|Institutional Source||Beutler Lab|
|Gene Name||meningioma expressed antigen 5 (hyaluronidase)|
|Synonyms||2810009A20Rik, Hy5, 5830447M11Rik, 4833427O07Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5639 (G1)|
|Chromosomal Location||45750261-45783520 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 45776999 bp|
|Amino Acid Change||Isoleucine to Threonine at position 123 (I123T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026243 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026243]|
|Predicted Effect||probably damaging
AA Change: I123T
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I123T
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The dynamic modification of cytoplasmic and nuclear proteins by O-linked N-acetylglucosamine (O-GlcNAc) addition and removal on serine and threonine residues is catalyzed by OGT (MIM 300255), which adds O-GlcNAc, and MGEA5, a glycosidase that removes O-GlcNAc modifications (Gao et al., 2001 [PubMed 11148210]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene-trapped allele exhibit perinatal lethality associated with a developmental delay and respiratory failure. Mouse embryonic fibroblasts exhibit proliferative and mitotic defects, frequent cytokinesis failure, and loss of genomic stability. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mgea5||
(F):5'- GCTTCTCTACCCAAAACTTGAGTTC -3'
(R):5'- GCCTGCTATCACGTTAGGTAG -3'
(F):5'- ACCCAAAACTTGAGTTCCTTTTAAC -3'
(R):5'- CATCACTATATAGCCCAGGTTGG -3'