|Institutional Source||Beutler Lab|
|Gene Name||procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1|
|Synonyms||LH1, 2410042F05Rik, lysyl hydroxylase 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6298 (G1)|
|Chromosomal Location||147909753-147936767 bp(-) (GRCm38)|
|Type of Mutation||intron|
|DNA Base Change (assembly)||G to A at 147916315 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000019199 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019199]|
|Predicted Effect||probably benign
AA Change: T183I
AA Change: T183I
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||98% (79/81)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VI have deficiencies in lysyl hydroxylase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit hypotonia, reduced voluntary movement, abnormal aorta and skin collagen fibers, irregular vascular smooth muscle and premature death associated with thoracic cavity hemorrhage and aortic dissection. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Plod1||
(F):5'- TAAGATGGCACCCAGACTCC -3'
(R):5'- CCTCAGTGAATAGTAGCTCCTG -3'
(F):5'- CCCTTGACTTTGGTACAGATAGGAC -3'
(R):5'- GAATAGTAGCTCCTGTATCTATTGCC -3'