Incidental Mutation 'R2568:Slc35c1'
ID 254606
Institutional Source Beutler Lab
Gene Symbol Slc35c1
Ensembl Gene ENSMUSG00000049922
Gene Name solute carrier family 35, member C1
Synonyms E430007K15Rik, FUCT1
MMRRC Submission 040427-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.356) question?
Stock # R2568 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 92283109-92290863 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92289225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 94 (N94D)
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: N107D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000063461
Gene: ENSMUSG00000049922
AA Change: N107D

low complexity region 23 28 N/A INTRINSIC
Pfam:TPT 38 336 5.1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125276
AA Change: N94D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119271
Gene: ENSMUSG00000049922
AA Change: N94D

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 probably benign
Transcript: ENSMUST00000136718
AA Change: N94D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000137748
Gene: ENSMUSG00000049922
AA Change: N94D

low complexity region 10 15 N/A INTRINSIC
Pfam:UAA 27 158 4.5e-7 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730071L15Rik A T 11: 6,150,161 (GRCm39) probably benign Het
Abca13 A T 11: 9,283,310 (GRCm39) N3244I probably benign Het
Adgrf5 A G 17: 43,748,562 (GRCm39) T219A probably damaging Het
Adgrg5 A T 8: 95,660,649 (GRCm39) N92I probably damaging Het
Agt A C 8: 125,283,694 (GRCm39) V475G probably damaging Het
Akap6 A G 12: 52,934,061 (GRCm39) K518E possibly damaging Het
Apoh T G 11: 108,295,697 (GRCm39) D133E probably benign Het
Axdnd1 T A 1: 156,220,319 (GRCm39) M234L possibly damaging Het
Cacna1d A G 14: 29,804,468 (GRCm39) I1335T probably damaging Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cfap206 T A 4: 34,711,566 (GRCm39) K444* probably null Het
Clasp2 A G 9: 113,707,832 (GRCm39) I614M probably benign Het
Col6a4 A T 9: 105,940,275 (GRCm39) D1218E possibly damaging Het
Cplane1 T C 15: 8,230,753 (GRCm39) V1010A possibly damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
D130043K22Rik C T 13: 25,067,874 (GRCm39) T870M probably damaging Het
Dagla C A 19: 10,225,516 (GRCm39) A883S probably benign Het
Dhx30 A G 9: 109,926,263 (GRCm39) V87A probably damaging Het
Dtx1 C A 5: 120,848,249 (GRCm39) V44L possibly damaging Het
Ecm2 T A 13: 49,683,605 (GRCm39) S528T possibly damaging Het
Eeig2 T A 3: 108,886,164 (GRCm39) N356I probably benign Het
Egfem1 A T 3: 29,637,080 (GRCm39) N172I probably damaging Het
Fam13a T G 6: 58,912,594 (GRCm39) R686S probably damaging Het
Fam243 A G 16: 92,118,207 (GRCm39) L27P probably damaging Het
Fmo1 T A 1: 162,663,828 (GRCm39) I234L probably benign Het
Foxj2 C T 6: 122,805,331 (GRCm39) R68W probably damaging Het
Foxo6 A T 4: 120,125,961 (GRCm39) M278K probably benign Het
Fsip2 A G 2: 82,820,775 (GRCm39) S5503G probably benign Het
Gdf5 C G 2: 155,784,010 (GRCm39) R100G probably benign Het
Il1b A T 2: 129,209,242 (GRCm39) D129E probably damaging Het
Klhl29 A G 12: 5,141,350 (GRCm39) S545P probably damaging Het
Krt87 G T 15: 101,385,708 (GRCm39) R296S possibly damaging Het
Llgl1 T G 11: 60,599,638 (GRCm39) S509R probably damaging Het
Lmod1 A T 1: 135,291,702 (GRCm39) K186* probably null Het
Lrpprc C T 17: 85,034,077 (GRCm39) A973T probably damaging Het
Marco T C 1: 120,422,514 (GRCm39) H49R possibly damaging Het
Mylk4 T C 13: 32,906,001 (GRCm39) N394S probably null Het
Myo5a A G 9: 75,030,322 (GRCm39) Y147C probably damaging Het
Myo5a T C 9: 75,059,179 (GRCm39) V469A probably damaging Het
Myot A G 18: 44,470,283 (GRCm39) T87A probably benign Het
Nav2 A G 7: 49,247,312 (GRCm39) H2154R probably damaging Het
Nek10 A G 14: 14,999,112 (GRCm38) E1037G possibly damaging Het
Or1j13 T C 2: 36,369,986 (GRCm39) D52G probably damaging Het
Or52e4 A G 7: 104,705,878 (GRCm39) T142A probably benign Het
Or5k17 A G 16: 58,746,286 (GRCm39) V216A probably benign Het
Pitrm1 G T 13: 6,625,128 (GRCm39) V869F probably benign Het
Prdx1 T G 4: 116,550,997 (GRCm39) I156S probably benign Het
Rbks T A 5: 31,823,096 (GRCm39) T107S probably damaging Het
Ryr3 G A 2: 112,506,219 (GRCm39) R3468W probably damaging Het
Scn1a C T 2: 66,103,813 (GRCm39) D1805N probably damaging Het
Sirpa T C 2: 129,457,568 (GRCm39) V214A probably benign Het
Sorbs2 A T 8: 46,248,407 (GRCm39) K553* probably null Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Thg1l A G 11: 45,842,392 (GRCm39) V142A probably benign Het
Tiparp T A 3: 65,460,551 (GRCm39) Y513* probably null Het
Tmc6 A G 11: 117,663,646 (GRCm39) V522A probably benign Het
Trim39 T A 17: 36,580,056 (GRCm39) probably benign Het
Trrap G A 5: 144,780,179 (GRCm39) probably null Het
Tulp3 C T 6: 128,304,601 (GRCm39) V218I probably benign Het
Vmn1r38 T A 6: 66,753,955 (GRCm39) I54F probably benign Het
Vmn2r23 T A 6: 123,719,147 (GRCm39) Y833* probably null Het
Zfp810 A T 9: 22,190,534 (GRCm39) S125T probably benign 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
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
R5021:Slc35c1 UTSW 2 92,289,366 (GRCm39) missense possibly damaging 0.61
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

Sequencing Primer
Posted On 2014-12-04