|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 35 (CMP-sialic acid transporter), member 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7671 (G1)|
|Chromosomal Location||34663257-34687438 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 34673875 bp|
|Amino Acid Change||Histidine to Glutamine at position 150 (H150Q)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029970]|
|Predicted Effect||probably benign
AA Change: H150Q
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]
PHENOTYPE: Homozygous mutation of this gene results in lethality before weaning. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc35a1||
(F):5'- GGATGTGACCTTACCCTCGAAC -3'
(R):5'- GATACCCTTCAGTATATGCCTCCTG -3'
(F):5'- TCGAACATTTACAAGTCCATCCTAAG -3'
(R):5'- AGTCCAATCAGCTGAGGTACCTTG -3'