Incidental Mutation 'R2192:Slc35b1'
ID 238232
Institutional Source Beutler Lab
Gene Symbol Slc35b1
Ensembl Gene ENSMUSG00000020873
Gene Name solute carrier family 35, member B1
Synonyms Ugalt2
MMRRC Submission 040194-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # R2192 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 95275696-95282602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95276640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 40 (Y40H)
Ref Sequence ENSEMBL: ENSMUSP00000156161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021243] [ENSMUST00000037502] [ENSMUST00000131193] [ENSMUST00000146556] [ENSMUST00000232252]
AlphaFold P97858
Predicted Effect probably damaging
Transcript: ENSMUST00000021243
AA Change: Y76H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021243
Gene: ENSMUSG00000020873
AA Change: Y76H

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: ENSMUST00000037502
SMART Domains Protein: ENSMUSP00000049162
Gene: ENSMUSG00000038893

DomainStartEndE-ValueType
low complexity region 3 27 N/A INTRINSIC
Pfam:FAM117 86 397 3.6e-116 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000131193
AA Change: Y76H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125307
Gene: ENSMUSG00000020873
AA Change: Y76H

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
AA Change: V38A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125597
Gene: ENSMUSG00000020873
AA Change: V38A

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 damaging
Transcript: ENSMUST00000232252
AA Change: Y40H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d A T 2: 131,403,289 (GRCm39) M267K probably damaging Het
Aen T C 7: 78,555,793 (GRCm39) probably null Het
Ano2 A G 6: 125,992,502 (GRCm39) D825G probably damaging Het
Bdh2 T C 3: 135,001,025 (GRCm39) S142P probably damaging Het
Celsr1 A G 15: 85,800,924 (GRCm39) L2507P possibly damaging Het
Ces3a T C 8: 105,782,212 (GRCm39) F308S probably benign Het
Cfap47 C T X: 78,454,218 (GRCm39) R1646Q probably damaging Het
Chd4 T A 6: 125,082,320 (GRCm39) M603K probably damaging Het
Cit T C 5: 116,106,068 (GRCm39) V984A probably benign Het
Clstn3 A T 6: 124,436,166 (GRCm39) D194E probably damaging Het
Ctdp1 T C 18: 80,492,696 (GRCm39) R600G probably benign Het
Ctnnd1 C T 2: 84,439,907 (GRCm39) G801D probably damaging Het
Dgkg A G 16: 22,407,049 (GRCm39) F179L probably damaging Het
Dlg3 G A X: 99,817,827 (GRCm39) D379N probably damaging Het
Drd2 G T 9: 49,314,571 (GRCm39) R267S probably benign Het
Dsg1b T C 18: 20,542,675 (GRCm39) *1061Q probably null Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Edc3 T C 9: 57,620,826 (GRCm39) V49A probably damaging Het
Ern1 G A 11: 106,300,750 (GRCm39) T548I probably benign Het
Fam186a T C 15: 99,838,192 (GRCm39) D2684G possibly damaging Het
Fam20a A G 11: 109,565,449 (GRCm39) M454T probably benign Het
Fbp2 A G 13: 63,006,056 (GRCm39) M19T possibly damaging Het
Frmd4b A T 6: 97,464,577 (GRCm39) C47S probably damaging Het
Gtf2h1 T A 7: 46,464,747 (GRCm39) I388N possibly damaging Het
Hectd4 T C 5: 121,453,206 (GRCm39) V571A possibly damaging Het
Helz2 T A 2: 180,870,841 (GRCm39) K2832* probably null Het
Herc1 T A 9: 66,372,688 (GRCm39) D3081E probably damaging Het
Hmcn1 A T 1: 150,591,566 (GRCm39) S1878T probably damaging Het
Iars1 A G 13: 49,841,605 (GRCm39) probably null Het
Il17rd A T 14: 26,816,835 (GRCm39) K180M probably damaging Het
Ints6l T A X: 55,550,110 (GRCm39) H678Q probably benign Het
Khdrbs1 A G 4: 129,613,830 (GRCm39) probably null Het
Lce3a A C 3: 92,832,837 (GRCm39) S88A unknown Het
Lgals12 C T 19: 7,578,606 (GRCm39) probably null Het
Lnpk T C 2: 74,399,373 (GRCm39) T57A probably benign Het
Lrp2bp C T 8: 46,466,206 (GRCm39) T105I probably benign Het
Lrrc4c C G 2: 97,459,657 (GRCm39) N94K possibly damaging Het
Mag A T 7: 30,600,066 (GRCm39) Y571* probably null Het
Mbd1 T A 18: 74,410,449 (GRCm39) D583E probably damaging Het
Mill1 T A 7: 17,998,544 (GRCm39) Y251* probably null Het
Mllt10 T C 2: 18,211,871 (GRCm39) I928T probably benign Het
Ms4a18 T C 19: 10,991,029 (GRCm39) T22A probably benign Het
Mtmr14 T C 6: 113,257,700 (GRCm39) F250L probably damaging Het
Mtmr3 A T 11: 4,449,032 (GRCm39) W244R probably damaging Het
Myorg A G 4: 41,497,704 (GRCm39) I642T probably damaging Het
Nat10 C A 2: 103,556,522 (GRCm39) E885D probably benign Het
Nbeal1 T A 1: 60,321,054 (GRCm39) L2055H probably damaging Het
Necab3 T A 2: 154,388,999 (GRCm39) I192F possibly damaging Het
Nedd4 T A 9: 72,650,000 (GRCm39) N783K probably damaging Het
Nf2 A T 11: 4,749,899 (GRCm39) W61R probably damaging Het
Nox4 T A 7: 87,023,588 (GRCm39) F491L probably benign Het
Omt2b G A 9: 78,235,457 (GRCm39) probably benign Het
Or4c125 A T 2: 89,170,009 (GRCm39) Y212* probably null Het
Or4c127 T A 2: 89,832,774 (GRCm39) I8N probably damaging Het
Or8i2 A G 2: 86,852,855 (GRCm39) V11A probably benign Het
Osbpl5 A T 7: 143,247,596 (GRCm39) Y723* probably null Het
Otop2 T C 11: 115,217,757 (GRCm39) S198P possibly damaging Het
Pgam5 T G 5: 110,413,785 (GRCm39) H126P probably damaging Het
Phip A T 9: 82,753,868 (GRCm39) N1625K probably damaging Het
Phospho2 T A 2: 69,626,451 (GRCm39) Y202* probably null Het
Pkd1l3 T A 8: 110,347,156 (GRCm39) H176Q unknown Het
Plxdc2 A G 2: 16,570,147 (GRCm39) R109G probably damaging Het
Prorsd1 T C 11: 29,463,592 (GRCm39) K57E probably benign Het
Rnf150 A T 8: 83,591,020 (GRCm39) R128W probably damaging Het
Samm50 G A 15: 84,084,625 (GRCm39) probably null Het
Skint6 A T 4: 112,722,909 (GRCm39) Y889* probably null Het
Speg A G 1: 75,394,371 (GRCm39) H1722R probably damaging Het
Suz12 T C 11: 79,913,024 (GRCm39) L356P probably damaging Het
Tln2 T G 9: 67,262,503 (GRCm39) I585L probably damaging Het
Trim2 G A 3: 84,098,225 (GRCm39) Q359* probably null Het
Ttc28 T C 5: 111,371,362 (GRCm39) Y635H probably damaging Het
Ttn C T 2: 76,543,549 (GRCm39) E33146K probably damaging Het
Vcp G T 4: 42,982,547 (GRCm39) T715K probably benign Het
Vmn1r230 T A 17: 21,067,355 (GRCm39) N181K probably benign Het
Vmn2r17 T A 5: 109,582,144 (GRCm39) M511K possibly damaging Het
Wdfy3 C T 5: 102,055,408 (GRCm39) R1554Q possibly damaging Het
Zfp112 A T 7: 23,824,863 (GRCm39) Q277L probably damaging Het
Zfp850 T C 7: 27,684,620 (GRCm39) E42G probably damaging Het
Zfp976 G A 7: 42,262,695 (GRCm39) P381S probably damaging Het
Zzef1 A T 11: 72,800,982 (GRCm39) 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
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
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
Predicted Primers PCR Primer
(F):5'- TAGCAGTAGGTTGGCGTCTAC -3'
(R):5'- GTTTAAATACTCAAGGGTGTGGAG -3'

Sequencing Primer
(F):5'- TTAGGCTTAAATCAAATCGTCTCC -3'
(R):5'- TACTCAAGGGTGTGGAGGTAGG -3'
Posted On 2014-10-02