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 FUCT1, E430007K15Rik
MMRRC Submission 040320-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.405) question?
Stock # R2329 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 92452764-92460538 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 92458695 bp (GRCm38)
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*

DomainStartEndE-ValueType
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*

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

DomainStartEndE-ValueType
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: 77,303,325 S843R probably benign Het
Adamts15 G T 9: 30,902,485 R795S probably damaging Het
Adora2a T A 10: 75,326,183 V52E probably damaging Het
Amph T A 13: 19,139,350 L594Q probably benign Het
Batf3 A T 1: 191,108,449 probably null Het
Ccdc146 C T 5: 21,308,612 probably null Het
Crygs C T 16: 22,805,551 G102D possibly damaging Het
Csn3 A G 5: 87,930,003 T123A possibly damaging Het
Cspg4 A G 9: 56,888,550 T1190A probably benign Het
Dab2 C A 15: 6,429,563 Q298K possibly damaging Het
Dpp6 T C 5: 27,451,288 probably null Het
Efcab6 C T 15: 83,950,048 R453Q possibly damaging Het
Ern2 C T 7: 122,173,487 M610I possibly damaging Het
Fnip1 A G 11: 54,466,107 D38G probably damaging Het
Fosb T C 7: 19,307,185 T128A probably benign Het
Gad2 G A 2: 22,668,289 V340M probably damaging Het
Gm19684 T A 17: 36,128,453 probably benign Het
Gstk1 T A 6: 42,246,914 D86E possibly damaging Het
Hus1 A G 11: 9,007,492 probably null Het
Kbtbd8 T C 6: 95,126,780 I547T probably benign Het
Mrpl38 T A 11: 116,132,019 H373L possibly damaging Het
Nostrin A T 2: 69,161,094 T144S probably damaging Het
Prl8a6 T C 13: 27,437,067 H60R probably benign Het
Ros1 A G 10: 52,162,887 I329T probably damaging Het
Scd2 T A 19: 44,298,053 Y107* probably null Het
Setx GTGGCT GT 2: 29,154,061 1814 probably null Het
Slc34a3 T C 2: 25,229,410 T483A possibly damaging Het
Susd1 T C 4: 59,379,715 D304G possibly damaging Het
Taf5 C T 19: 47,075,124 S371L probably benign Het
Tenm4 A G 7: 96,895,862 T2362A probably benign Het
Tsg101 A T 7: 46,891,120 D158E probably damaging Het
Ttn G A 2: 76,769,442 P19102S probably damaging Het
Ttn A G 2: 76,778,068 V17837A probably damaging Het
Uhrf1 C A 17: 56,310,671 probably null Het
Ulk4 C T 9: 121,272,887 E42K probably damaging Het
Vmn1r184 A T 7: 26,266,962 L44F probably damaging Het
Zfp932 A T 5: 110,009,540 H368L probably benign Het
Other mutations in Slc35c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Slc35c1 APN 2 92454358 missense probably benign 0.00
IGL00931:Slc35c1 APN 2 92458894 missense probably benign 0.00
R0350:Slc35c1 UTSW 2 92459032 missense probably damaging 1.00
R0458:Slc35c1 UTSW 2 92454513 missense probably damaging 0.98
R0589:Slc35c1 UTSW 2 92454514 missense probably damaging 0.98
R1878:Slc35c1 UTSW 2 92459053 missense probably benign 0.00
R1997:Slc35c1 UTSW 2 92454639 missense probably benign 0.04
R2473:Slc35c1 UTSW 2 92454753 missense probably benign 0.32
R2568:Slc35c1 UTSW 2 92458880 missense probably benign 0.00
R4583:Slc35c1 UTSW 2 92458921 missense probably damaging 1.00
R4761:Slc35c1 UTSW 2 92458823 missense probably damaging 0.99
R5021:Slc35c1 UTSW 2 92459021 missense possibly damaging 0.61
R7296:Slc35c1 UTSW 2 92458739 missense probably damaging 1.00
R7877:Slc35c1 UTSW 2 92459057 missense probably damaging 1.00
R8446:Slc35c1 UTSW 2 92454362 missense probably benign 0.00
R8519:Slc35c1 UTSW 2 92454707 missense probably benign 0.05
Z1176:Slc35c1 UTSW 2 92458760 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGGCTGGATCCCTAACTTAC -3'
(R):5'- TGACCTCACTGCTGTGCAAG -3'

Sequencing Primer
(F):5'- GGCTGGATCCCTAACTTACTGAGTC -3'
(R):5'- GCATGGTAGACTTCCCCAC -3'
Posted On 2014-10-30