|Institutional Source||Beutler Lab|
|Gene Name||multiple EGF-like-domains 10|
|Is this an essential gene?||Probably non essential (E-score: 0.164)|
|Stock #||R4874 (G1)|
|Chromosomal Location||57133090-57297467 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 57293858 bp (GRCm38)|
|Amino Acid Change||Valine to Isoleucine at position 1083 (V1083I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000075174 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000075770] [ENSMUST00000139892]|
AA Change: V1083I
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: V1083I
|Meta Mutation Damage Score||0.0597|
|Coding Region Coverage||
|Validation Efficiency||94% (51/54)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Mice homozygous for a targeted allele exhibit abnormal spacing of starburst amacrine cells and horizontal cells. Homozygotes for another targeted allele exhibit impaired phagocytosis of apoptotic cells by astrocytes. Mice heterozygous for this same allele exhibit mild disorganization of starburts amacrine cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Megf10||
(F):5'- ACATCTGTAGAGTTCTATTCCCTG -3'
(R):5'- CACCCAGTAGTCCTTTGATGTC -3'
(F):5'- TGTACAAGAAGTAGCAGCA -3'
(R):5'- GATGTCATTCACTGCTGCTG -3'