Incidental Mutation 'R0026:Slc35b1'
ID 189185
Institutional Source Beutler Lab
Gene Symbol Slc35b1
Ensembl Gene ENSMUSG00000020873
Gene Name solute carrier family 35, member B1
Synonyms Ugalt2
MMRRC Submission 038321-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R0026 (G1)
Quality Score 41
Status Validated
Chromosome 11
Chromosomal Location 95384692-95391776 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95390642 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 294 (S294P)
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: S330P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021243
Gene: ENSMUSG00000020873
AA Change: S330P

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

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

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 benign
Transcript: ENSMUST00000232252
AA Change: S294P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.8%
  • 20x: 96.3%
Validation Efficiency 93% (70/75)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 138,066,805 (GRCm38) I585N possibly damaging Het
4931408C20Rik T A 1: 26,683,369 (GRCm38) D910V probably benign Het
A830005F24Rik C T 13: 48,514,372 (GRCm38) probably benign Het
Abca16 C T 7: 120,477,923 (GRCm38) probably benign Het
Acot10 G A 15: 20,666,236 (GRCm38) L140F probably benign Het
Adam19 G T 11: 46,136,259 (GRCm38) C573F probably damaging Het
Aff3 A G 1: 38,203,893 (GRCm38) S948P probably benign Het
Anxa3 T A 5: 96,838,401 (GRCm38) Y300N probably benign Het
BC016579 T C 16: 45,640,367 (GRCm38) T113A probably benign Het
Bmpr1b A G 3: 141,870,733 (GRCm38) L113P probably benign Het
Casq1 T C 1: 172,219,400 (GRCm38) probably benign Het
Cdc16 T A 8: 13,759,130 (GRCm38) probably null Het
Cep135 C T 5: 76,606,734 (GRCm38) R353* probably null Het
Cma1 A T 14: 55,942,164 (GRCm38) C188S probably damaging Het
Csf3r A G 4: 126,031,884 (GRCm38) T151A probably benign Het
Cyp4b1 C T 4: 115,647,521 (GRCm38) G56D possibly damaging Het
Dbn1 T C 13: 55,477,784 (GRCm38) E275G probably damaging Het
Dlgap2 C T 8: 14,727,363 (GRCm38) Q203* probably null Het
Ephb3 A G 16: 21,214,917 (GRCm38) D251G probably damaging Het
Fancd2os G T 6: 113,597,691 (GRCm38) T118N probably damaging Het
Gm10801 T C 2: 98,663,909 (GRCm38) probably benign Het
Got1l1 C T 8: 27,200,248 (GRCm38) V132I probably benign Het
H2-M9 T C 17: 36,641,527 (GRCm38) probably benign Het
Ibtk A G 9: 85,690,303 (GRCm38) V1278A probably benign Het
Kctd3 T C 1: 188,976,621 (GRCm38) T519A probably damaging Het
Lgsn T A 1: 31,203,443 (GRCm38) V202D probably damaging Het
Madd A G 2: 91,175,708 (GRCm38) F381L possibly damaging Het
Map1s G A 8: 70,914,638 (GRCm38) G729D probably damaging Het
Mlycd A G 8: 119,410,435 (GRCm38) I465V probably benign Het
Mrgprb1 T C 7: 48,447,204 (GRCm38) R108G possibly damaging Het
Mrgprx2 T A 7: 48,482,023 (GRCm38) H106L possibly damaging Het
Ncor1 T C 11: 62,438,429 (GRCm38) Y6C probably damaging Het
Nfkb1 T C 3: 135,591,573 (GRCm38) D773G probably damaging Het
Nxnl1 A G 8: 71,566,573 (GRCm38) S3P probably damaging Het
Olfr109 T A 17: 37,466,803 (GRCm38) V199D probably damaging Het
Olfr921 G A 9: 38,775,596 (GRCm38) V114I probably benign Het
Otud7a T C 7: 63,735,801 (GRCm38) F338L probably benign Het
Pdcl3 T A 1: 38,991,280 (GRCm38) L14Q probably damaging Het
Pla2g7 T A 17: 43,594,930 (GRCm38) probably benign Het
Prpf31 T A 7: 3,639,668 (GRCm38) N413K probably benign Het
Rapgef5 T C 12: 117,689,161 (GRCm38) S307P probably benign Het
Relt C A 7: 100,850,221 (GRCm38) E164* probably null Het
Rnf185 T C 11: 3,426,617 (GRCm38) D86G probably damaging Het
Rrm2b T C 15: 37,953,741 (GRCm38) E21G probably benign Het
Scn5a A G 9: 119,522,566 (GRCm38) I783T probably damaging Het
Senp1 T C 15: 98,076,668 (GRCm38) R88G probably damaging Het
Skint5 A T 4: 113,546,468 (GRCm38) probably benign Het
Slc5a2 T A 7: 128,270,053 (GRCm38) I335N probably damaging Het
Sstr1 T A 12: 58,212,858 (GRCm38) M89K probably damaging Het
Szt2 A T 4: 118,384,772 (GRCm38) S1612R possibly damaging Het
Taf1c T C 8: 119,604,236 (GRCm38) probably null Het
Taf1d T A 9: 15,308,648 (GRCm38) S64R probably damaging Het
Tmem125 A G 4: 118,542,073 (GRCm38) S54P possibly damaging Het
Ttf1 T A 2: 29,071,349 (GRCm38) I583N possibly damaging Het
Uchl4 A T 9: 64,235,371 (GRCm38) probably null Het
Unc5b A T 10: 60,774,592 (GRCm38) I482N possibly damaging Het
Unc80 C A 1: 66,521,584 (GRCm38) Q824K probably benign Het
Utrn T C 10: 12,726,196 (GRCm38) probably benign Het
Vmn2r61 T G 7: 42,275,474 (GRCm38) I484R possibly damaging Het
Vps13b T C 15: 35,923,301 (GRCm38) I3774T possibly damaging Het
Yipf1 T A 4: 107,345,160 (GRCm38) L240* probably null Het
Other mutations in Slc35b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01616:Slc35b1 APN 11 95,389,084 (GRCm38) missense probably benign 0.01
IGL03151:Slc35b1 APN 11 95,390,386 (GRCm38) critical splice donor site probably null
R0026:Slc35b1 UTSW 11 95,390,642 (GRCm38) missense probably benign
R0125:Slc35b1 UTSW 11 95,386,527 (GRCm38) missense probably benign 0.01
R1331:Slc35b1 UTSW 11 95,385,863 (GRCm38) missense probably damaging 1.00
R2061:Slc35b1 UTSW 11 95,385,892 (GRCm38) missense possibly damaging 0.72
R2192:Slc35b1 UTSW 11 95,385,814 (GRCm38) missense probably damaging 1.00
R5283:Slc35b1 UTSW 11 95,384,988 (GRCm38) start gained probably benign
R5484:Slc35b1 UTSW 11 95,387,805 (GRCm38) missense probably damaging 1.00
R7620:Slc35b1 UTSW 11 95,387,865 (GRCm38) missense probably damaging 1.00
R8678:Slc35b1 UTSW 11 95,387,820 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-13