Incidental Mutation 'R0026:Slc35b1'
ID 15087
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: 0.949) question?
Stock # R0026 (G1)
Quality Score
Status Validated
Chromosome 11
Chromosomal Location 95275696-95282602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95281468 bp (GRCm39)
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

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 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: 78.7%
  • 3x: 68.7%
  • 10x: 42.4%
  • 20x: 22.6%
Validation Efficiency 96% (75/78)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 C T 7: 120,077,146 (GRCm39) probably benign Het
Acot10 G A 15: 20,666,322 (GRCm39) L140F probably benign Het
Asph A C 4: 9,601,361 (GRCm39) S129A probably damaging Het
Atrn T C 2: 130,799,840 (GRCm39) Y406H probably damaging Het
B4galt3 C T 1: 171,101,831 (GRCm39) probably benign Het
BC016579 T C 16: 45,460,730 (GRCm39) T113A probably benign Het
Bmpr1b A G 3: 141,576,494 (GRCm39) L113P probably benign Het
Casq1 T C 1: 172,046,967 (GRCm39) probably benign Het
Ccdc187 T C 2: 26,171,365 (GRCm39) D371G probably benign Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Cyp4b1 C T 4: 115,504,718 (GRCm39) G56D possibly damaging Het
Dock5 C A 14: 68,083,530 (GRCm39) E126D probably benign Het
Exph5 A T 9: 53,287,779 (GRCm39) D1620V probably benign Het
Fancd2os G T 6: 113,574,652 (GRCm39) T118N probably damaging Het
Fli1 A G 9: 32,387,880 (GRCm39) Y37H probably damaging Het
Gm17521 G A X: 121,939,239 (GRCm39) S43L probably benign Het
Gnb3 A G 6: 124,814,380 (GRCm39) V135A probably benign Het
Ibtk A G 9: 85,572,356 (GRCm39) V1278A probably benign Het
Ighv1-58 G A 12: 115,275,907 (GRCm39) T77I probably benign Het
Lgsn T A 1: 31,242,524 (GRCm39) V202D probably damaging Het
Madd A G 2: 91,006,053 (GRCm39) F381L possibly damaging Het
Ntf3 T A 6: 126,078,768 (GRCm39) N246I probably damaging Het
Pds5b G A 5: 150,673,295 (GRCm39) probably benign Het
Ppp3cb C T 14: 20,581,836 (GRCm39) V60I probably benign Het
Prc1 T C 7: 79,960,809 (GRCm39) probably benign Het
Prpf31 T A 7: 3,642,667 (GRCm39) N413K probably benign Het
Rapgef5 T C 12: 117,652,896 (GRCm39) S307P probably benign Het
Rbfox2 T C 15: 76,968,357 (GRCm39) T435A possibly damaging Het
Senp1 T C 15: 97,974,549 (GRCm39) R88G probably damaging Het
Slc44a5 G A 3: 153,945,907 (GRCm39) probably benign Het
Spata31e2 T A 1: 26,722,450 (GRCm39) D910V probably benign Het
Taf1d T A 9: 15,219,944 (GRCm39) S64R probably damaging Het
Trim6 T A 7: 103,875,016 (GRCm39) probably null Het
Ttn T C 2: 76,599,534 (GRCm39) T19186A probably damaging Het
Uchl4 A T 9: 64,142,653 (GRCm39) probably null Het
Usp32 T C 11: 84,922,900 (GRCm39) S673G possibly damaging Het
Utrn T C 10: 12,601,940 (GRCm39) probably benign Het
Vps13b T C 15: 35,923,447 (GRCm39) I3774T possibly damaging Het
Vwa3a A G 7: 120,379,434 (GRCm39) Q513R probably damaging Het
Yipf1 T A 4: 107,202,357 (GRCm39) L240* probably null Het
Other mutations in Slc35b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01616:Slc35b1 APN 11 95,279,910 (GRCm39) missense probably benign 0.01
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
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 2012-12-12