|Institutional Source||Beutler Lab|
|Gene Name||elastin microfibril interfacer 1|
|Synonyms||5830419M17Rik, gp115, EMILIN-1|
|Is this an essential gene?||Probably non essential (E-score: 0.134)|
|Stock #||R6807 (G1)|
|Chromosomal Location||30913402-30921277 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 30915527 bp|
|Amino Acid Change||Phenylalanine to Isoleucine at position 103 (F103I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031055 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031055]|
|Predicted Effect||probably benign
AA Change: F103I
PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: F103I
|Meta Mutation Damage Score||0.1347|
|Coding Region Coverage||
|Validation Efficiency||100% (72/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene display no goss abnormalities. However, histological defects occur in the skin and aorta relating to elastin fiber abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Emilin1||
(F):5'- TAGCTTAGGGTTCCAGCACAG -3'
(R):5'- AGTTTAGAGCATAGAGGTTTCCC -3'
(F):5'- TTAGGGTTCCAGCACAGGGAAAG -3'
(R):5'- AGTCCACTGAGATGGCTGC -3'