Incidental Mutation 'IGL00931:Slc35c1'
ID 26907
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc35c1
Ensembl Gene ENSMUSG00000049922
Gene Name solute carrier family 35, member C1
Synonyms FUCT1, E430007K15Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.347) question?
Stock # IGL00931
Quality Score
Status
Chromosome 2
Chromosomal Location 92452764-92460538 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92458894 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 89 (D89G)
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: D102G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000063461
Gene: ENSMUSG00000049922
AA Change: D102G

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: D89G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119271
Gene: ENSMUSG00000049922
AA Change: D89G

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 benign
Transcript: ENSMUST00000136718
AA Change: D89G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000137748
Gene: ENSMUSG00000049922
AA Change: D89G

DomainStartEndE-ValueType
low complexity region 10 15 N/A INTRINSIC
Pfam:UAA 27 158 4.5e-7 PFAM
Coding Region Coverage
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a2 G A 9: 71,215,969 probably benign Het
Col24a1 A G 3: 145,461,470 M1101V probably benign Het
Cyp4a12a G A 4: 115,301,956 R141Q possibly damaging Het
Ddx60 C T 8: 61,969,583 S618L probably benign Het
Dnmt3b T A 2: 153,686,250 probably benign Het
Dzip3 A T 16: 48,935,497 probably null Het
Fads2 A T 19: 10,066,285 D348E probably benign Het
Gpcpd1 G T 2: 132,538,118 F434L probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hoxa7 T C 6: 52,217,306 N34D possibly damaging Het
Ifitm1 A T 7: 140,968,256 M1L probably damaging Het
Lama2 G A 10: 27,006,776 S605L possibly damaging Het
Myh7b A G 2: 155,630,292 D1261G probably damaging Het
Ndufs3 A G 2: 90,902,502 probably null Het
Nedd4l T C 18: 65,172,399 I297T possibly damaging Het
Nfe2l2 A G 2: 75,675,998 V586A probably damaging Het
Slc1a2 T A 2: 102,756,112 W354R probably damaging Het
Tcaf3 T C 6: 42,597,228 T17A probably benign Het
Vmn2r72 T A 7: 85,749,646 M500L probably benign Het
Other mutations in Slc35c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Slc35c1 APN 2 92454358 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
R2329:Slc35c1 UTSW 2 92458695 nonsense probably null
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
Posted On 2013-04-17