Incidental Mutation 'IGL01575:Slc35a1'
ID91225
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc35a1
Ensembl Gene ENSMUSG00000028293
Gene Namesolute carrier family 35 (CMP-sialic acid transporter), member 1
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01575
Quality Score
Status
Chromosome4
Chromosomal Location34663257-34687438 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 34668932 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 294 (Q294K)
Ref Sequence ENSEMBL: ENSMUSP00000029970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029970]
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: 25,285,176 probably benign Het
Atp10b G A 11: 43,172,721 R161H probably benign Het
Boll A G 1: 55,323,648 probably null Het
Cngb1 G A 8: 95,264,520 P226S possibly damaging Het
Commd3 G A 2: 18,674,717 probably null Het
Ddx46 C T 13: 55,654,183 probably benign Het
Dmrtb1 A G 4: 107,684,068 I32T probably benign Het
Dnah7a T C 1: 53,427,820 probably benign Het
Dppa5a A G 9: 78,367,780 I80T possibly damaging Het
Galntl6 T C 8: 58,427,676 probably benign Het
Gm9803 T C 10: 43,524,415 V55A probably benign Het
Hmgcr A G 13: 96,656,595 Y510H possibly damaging Het
Idua G T 5: 108,682,107 R505L possibly damaging Het
Ifna15 A G 4: 88,557,807 F147L probably damaging Het
Itga4 T C 2: 79,288,255 S433P probably damaging Het
Kcnc1 T C 7: 46,428,099 Y442H possibly damaging Het
Kmt2d A G 15: 98,846,855 probably benign Het
Mpp7 A G 18: 7,403,365 probably benign Het
Olfr292 T C 7: 86,695,293 V279A probably benign Het
Olfr488 A C 7: 108,255,535 V201G possibly damaging Het
Olfr790 A G 10: 129,501,567 I228V probably benign Het
Phf14 T C 6: 11,990,051 L693S probably damaging Het
Pkd1 A G 17: 24,573,128 N1263S probably damaging Het
Rhbdl1 G T 17: 25,836,138 A32E possibly damaging Het
Samd9l A G 6: 3,376,734 S176P possibly damaging Het
Scn1a G T 2: 66,273,236 F1893L probably damaging Het
Serpina3f C A 12: 104,218,440 P281Q probably damaging Het
Sspo G A 6: 48,459,042 S1154N probably benign Het
Tdrd6 A G 17: 43,627,980 S726P probably benign Het
Tiam2 A T 17: 3,454,316 E24V probably damaging Het
Tmf1 T C 6: 97,175,936 E392G probably damaging Het
Tns2 T C 15: 102,113,191 V1089A probably damaging Het
Tspyl1 C A 10: 34,283,090 N270K probably damaging Het
Usp32 A T 11: 85,022,802 V901D probably damaging Het
Vldlr A G 19: 27,246,631 I764V probably benign Het
Wnk2 A G 13: 49,146,676 V186A probably damaging Het
Zdhhc18 A G 4: 133,613,899 V221A probably damaging Het
Other mutations in Slc35a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02185:Slc35a1 APN 4 34675584 missense probably benign 0.08
PIT4581001:Slc35a1 UTSW 4 34669501 missense possibly damaging 0.78
R0256:Slc35a1 UTSW 4 34668962 missense probably benign 0.01
R0271:Slc35a1 UTSW 4 34664125 missense probably benign 0.00
R1993:Slc35a1 UTSW 4 34675181 missense probably damaging 0.99
R4583:Slc35a1 UTSW 4 34664146 missense probably benign
R5259:Slc35a1 UTSW 4 34683322 missense probably benign 0.14
R5759:Slc35a1 UTSW 4 34675032 missense probably benign 0.04
R7410:Slc35a1 UTSW 4 34675034 missense probably benign 0.00
R7663:Slc35a1 UTSW 4 34675493 missense possibly damaging 0.92
R7671:Slc35a1 UTSW 4 34673875 missense
R7785:Slc35a1 UTSW 4 34675148 missense probably damaging 0.96
Posted On2013-12-09