|Institutional Source||Beutler Lab|
|Gene Name||lysyl oxidase-like 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5484 (G1)|
|Chromosomal Location||58287738-58313186 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 58290782 bp|
|Amino Acid Change||Valine to Alanine at position 597 (V597A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000057406 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000061799]|
|Predicted Effect||possibly damaging
AA Change: V597A
PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: V597A
|Meta Mutation Damage Score||0.1470|
|Coding Region Coverage||
|Validation Efficiency||97% (76/78)|
FUNCTION: This gene encodes a member of the lysyl oxidase family of copper-dependent enzymes that catalyze the formation of lysine-derived crosslinks in proteins such as collagen and elastin. The encoded preproprotein undergoes proteolytic processing to generate the mature, functional enzyme. Mice lacking the encoded protein fail to deposit normal elastic fibers in the uterine tract post partum and develop pelvic organ prolapse, enlarged airspaces of the lung, loose skin and vascular abnormalities with concomitant tropoelastin accumulation. [provided by RefSeq, Sep 2016]
PHENOTYPE: Elastic fiber homeostasis is disrupted in homozygous mutant mice, resulting in loose skin, abnormal lung morphology, intestinal defects, and post partum uterine prolapse. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Loxl1||
(F):5'- AATACCCCATAGCCTGCCTG -3'
(R):5'- TGTGGCCTCAGATCTCTGTC -3'
(F):5'- TGAGCTCCATCGTGAGCACTC -3'
(R):5'- GGCCTCAGATCTCTGTCTCCTAC -3'