Incidental Mutation 'IGL03151:Slc35b1'
ID411112
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc35b1
Ensembl Gene ENSMUSG00000020873
Gene Namesolute carrier family 35, member B1
SynonymsUgalt2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.932) question?
Stock #IGL03151
Quality Score
Status
Chromosome11
Chromosomal Location95384692-95391776 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 95390386 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021243] [ENSMUST00000131193] [ENSMUST00000146556] [ENSMUST00000232252]
Predicted Effect probably null
Transcript: ENSMUST00000021243
SMART Domains Protein: ENSMUSP00000021243
Gene: ENSMUSG00000020873

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 probably null
Transcript: ENSMUST00000232252
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700074P13Rik A G 6: 40,926,012 F142S probably damaging Het
Acot1 G A 12: 84,014,552 A211T probably damaging Het
Ampd1 T C 3: 103,092,470 probably null Het
Armc3 T G 2: 19,238,698 L75R probably damaging Het
Atp9b T C 18: 80,776,850 D573G probably benign Het
Baz1a T A 12: 54,909,149 probably null Het
BC037034 A G 5: 138,262,672 L237S possibly damaging Het
C1ra A T 6: 124,519,771 I389F probably benign Het
Ccdc87 T A 19: 4,841,557 N692K probably benign Het
Ccr9 A G 9: 123,774,573 probably benign Het
Ces4a G T 8: 105,148,197 probably null Het
Dazap1 G A 10: 80,280,920 probably benign Het
Dock5 A G 14: 67,866,067 Y45H probably damaging Het
Eloa A T 4: 136,010,421 Y409* probably null Het
Fam170a A G 18: 50,281,641 E118G probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Glra1 C T 11: 55,527,380 V180I probably damaging Het
Il17rb T C 14: 30,006,853 T28A probably benign Het
Ints9 T A 14: 65,032,340 V493E possibly damaging Het
Kcnq5 C T 1: 21,535,069 C204Y probably damaging Het
Npc1 A T 18: 12,219,275 N122K probably benign Het
Olfr124 G A 17: 37,805,268 G41D probably damaging Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Prss21 A G 17: 23,869,402 T114A probably damaging Het
Rab10 G A 12: 3,249,812 T193M probably benign Het
Serpini1 T A 3: 75,613,296 S67T probably benign Het
Sorbs2 A T 8: 45,799,713 H388L probably benign Het
Tfap2c T A 2: 172,557,190 C427* probably null Het
Ttn G T 2: 76,802,388 F14107L probably damaging Het
Upf1 G T 8: 70,335,387 T774K probably damaging Het
Vmn1r170 G A 7: 23,606,577 V135M probably benign Het
Vmn2r14 C T 5: 109,216,394 C552Y probably damaging Het
Zfp367 A G 13: 64,145,631 I147T probably damaging Het
Zfp952 T C 17: 33,003,008 S116P probably benign Het
Other mutations in Slc35b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01616:Slc35b1 APN 11 95389084 missense probably benign 0.01
R0026:Slc35b1 UTSW 11 95390642 missense probably benign
R0026:Slc35b1 UTSW 11 95390642 missense probably benign
R0125:Slc35b1 UTSW 11 95386527 missense probably benign 0.01
R1331:Slc35b1 UTSW 11 95385863 missense probably damaging 1.00
R2061:Slc35b1 UTSW 11 95385892 missense possibly damaging 0.72
R2192:Slc35b1 UTSW 11 95385814 missense probably damaging 1.00
R5283:Slc35b1 UTSW 11 95384988 start gained probably benign
R5484:Slc35b1 UTSW 11 95387805 missense probably damaging 1.00
Posted On2016-08-02