|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 #||R7663 (G1)|
|Chromosomal Location||34663257-34687438 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 34675493 bp|
|Amino Acid Change||Asparagine to Lysine at position 111 (N111K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029970 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029970]|
|Predicted Effect||possibly damaging
AA Change: N111K
PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: N111K
AA Change: N74K
|Coding Region Coverage||
|Validation Efficiency||99% (68/69)|
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'- GGGAGTCCTTGAAGAAATACCTCA -3'
(R):5'- AAGGCTGCTTGGTTTTCTGC -3'
(F):5'- CCTTGAAGAAATACCTCATCATTGAC -3'
(R):5'- GGCTGCTTGGTTTTCTGCCTTAC -3'