|Institutional Source||Beutler Lab|
|Synonyms||mimecan, SLRR3A, OG, 3110079A16Rik, mimican|
|Is this an essential gene?||Probably non essential (E-score: 0.219)|
|Stock #||R0116 (G1)|
|Chromosomal Location||49608046-49624501 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 49621038 bp|
|Amino Acid Change||Tyrosine to Phenylalanine at position 219 (Y219F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021822 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021818] [ENSMUST00000021822]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: Y219F
PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: Y219F
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.046|
|Coding Region Coverage||
|Validation Efficiency||94% (95/101)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family of proteins. The encoded protein induces ectopic bone formation in conjunction with transforming growth factor beta and may regulate osteoblast differentiation. High expression of the encoded protein may be associated with elevated heart left ventricular mass. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a disruption in this gene display reduced collagen fiber density and organization, as well as more variability in fibrilar diameter in both the skin and the cornea. Corneal clarity was unaffected whereas skin tensile strength was reduced. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ogn||
(F):5'- TGCTCCCTAGACAAACTTCAAAGGC -3'
(R):5'- AGCATACTCTGGACTGGACCTACAG -3'
(F):5'- CGTGGAGTATGCAATAGCATTC -3'
(R):5'- CATACTGCTTTAGCCATGTAACTG -3'