Incidental Mutation 'R2329:Slc35c1'
ID 245786
Institutional Source Beutler Lab
Gene Symbol Slc35c1
Ensembl Gene ENSMUSG00000049922
Gene Name solute carrier family 35, member C1
Synonyms E430007K15Rik, FUCT1
MMRRC Submission 040320-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.356) question?
Stock # R2329 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 92283109-92290863 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 92289040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 155 (Y155*)
Ref Sequence ENSEMBL: ENSMUSP00000137748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067631] [ENSMUST00000125276] [ENSMUST00000136718]
AlphaFold Q8BLX4
Predicted Effect probably null
Transcript: ENSMUST00000067631
AA Change: Y168*
SMART Domains Protein: ENSMUSP00000063461
Gene: ENSMUSG00000049922
AA Change: Y168*

low complexity region 23 28 N/A INTRINSIC
Pfam:TPT 38 336 5.1e-23 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000125276
AA Change: Y155*
SMART Domains Protein: ENSMUSP00000119271
Gene: ENSMUSG00000049922
AA Change: Y155*

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 null
Transcript: ENSMUST00000136718
AA Change: Y155*
SMART Domains Protein: ENSMUSP00000137748
Gene: ENSMUSG00000049922
AA Change: Y155*

low complexity region 10 15 N/A INTRINSIC
Pfam:UAA 27 158 4.5e-7 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.8%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A C 13: 77,451,444 (GRCm39) S843R probably benign Het
Adamts15 G T 9: 30,813,781 (GRCm39) R795S probably damaging Het
Adora2a T A 10: 75,162,017 (GRCm39) V52E probably damaging Het
Amph T A 13: 19,323,520 (GRCm39) L594Q probably benign Het
Batf3 A T 1: 190,840,646 (GRCm39) probably null Het
Ccdc146 C T 5: 21,513,610 (GRCm39) probably null Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Csn3 A G 5: 88,077,862 (GRCm39) T123A possibly damaging Het
Cspg4 A G 9: 56,795,834 (GRCm39) T1190A probably benign Het
Dab2 C A 15: 6,459,044 (GRCm39) Q298K possibly damaging Het
Dpp6 T C 5: 27,656,286 (GRCm39) probably null Het
Efcab6 C T 15: 83,834,249 (GRCm39) R453Q possibly damaging Het
Ern2 C T 7: 121,772,710 (GRCm39) M610I possibly damaging Het
Fnip1 A G 11: 54,356,933 (GRCm39) D38G probably damaging Het
Fosb T C 7: 19,041,110 (GRCm39) T128A probably benign Het
Gad2 G A 2: 22,558,301 (GRCm39) V340M probably damaging Het
Gm19684 T A 17: 36,439,345 (GRCm39) probably benign Het
Gstk1 T A 6: 42,223,848 (GRCm39) D86E possibly damaging Het
Hus1 A G 11: 8,957,492 (GRCm39) probably null Het
Kbtbd8 T C 6: 95,103,761 (GRCm39) I547T probably benign Het
Mrpl38 T A 11: 116,022,845 (GRCm39) H373L possibly damaging Het
Nostrin A T 2: 68,991,438 (GRCm39) T144S probably damaging Het
Prl8a6 T C 13: 27,621,050 (GRCm39) H60R probably benign Het
Ros1 A G 10: 52,038,983 (GRCm39) I329T probably damaging Het
Scd2 T A 19: 44,286,492 (GRCm39) Y107* probably null Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc34a3 T C 2: 25,119,422 (GRCm39) T483A possibly damaging Het
Susd1 T C 4: 59,379,715 (GRCm39) D304G possibly damaging Het
Taf5 C T 19: 47,063,563 (GRCm39) S371L probably benign Het
Tenm4 A G 7: 96,545,069 (GRCm39) T2362A probably benign Het
Tsg101 A T 7: 46,540,868 (GRCm39) D158E probably damaging Het
Ttn G A 2: 76,599,786 (GRCm39) P19102S probably damaging Het
Ttn A G 2: 76,608,412 (GRCm39) V17837A probably damaging Het
Uhrf1 C A 17: 56,617,671 (GRCm39) probably null Het
Ulk4 C T 9: 121,101,953 (GRCm39) E42K probably damaging Het
Vmn1r184 A T 7: 25,966,387 (GRCm39) L44F probably damaging Het
Zfp932 A T 5: 110,157,406 (GRCm39) H368L 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
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
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 2014-10-30