Incidental Mutation 'IGL01575:Slc35a1'
ID 91225
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc35a1
Ensembl Gene ENSMUSG00000028293
Gene Name solute carrier family 35 (CMP-sialic acid transporter), member 1
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01575
Quality Score
Status
Chromosome 4
Chromosomal Location 34663257-34687438 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 34668932 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 294 (Q294K)
Ref Sequence ENSEMBL: ENSMUSP00000029970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029970]
AlphaFold Q61420
Predicted Effect probably benign
Transcript: ENSMUST00000029970
AA Change: Q294K

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000029970
Gene: ENSMUSG00000028293
AA Change: Q294K

DomainStartEndE-ValueType
Pfam:Nuc_sug_transp 8 314 6.4e-125 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126033
SMART Domains Protein: ENSMUSP00000119125
Gene: ENSMUSG00000028293

DomainStartEndE-ValueType
Pfam:Nuc_sug_transp 1 250 1.2e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151549
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc2 C T 2: 25,175,188 (GRCm39) probably benign Het
Atp10b G A 11: 43,063,548 (GRCm39) R161H probably benign Het
Boll A G 1: 55,362,807 (GRCm39) probably null Het
Cngb1 G A 8: 95,991,148 (GRCm39) P226S possibly damaging Het
Commd3 G A 2: 18,679,528 (GRCm39) probably null Het
Ddx46 C T 13: 55,801,996 (GRCm39) probably benign Het
Dmrtb1 A G 4: 107,541,265 (GRCm39) I32T probably benign Het
Dnah7a T C 1: 53,466,979 (GRCm39) probably benign Het
Dppa5a A G 9: 78,275,062 (GRCm39) I80T possibly damaging Het
Galntl6 T C 8: 58,880,710 (GRCm39) probably benign Het
Hmgcr A G 13: 96,793,103 (GRCm39) Y510H possibly damaging Het
Idua G T 5: 108,829,973 (GRCm39) R505L possibly damaging Het
Ifna15 A G 4: 88,476,044 (GRCm39) F147L probably damaging Het
Itga4 T C 2: 79,118,599 (GRCm39) S433P probably damaging Het
Kcnc1 T C 7: 46,077,523 (GRCm39) Y442H possibly damaging Het
Kmt2d A G 15: 98,744,736 (GRCm39) probably benign Het
Mpp7 A G 18: 7,403,365 (GRCm39) probably benign Het
Or14c39 T C 7: 86,344,501 (GRCm39) V279A probably benign Het
Or5p64 A C 7: 107,854,742 (GRCm39) V201G possibly damaging Het
Or6c75 A G 10: 129,337,436 (GRCm39) I228V probably benign Het
Pam16l T C 10: 43,400,411 (GRCm39) V55A probably benign Het
Phf14 T C 6: 11,990,050 (GRCm39) L693S probably damaging Het
Pkd1 A G 17: 24,792,102 (GRCm39) N1263S probably damaging Het
Rhbdl1 G T 17: 26,055,112 (GRCm39) A32E possibly damaging Het
Samd9l A G 6: 3,376,734 (GRCm39) S176P possibly damaging Het
Scn1a G T 2: 66,103,580 (GRCm39) F1893L probably damaging Het
Serpina3f C A 12: 104,184,699 (GRCm39) P281Q probably damaging Het
Sspo G A 6: 48,435,976 (GRCm39) S1154N probably benign Het
Tdrd6 A G 17: 43,938,871 (GRCm39) S726P probably benign Het
Tiam2 A T 17: 3,504,591 (GRCm39) E24V probably damaging Het
Tmf1 T C 6: 97,152,897 (GRCm39) E392G probably damaging Het
Tns2 T C 15: 102,021,626 (GRCm39) V1089A probably damaging Het
Tspyl1 C A 10: 34,159,086 (GRCm39) N270K probably damaging Het
Usp32 A T 11: 84,913,628 (GRCm39) V901D probably damaging Het
Vldlr A G 19: 27,224,031 (GRCm39) I764V probably benign Het
Wnk2 A G 13: 49,300,152 (GRCm39) V186A probably damaging Het
Zdhhc18 A G 4: 133,341,210 (GRCm39) V221A probably damaging Het
Other mutations in Slc35a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02185:Slc35a1 APN 4 34,675,584 (GRCm39) missense probably benign 0.08
BB004:Slc35a1 UTSW 4 34,669,021 (GRCm39) missense probably damaging 0.98
BB014:Slc35a1 UTSW 4 34,669,021 (GRCm39) missense probably damaging 0.98
PIT4581001:Slc35a1 UTSW 4 34,669,501 (GRCm39) missense possibly damaging 0.78
R0256:Slc35a1 UTSW 4 34,668,962 (GRCm39) missense probably benign 0.01
R0271:Slc35a1 UTSW 4 34,664,125 (GRCm39) missense probably benign 0.00
R1993:Slc35a1 UTSW 4 34,675,181 (GRCm39) missense probably damaging 0.99
R4583:Slc35a1 UTSW 4 34,664,146 (GRCm39) missense probably benign
R5259:Slc35a1 UTSW 4 34,683,322 (GRCm39) missense probably benign 0.14
R5759:Slc35a1 UTSW 4 34,675,032 (GRCm39) missense probably benign 0.04
R7410:Slc35a1 UTSW 4 34,675,034 (GRCm39) missense probably benign 0.00
R7663:Slc35a1 UTSW 4 34,675,493 (GRCm39) missense possibly damaging 0.92
R7671:Slc35a1 UTSW 4 34,673,875 (GRCm39) missense
R7785:Slc35a1 UTSW 4 34,675,148 (GRCm39) missense probably damaging 0.96
R7927:Slc35a1 UTSW 4 34,669,021 (GRCm39) missense probably damaging 0.98
R7971:Slc35a1 UTSW 4 34,664,161 (GRCm39) missense probably benign 0.00
R9407:Slc35a1 UTSW 4 34,675,181 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09