Incidental Mutation 'R4761:Slc35c1'
ID 356865
Institutional Source Beutler Lab
Gene Symbol Slc35c1
Ensembl Gene ENSMUSG00000049922
Gene Name solute carrier family 35, member C1
Synonyms E430007K15Rik, FUCT1
MMRRC Submission 042402-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.356) question?
Stock # R4761 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 92283109-92290863 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92289168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 113 (M113L)
Ref Sequence ENSEMBL: ENSMUSP00000137748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067631] [ENSMUST00000125276] [ENSMUST00000136718]
AlphaFold Q8BLX4
Predicted Effect probably damaging
Transcript: ENSMUST00000067631
AA Change: M126L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063461
Gene: ENSMUSG00000049922
AA Change: M126L

DomainStartEndE-ValueType
low complexity region 23 28 N/A INTRINSIC
Pfam:TPT 38 336 5.1e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125276
AA Change: M113L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119271
Gene: ENSMUSG00000049922
AA Change: M113L

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 damaging
Transcript: ENSMUST00000136718
AA Change: M113L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137748
Gene: ENSMUSG00000049922
AA Change: M113L

DomainStartEndE-ValueType
low complexity region 10 15 N/A INTRINSIC
Pfam:UAA 27 158 4.5e-7 PFAM
Meta Mutation Damage Score 0.6334 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 100% (69/69)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9630041A04Rik A G 9: 101,820,165 (GRCm39) D195G possibly damaging Het
Abcc8 G A 7: 45,762,499 (GRCm39) R1221C probably damaging Het
Adra1a T A 14: 66,964,880 (GRCm39) probably null Het
Akr1c6 A T 13: 4,497,010 (GRCm39) M98L probably benign Het
Alpk3 A G 7: 80,753,916 (GRCm39) Q1632R probably damaging Het
Arhgap24 G T 5: 102,812,080 (GRCm39) probably benign Het
Atp8b5 A G 4: 43,308,504 (GRCm39) *40W probably null Het
Bdkrb2 A T 12: 105,554,537 (GRCm39) M17L probably benign Het
C4bp T C 1: 130,581,158 (GRCm39) K117R possibly damaging Het
Cacng3 A T 7: 122,367,887 (GRCm39) T256S probably benign Het
Cep63 T C 9: 102,464,240 (GRCm39) probably benign Het
Ces2b T A 8: 105,563,193 (GRCm39) probably null Het
Col12a1 T A 9: 79,564,592 (GRCm39) D1696V probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dcst1 A T 3: 89,264,860 (GRCm39) M296K possibly damaging Het
Ehbp1l1 G A 19: 5,769,875 (GRCm39) P476L possibly damaging Het
Enpp1 A G 10: 24,517,849 (GRCm39) V858A possibly damaging Het
Ermp1 T A 19: 29,623,656 (GRCm39) E55D probably benign Het
Eya1 G A 1: 14,373,045 (GRCm39) L25F probably damaging Het
Foxn2 T A 17: 88,770,136 (GRCm39) probably null Het
Gabrb3 A T 7: 57,415,250 (GRCm39) T107S probably damaging Het
Gm26678 A T 3: 54,540,564 (GRCm39) noncoding transcript Het
Gm7897 G T 1: 173,657,536 (GRCm39) noncoding transcript Het
Gm9789 A T 16: 88,954,915 (GRCm39) Y8F unknown Het
Gsta3 A T 1: 21,330,381 (GRCm39) T78S probably benign Het
H2-Ab1 A G 17: 34,486,474 (GRCm39) N178D probably damaging Het
Herc6 G A 6: 57,639,885 (GRCm39) V1000I probably benign Het
Hrnr A C 3: 93,230,062 (GRCm39) K100T probably damaging Het
Ift57 T C 16: 49,522,263 (GRCm39) F2L probably damaging Het
Iqca1l A G 5: 24,756,981 (GRCm39) V232A probably benign Het
Kmt2a C A 9: 44,760,421 (GRCm39) R509L probably damaging Het
Lefty1 T A 1: 180,765,190 (GRCm39) C253S probably benign Het
Lhx3 TCCTACGGGCCGGCCC TCC 2: 26,091,435 (GRCm39) probably null Het
Mfsd9 T C 1: 40,813,635 (GRCm39) K227E possibly damaging Het
Mrps2 C G 2: 28,359,946 (GRCm39) H268D probably benign Het
Mrps27 T A 13: 99,548,739 (GRCm39) S292T probably benign Het
Ncaph T C 2: 126,948,036 (GRCm39) D683G probably benign Het
Nlrc3 A T 16: 3,781,514 (GRCm39) S632T probably damaging Het
Nsun6 T C 2: 15,034,872 (GRCm39) T198A possibly damaging Het
Oasl2 C T 5: 115,037,836 (GRCm39) H78Y probably benign Het
Or8b54 T C 9: 38,687,133 (GRCm39) V194A probably benign Het
Pcsk5 T C 19: 17,814,512 (GRCm39) D2G possibly damaging Het
Pdgfrb C A 18: 61,212,772 (GRCm39) S892Y probably damaging Het
Phf8-ps A T 17: 33,286,172 (GRCm39) V210D probably damaging Het
Por T G 5: 135,754,784 (GRCm39) probably benign Het
Ppp2r5e A T 12: 75,640,035 (GRCm39) V22D possibly damaging Het
Prcp A G 7: 92,566,933 (GRCm39) probably null Het
Ptchd3 A T 11: 121,727,224 (GRCm39) N366I possibly damaging Het
Rprd1b A G 2: 157,889,890 (GRCm39) E4G probably damaging Het
Semp2l1 A T 1: 32,585,588 (GRCm39) S107R possibly damaging Het
Serpinb6d C A 13: 33,855,250 (GRCm39) S308Y probably damaging Het
Slc12a7 T C 13: 73,961,708 (GRCm39) V1026A probably benign Het
Slc17a7 G A 7: 44,820,408 (GRCm39) V313I probably benign Het
Smgc A G 15: 91,729,717 (GRCm39) T178A possibly damaging Het
Spef2 A T 15: 9,653,040 (GRCm39) W914R probably damaging Het
Srfbp1 C A 18: 52,621,638 (GRCm39) P233Q probably damaging Het
Swt1 A C 1: 151,276,853 (GRCm39) C508G probably benign Het
Tex22 T C 12: 113,052,386 (GRCm39) V148A possibly damaging Het
Tle7 A T 8: 110,836,753 (GRCm39) D213V probably damaging Het
Tpd52 G A 3: 9,028,933 (GRCm39) P37L probably damaging Het
Utp25 T C 1: 192,796,230 (GRCm39) Y145C probably damaging Het
Vmn1r197 A T 13: 22,512,174 (GRCm39) M32L probably benign Het
Vmn2r100 T C 17: 19,741,630 (GRCm39) F114S possibly damaging Het
Xdh T A 17: 74,217,262 (GRCm39) I669F possibly damaging Het
Zfp940 G A 7: 29,545,578 (GRCm39) R110C 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
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
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
(F):5'- TGGTGGTGCAAAAGACCTGG -3'
(R):5'- AACAAGTACCTGCTGGACAG -3'

Sequencing Primer
(F):5'- GGTATTGATCTTTACGATTCCTGC -3'
(R):5'- CCTCCCTGCAGCTGGATAC -3'
Posted On 2015-11-11