|Institutional Source||Beutler Lab|
|Gene Name||hyaluronan synthase 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1648 (G1)|
|Chromosomal Location||17843323-17855205 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 17849985 bp|
|Amino Acid Change||Tyrosine to Histidine at position 225 (Y225H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000003762 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000003762]|
|Predicted Effect||probably damaging
AA Change: Y225H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y225H
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.6694|
|Coding Region Coverage||
|Validation Efficiency||95% (73/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and N-acetylglucosamine residues that are linked by beta-1-3 and beta-1-4 glycosidic bonds. HA is synthesized by membrane-bound synthase at the inner surface of the plasma membrane, and the chains are extruded through pore-like structures into the extracellular space. It serves a variety of functions, including space filling, lubrication of joints, and provision of a matrix through which cells can migrate. HA is actively produced during wound healing and tissue repair to provide a framework for ingrowth of blood vessels and fibroblasts. Changes in the serum concentration of HA are associated with inflammatory and degenerative arthropathies such as rheumatoid arthritis. In addition, the interaction of HA with the leukocyte receptor CD44 is important in tissue-specific homing by leukocytes, and overexpression of HA receptors has been correlated with tumor metastasis. HAS1 is a member of the newly identified vertebrate gene family encoding putative hyaluronan synthases, and its amino acid sequence shows significant homology to the hasA gene product of Streptococcus pyogenes, a glycosaminoglycan synthetase (DG42) from Xenopus laevis, and a recently described murine hyaluronan synthase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and appear grossly normal. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Has1||
(F):5'- TGAATGAGAGTCTGAACGTGTGATGAC -3'
(R):5'- TGTGGGATGGCAACTACCATCAGC -3'
(F):5'- cacacacacacacacacac -3'
(R):5'- TACCATCAGCCCTGGGAAC -3'