Incidental Mutation 'IGL01616:Slc35b1'
ID 92395
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc35b1
Ensembl Gene ENSMUSG00000020873
Gene Name solute carrier family 35, member B1
Synonyms Ugalt2
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # IGL01616
Quality Score
Status
Chromosome 11
Chromosomal Location 95275696-95282602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95279910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 178 (M178K)
Ref Sequence ENSEMBL: ENSMUSP00000156161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021243] [ENSMUST00000131193] [ENSMUST00000146556] [ENSMUST00000232252]
AlphaFold P97858
Predicted Effect probably benign
Transcript: ENSMUST00000021243
AA Change: M214K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000021243
Gene: ENSMUSG00000020873
AA Change: M214K

DomainStartEndE-ValueType
Pfam:TPT 12 309 1.3e-14 PFAM
Pfam:UAA 13 313 2.1e-58 PFAM
Pfam:EamA 170 309 1.9e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131193
SMART Domains Protein: ENSMUSP00000125307
Gene: ENSMUSG00000020873

DomainStartEndE-ValueType
Pfam:UAA 14 91 5.6e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143090
Predicted Effect probably benign
Transcript: ENSMUST00000146556
SMART Domains Protein: ENSMUSP00000125597
Gene: ENSMUSG00000020873

DomainStartEndE-ValueType
low complexity region 14 23 N/A INTRINSIC
Pfam:EmrE 38 149 3.9e-9 PFAM
Pfam:UAA 46 153 4.5e-30 PFAM
Pfam:EamA 63 146 1.4e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189860
Predicted Effect probably benign
Transcript: ENSMUST00000232252
AA Change: M178K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
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 nucleotide sugar transporter which is a member of solute carrier family 35. The transporters in this family are highly conserved hydrophobic proteins with multiple transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 T A 16: 85,684,702 (GRCm39) probably null Het
Afg3l1 T A 8: 124,228,746 (GRCm39) W771R probably damaging Het
Braf A G 6: 39,628,586 (GRCm39) S348P probably damaging Het
Cd200 T C 16: 45,217,419 (GRCm39) T112A possibly damaging Het
Cep350 T C 1: 155,828,993 (GRCm39) I304V probably benign Het
Fcsk G T 8: 111,617,108 (GRCm39) H388N possibly damaging Het
Fry A G 5: 150,323,064 (GRCm39) T1072A probably damaging Het
Fry A T 5: 150,362,276 (GRCm39) probably null Het
Gcdh C T 8: 85,620,288 (GRCm39) G8D probably damaging Het
Ivns1abp C A 1: 151,237,294 (GRCm39) T486K possibly damaging Het
Mat1a G A 14: 40,831,436 (GRCm39) V55M probably damaging Het
Or52p1 T C 7: 104,266,928 (GRCm39) F22S probably damaging Het
Pcnx3 C T 19: 5,717,287 (GRCm39) probably benign Het
Psrc1 C A 3: 108,294,008 (GRCm39) S275Y possibly damaging Het
Ptpn21 A G 12: 98,646,272 (GRCm39) L1062P probably damaging Het
Slc22a13b A C 9: 119,049,994 (GRCm39) probably benign Het
Slc6a11 A T 6: 114,111,829 (GRCm39) Q132L possibly damaging Het
Slc9a8 C T 2: 167,266,086 (GRCm39) T21I possibly damaging Het
Tox T C 4: 6,688,430 (GRCm39) T526A probably damaging Het
Ubr3 C T 2: 69,850,828 (GRCm39) P1749S probably benign Het
Wdfy3 C A 5: 102,061,126 (GRCm39) A1363S probably damaging Het
Zdhhc23 T A 16: 43,793,843 (GRCm39) H277L probably damaging Het
Other mutations in Slc35b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03151:Slc35b1 APN 11 95,281,212 (GRCm39) critical splice donor site probably null
R0026:Slc35b1 UTSW 11 95,281,468 (GRCm39) missense probably benign
R0026:Slc35b1 UTSW 11 95,281,468 (GRCm39) missense probably benign
R0125:Slc35b1 UTSW 11 95,277,353 (GRCm39) missense probably benign 0.01
R1331:Slc35b1 UTSW 11 95,276,689 (GRCm39) missense probably damaging 1.00
R2061:Slc35b1 UTSW 11 95,276,718 (GRCm39) missense possibly damaging 0.72
R2192:Slc35b1 UTSW 11 95,276,640 (GRCm39) missense probably damaging 1.00
R5283:Slc35b1 UTSW 11 95,275,814 (GRCm39) start gained probably benign
R5484:Slc35b1 UTSW 11 95,278,631 (GRCm39) missense probably damaging 1.00
R7620:Slc35b1 UTSW 11 95,278,691 (GRCm39) missense probably damaging 1.00
R8678:Slc35b1 UTSW 11 95,278,646 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09