Incidental Mutation 'R5759:Slc35a1'
ID 501389
Institutional Source Beutler Lab
Gene Symbol Slc35a1
Ensembl Gene ENSMUSG00000028293
Gene Name solute carrier family 35 (CMP-sialic acid transporter), member 1
Synonyms
MMRRC Submission 043361-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5759 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 34663257-34687438 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 34675032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 132 (V132L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029970]
AlphaFold Q61420
Predicted Effect probably benign
Transcript: ENSMUST00000029970
AA Change: V169L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029970
Gene: ENSMUSG00000028293
AA Change: V169L

DomainStartEndE-ValueType
Pfam:Nuc_sug_transp 8 314 6.4e-125 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124456
Predicted Effect probably benign
Transcript: ENSMUST00000126033
AA Change: V132L

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000119125
Gene: ENSMUSG00000028293
AA Change: V132L

DomainStartEndE-ValueType
Pfam:Nuc_sug_transp 1 250 1.2e-86 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151549
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 95.1%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,774,419 (GRCm39) S1203P probably benign Het
Adamts1 A G 16: 85,594,936 (GRCm39) V341A possibly damaging Het
Arf2 G A 11: 103,874,459 (GRCm39) G144S probably benign Het
Atr A G 9: 95,756,455 (GRCm39) N862D probably benign Het
Cep295nl T C 11: 118,224,472 (GRCm39) H124R possibly damaging Het
Chd6 C T 2: 160,825,682 (GRCm39) V1141I possibly damaging Het
Chst5 C A 8: 112,616,842 (GRCm39) K259N probably benign Het
Dchs1 T A 7: 105,413,383 (GRCm39) D1144V probably damaging Het
Dmxl2 T C 9: 54,282,792 (GRCm39) Y2795C probably damaging Het
Dnah7b A G 1: 46,316,280 (GRCm39) N3131S probably damaging Het
Dnah7c G A 1: 46,654,527 (GRCm39) G1436R probably damaging Het
Emp2 T A 16: 10,102,374 (GRCm39) Y146F probably damaging Het
Exoc6 C T 19: 37,562,189 (GRCm39) Q148* probably null Het
Fam13b T C 18: 34,630,488 (GRCm39) D90G probably damaging Het
Fam186b T G 15: 99,177,598 (GRCm39) Y576S probably benign Het
Fras1 T C 5: 96,857,775 (GRCm39) V2023A probably benign Het
Grm5 A C 7: 87,675,808 (GRCm39) M441L probably damaging Het
Hhatl A G 9: 121,617,343 (GRCm39) Y297H probably damaging Het
Ifi30 A G 8: 71,219,188 (GRCm39) probably benign Het
Ing2 G T 8: 48,122,040 (GRCm39) N169K possibly damaging Het
Kat6a T G 8: 23,428,028 (GRCm39) S1128A probably benign Het
Madd T C 2: 90,992,420 (GRCm39) E1041G possibly damaging Het
Mcm3 CT CTT 1: 20,878,972 (GRCm39) probably null Het
Mfsd5 G A 15: 102,189,513 (GRCm39) G295D possibly damaging Het
Minar1 A T 9: 89,483,125 (GRCm39) N757K probably benign Het
Mmp20 T A 9: 7,628,378 (GRCm39) probably null Het
Mybphl T C 3: 108,282,070 (GRCm39) V100A probably benign Het
Ndfip2 T A 14: 105,539,750 (GRCm39) probably null Het
Or7e170 A G 9: 19,795,484 (GRCm39) V39A probably benign Het
Or7e175 T A 9: 20,049,228 (GRCm39) V272E probably benign Het
Or8b1c T A 9: 38,384,831 (GRCm39) S263T possibly damaging Het
Phf19 T G 2: 34,787,135 (GRCm39) D443A probably damaging Het
Piezo1 A G 8: 123,234,394 (GRCm39) V84A probably damaging Het
Septin9 A G 11: 117,243,094 (GRCm39) I94V probably benign Het
Sntg1 G A 1: 8,484,494 (GRCm39) S442L probably benign Het
Tcf25 A G 8: 124,108,196 (GRCm39) T84A probably benign Het
Tchhl1 C G 3: 93,378,863 (GRCm39) S522R probably damaging Het
Tmem106b A G 6: 13,075,041 (GRCm39) E76G probably damaging Het
Tnk2 C T 16: 32,499,482 (GRCm39) P932S probably benign Het
Trib1 G A 15: 59,526,350 (GRCm39) V307I probably benign Het
Trib3 A T 2: 152,185,215 (GRCm39) D11E probably benign Het
Trim34b T C 7: 103,980,640 (GRCm39) S243P possibly damaging Het
Vmn2r50 A G 7: 9,781,905 (GRCm39) I280T probably damaging Het
Zfp1010 A T 2: 176,956,765 (GRCm39) C244* probably null Het
Zfp445 G T 9: 122,682,211 (GRCm39) Q577K probably benign Het
Zfp599 T C 9: 22,160,957 (GRCm39) K403E probably damaging Het
Other mutations in Slc35a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01575:Slc35a1 APN 4 34,668,932 (GRCm39) missense probably benign 0.09
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
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
Predicted Primers PCR Primer
(F):5'- AACTATGTCATTCTAAAGCGGGAGG -3'
(R):5'- CAAGGACTCCCGTTAGGTGAAC -3'

Sequencing Primer
(F):5'- TCATTCTAAAGCGGGAGGGAAGC -3'
(R):5'- AGGTGAACGTATTGCCTGTTGC -3'
Posted On 2017-12-01