PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
AA Change: I548V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0887|
|Coding Region Coverage||
|Validation Efficiency||96% (67/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired Sertoli cell phagocytosis of apoptotic male germ cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Elmo1||
(F):5'- TTTCAACAGGAAACTCAGGCCTAG -3'
(R):5'- GCACAATGCTGTCCTTGAATG -3'
(F):5'- GGAAACTCAGGCCTAGATTTTCC -3'
(R):5'- GCTGTCCTTGAATGACACTATG -3'