|Institutional Source||Beutler Lab|
|Gene Name||C1GALT1-specific chaperone 1|
|Synonyms||C81205, 1500002I11Rik, Cosmc|
|Is this an essential gene?||Possibly non essential (E-score: 0.383)|
|Stock #||R3966 (G1)|
|Chromosomal Location||38630785-38635087 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 38631576 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 181 (V181E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000059224 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058265]|
|Predicted Effect||probably benign
AA Change: V181E
PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: V181E
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||96% (47/49)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009]
PHENOTYPE: Male mice hemizygous for a knock-out allele exhibit embryonic lethality with hemorrhaging. Female mice heterozygous for a knock-out allele exhibit some embryonic lethality with hemorrhage and disorganized vascular system and surviving mice dieing postnatally. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in C1galt1c1||
(F):5'- TGAAAAGGCCAACGGATTTG -3'
(R):5'- GTGGTTGATGATGAGGAAAGCTTAC -3'
(F):5'- GTATTAAACACATCTTTTCCATCGGC -3'
(R):5'- TGATGAGGAAAGCTTACAAATATGC -3'