|Institutional Source||Beutler Lab|
|Gene Name||core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1|
|Synonyms||T-synthase, core 1 beta3-Gal-T, 2210410E06Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5029 (G1)|
|Chromosomal Location||7844842-7875687 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 7863931 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 4 (K4E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047931 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040159]|
|Predicted Effect||possibly damaging
AA Change: K4E
PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: K4E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.176|
|Coding Region Coverage||
|Validation Efficiency||97% (61/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010]
PHENOTYPE: Embryos homozygous for a null allele show impaired angiogenesis, chaotic microvascular networks in brain, and fatal hemorrhage by E14. Eggs homozygous for another null allele show a slightly thinner zona pellucida. Mice homozygous for an ENU-induced allele develop thrombocytopenia and renal disease. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in C1galt1||
(F):5'- GAAGGGATTAACTTCCACAGGG -3'
(R):5'- ACAGAGCCTACCTTTATGTTGG -3'
(F):5'- CAGGGAATTAAACCTCAGAATACTTC -3'
(R):5'- GCTGGAATCTGCATTGAAGTTCATC -3'