|Institutional Source||Beutler Lab|
|Is this an essential gene?||Possibly non essential (E-score: 0.276)|
|Stock #||R4154 (G1)|
|Chromosomal Location||97565128-97572703 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 97568953 bp|
|Amino Acid Change||Serine to Proline at position 237 (S237P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040877 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038160]|
|Predicted Effect||probably damaging
AA Change: S237P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: S237P
|Meta Mutation Damage Score||0.5353|
|Coding Region Coverage||
|Validation Efficiency||98% (51/52)|
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 that includes decorin, biglycan, fibromodulin, keratocan, epiphycan, and osteoglycin. In these bifunctional molecules, the protein moiety binds collagen fibrils and the highly charged hydrophilic glycosaminoglycans regulate interfibrillar spacings. Lumican is the major keratan sulfate proteoglycan of the cornea but is also distributed in interstitial collagenous matrices throughout the body. Lumican may regulate collagen fibril organization and circumferential growth, corneal transparency, and epithelial cell migration and tissue repair. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted disruptions of this gene have abnormally large and aberrantly contoured collagen fibrils forming a disorganized matrix in the tendon, skin, cornea and sclera, with consequent reductions in skin tensile strength and corneal clarity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lum||
(F):5'- TGTCTCGGCTTCTCTGAAAGG -3'
(R):5'- TCCGTGTATGACTGAGATAGAATTCC -3'
(F):5'- GGTCTCAAATCACTAGAGTACCTGG -3'
(R):5'- GAGATCAAGCTCGAGCAA -3'