Incidental Mutation 'IGL02185:Slc35a1'
ID 283601
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 # IGL02185
Quality Score
Status
Chromosome 4
Chromosomal Location 34663257-34687438 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34675584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 81 (V81A)
Ref Sequence ENSEMBL: ENSMUSP00000029970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029970]
AlphaFold Q61420
Predicted Effect probably benign
Transcript: ENSMUST00000029970
AA Change: V81A

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000029970
Gene: ENSMUSG00000028293
AA Change: V81A

DomainStartEndE-ValueType
Pfam:Nuc_sug_transp 8 314 6.4e-125 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124456
Predicted Effect unknown
Transcript: ENSMUST00000126033
AA Change: V44A
SMART Domains Protein: ENSMUSP00000119125
Gene: ENSMUSG00000028293
AA Change: V44A

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
Adh5 A G 3: 138,156,815 (GRCm39) D167G probably benign Het
C9orf72 A T 4: 35,197,046 (GRCm39) W340R probably damaging Het
Cand2 G A 6: 115,766,471 (GRCm39) A359T probably benign Het
Cnnm2 T C 19: 46,751,434 (GRCm39) V408A probably benign Het
Eloa A G 4: 135,740,290 (GRCm39) probably benign Het
Ern2 T C 7: 121,772,598 (GRCm39) probably benign Het
Hs6st3 A G 14: 120,106,296 (GRCm39) probably null Het
Hydin A T 8: 111,233,108 (GRCm39) I1736F possibly damaging Het
Ifrd2 A T 9: 107,468,290 (GRCm39) I253F probably benign Het
Kctd7 G A 5: 130,181,299 (GRCm39) V241I possibly damaging Het
Lcp1 T C 14: 75,466,740 (GRCm39) F616L possibly damaging Het
Lyst C T 13: 13,835,678 (GRCm39) Q1787* probably null Het
Mapkbp1 A T 2: 119,845,144 (GRCm39) T342S possibly damaging Het
Mcph1 A G 8: 18,719,006 (GRCm39) probably benign Het
Mctp2 T C 7: 71,730,571 (GRCm39) H868R probably benign Het
Mefv T C 16: 3,533,714 (GRCm39) T186A probably benign Het
Nol9 T A 4: 152,142,368 (GRCm39) I666N probably damaging Het
Or51t4 T A 7: 102,597,721 (GRCm39) N16K probably damaging Het
Or6c205 G T 10: 129,086,904 (GRCm39) C167F possibly damaging Het
Or8b8 A C 9: 37,809,531 (GRCm39) Y277S probably damaging Het
Pum2 T C 12: 8,798,955 (GRCm39) probably null Het
Rpgrip1 A C 14: 52,349,685 (GRCm39) K24N possibly damaging Het
Ryr3 T A 2: 112,797,548 (GRCm39) T122S probably damaging Het
Sfn A G 4: 133,328,636 (GRCm39) S149P probably benign Het
Slc27a2 T A 2: 126,409,736 (GRCm39) V306D probably damaging Het
Trav21-dv12 A T 14: 54,113,955 (GRCm39) D25V probably benign Het
Ttn T C 2: 76,598,878 (GRCm39) H11018R possibly damaging Het
Txn1 A T 4: 57,950,883 (GRCm39) Y49N probably benign Het
Ulk2 C T 11: 61,672,886 (GRCm39) A903T probably damaging Het
Vmn2r77 G A 7: 86,444,360 (GRCm39) M4I unknown Het
Vmn2r85 G T 10: 130,254,561 (GRCm39) L708I probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Vrk2 T A 11: 26,485,638 (GRCm39) R117* probably null Het
Xpo6 A T 7: 125,712,980 (GRCm39) probably benign Het
Zdhhc14 C A 17: 5,803,157 (GRCm39) T420K probably benign Het
Zfp334 G T 2: 165,228,869 (GRCm39) probably benign Het
Zfp958 T A 8: 4,678,990 (GRCm39) C338* probably null Het
Other mutations in Slc35a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01575:Slc35a1 APN 4 34,668,932 (GRCm39) missense probably benign 0.09
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 2015-04-16