Incidental Mutation 'R5021:Slc35c1'
ID 389177
Institutional Source Beutler Lab
Gene Symbol Slc35c1
Ensembl Gene ENSMUSG00000049922
Gene Name solute carrier family 35, member C1
Synonyms E430007K15Rik, FUCT1
MMRRC Submission 042612-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.356) question?
Stock # R5021 (G1)
Quality Score 222
Status Validated
Chromosome 2
Chromosomal Location 92283109-92290863 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92289366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 47 (Y47H)
Ref Sequence ENSEMBL: ENSMUSP00000137748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067631] [ENSMUST00000125276] [ENSMUST00000136718]
AlphaFold Q8BLX4
Predicted Effect probably benign
Transcript: ENSMUST00000067631
AA Change: Y60H

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000063461
Gene: ENSMUSG00000049922
AA Change: Y60H

DomainStartEndE-ValueType
low complexity region 23 28 N/A INTRINSIC
Pfam:TPT 38 336 5.1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125276
AA Change: Y47H

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000119271
Gene: ENSMUSG00000049922
AA Change: Y47H

DomainStartEndE-ValueType
low complexity region 10 15 N/A INTRINSIC
Pfam:UAA 27 330 2e-11 PFAM
Pfam:TPT 184 325 3.8e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000136718
AA Change: Y47H

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000137748
Gene: ENSMUSG00000049922
AA Change: Y47H

DomainStartEndE-ValueType
low complexity region 10 15 N/A INTRINSIC
Pfam:UAA 27 158 4.5e-7 PFAM
Meta Mutation Damage Score 0.1638 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.8%
Validation Efficiency 95% (39/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit partial perinatal and postnatal lethality, growth retardation, reduced fertility, leukocytosis, defective lung and primary lymph node development and altered lymphocyte rolling and adhesion. Mortality is increased on an inbred background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano5 A T 7: 51,205,933 (GRCm39) T242S probably benign Het
B3gnt4 G C 5: 123,649,010 (GRCm39) R125P probably damaging Het
Blvrb A C 7: 27,147,543 (GRCm39) M1L probably benign Het
Cep112 T A 11: 108,361,154 (GRCm39) H169Q possibly damaging Het
Clcn1 A T 6: 42,287,922 (GRCm39) K718* probably null Het
Clhc1 A G 11: 29,510,627 (GRCm39) N226S probably benign Het
Cpne1 T C 2: 155,940,193 (GRCm39) probably benign Het
Cspg4 G A 9: 56,805,014 (GRCm39) V1942I probably benign Het
Decr2 A T 17: 26,301,980 (GRCm39) L250Q probably damaging Het
Depdc5 A G 5: 33,136,758 (GRCm39) T1343A probably damaging Het
Eed A T 7: 89,621,513 (GRCm39) L45M probably damaging Het
Ep300 T A 15: 81,524,224 (GRCm39) S1351T unknown Het
Fam184b T A 5: 45,730,604 (GRCm39) Q476L probably benign Het
Gm10722 A C 9: 3,001,041 (GRCm39) Y39S probably benign Het
Herc1 A T 9: 66,377,608 (GRCm39) K3458M possibly damaging Het
Ift122 A G 6: 115,841,333 (GRCm39) D39G probably benign Het
Igf2bp1 A G 11: 95,864,832 (GRCm39) Y206H probably damaging Het
Ighv1-19 T C 12: 114,672,686 (GRCm39) I6V probably benign Het
Itm2c T C 1: 85,833,059 (GRCm39) I131T probably damaging Het
Kcnd3 A T 3: 105,566,070 (GRCm39) D417V probably damaging Het
Klf4 T C 4: 55,530,970 (GRCm39) E38G probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lct T C 1: 128,228,302 (GRCm39) M1064V probably benign Het
Map4 C T 9: 109,867,157 (GRCm39) Q265* probably null Het
Mcf2l T G 8: 13,061,808 (GRCm39) V893G probably damaging Het
Mlst8 C T 17: 24,696,193 (GRCm39) D179N possibly damaging Het
Mup6 T A 4: 59,964,352 (GRCm39) N18K probably damaging Het
Nbeal2 G A 9: 110,466,531 (GRCm39) R764W probably damaging Het
Ncoa6 A T 2: 155,248,869 (GRCm39) S1478R probably benign Het
Pcdhga1 C A 18: 37,796,876 (GRCm39) R627S probably damaging Het
Sacm1l A G 9: 123,411,393 (GRCm39) D394G probably damaging Het
Schip1 A G 3: 68,402,585 (GRCm39) T221A probably benign Het
Tspan32 A G 7: 142,568,715 (GRCm39) D70G probably damaging Het
Vmn2r68 T C 7: 84,882,942 (GRCm39) Y270C possibly damaging Het
Zfp777 A G 6: 48,019,061 (GRCm39) V291A probably damaging Het
Other mutations in Slc35c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Slc35c1 APN 2 92,284,703 (GRCm39) missense probably benign 0.00
IGL00931:Slc35c1 APN 2 92,289,239 (GRCm39) missense probably benign 0.00
R0350:Slc35c1 UTSW 2 92,289,377 (GRCm39) missense probably damaging 1.00
R0458:Slc35c1 UTSW 2 92,284,858 (GRCm39) missense probably damaging 0.98
R0589:Slc35c1 UTSW 2 92,284,859 (GRCm39) missense probably damaging 0.98
R1878:Slc35c1 UTSW 2 92,289,398 (GRCm39) missense probably benign 0.00
R1997:Slc35c1 UTSW 2 92,284,984 (GRCm39) missense probably benign 0.04
R2329:Slc35c1 UTSW 2 92,289,040 (GRCm39) nonsense probably null
R2473:Slc35c1 UTSW 2 92,285,098 (GRCm39) missense probably benign 0.32
R2568:Slc35c1 UTSW 2 92,289,225 (GRCm39) missense probably benign 0.00
R4583:Slc35c1 UTSW 2 92,289,266 (GRCm39) missense probably damaging 1.00
R4761:Slc35c1 UTSW 2 92,289,168 (GRCm39) missense probably damaging 0.99
R7296:Slc35c1 UTSW 2 92,289,084 (GRCm39) missense probably damaging 1.00
R7877:Slc35c1 UTSW 2 92,289,402 (GRCm39) missense probably damaging 1.00
R8446:Slc35c1 UTSW 2 92,284,707 (GRCm39) missense probably benign 0.00
R8519:Slc35c1 UTSW 2 92,285,052 (GRCm39) missense probably benign 0.05
Z1176:Slc35c1 UTSW 2 92,289,105 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAAGGTTATCATGCCGATAAAGACC -3'
(R):5'- CTCTTCTGCCACCATGAACAG -3'

Sequencing Primer
(F):5'- TTATCATGCCGATAAAGACCACTGAC -3'
(R):5'- TGAACAGGGCGCCTCTGAAG -3'
Posted On 2016-06-06