Incidental Mutation 'IGL02424:Slc35a3'
ID 292849
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc35a3
Ensembl Gene ENSMUSG00000027957
Gene Name solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3
Synonyms 2310050P13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # IGL02424
Quality Score
Status
Chromosome 3
Chromosomal Location 116463118-116506366 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 116488267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 140 (T140I)
Ref Sequence ENSEMBL: ENSMUSP00000127284 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029569] [ENSMUST00000120120] [ENSMUST00000153108] [ENSMUST00000169530] [ENSMUST00000196335]
AlphaFold Q8R1T4
Predicted Effect probably benign
Transcript: ENSMUST00000029569
SMART Domains Protein: ENSMUSP00000029569
Gene: ENSMUSG00000027957

DomainStartEndE-ValueType
Pfam:Nuc_sug_transp 1 314 2.3e-141 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120120
SMART Domains Protein: ENSMUSP00000112674
Gene: ENSMUSG00000027957

DomainStartEndE-ValueType
Pfam:UAA 13 320 1.4e-11 PFAM
Pfam:EamA 29 156 2.1e-8 PFAM
Pfam:TPT 38 154 1.2e-7 PFAM
Pfam:Nuc_sug_transp 68 306 6.3e-105 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131082
Predicted Effect probably benign
Transcript: ENSMUST00000153108
SMART Domains Protein: ENSMUSP00000123641
Gene: ENSMUSG00000027957

DomainStartEndE-ValueType
Pfam:UAA 10 209 1.6e-10 PFAM
Pfam:EamA 27 156 6.2e-9 PFAM
Pfam:TPT 37 154 3.2e-8 PFAM
Pfam:Nuc_sug_transp 68 212 1.6e-65 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000169530
AA Change: T140I

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127284
Gene: ENSMUSG00000027957
AA Change: T140I

DomainStartEndE-ValueType
low complexity region 24 44 N/A INTRINSIC
low complexity region 89 134 N/A INTRINSIC
transmembrane domain 143 162 N/A INTRINSIC
transmembrane domain 177 199 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000196335
SMART Domains Protein: ENSMUSP00000142374
Gene: ENSMUSG00000027957

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:EamA 29 156 6.8e-7 PFAM
Pfam:TPT 34 154 1.6e-6 PFAM
Pfam:Nuc_sug_transp 68 167 5.9e-40 PFAM
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 UDP-N-acetylglucosamine transporter found in the golgi apparatus membrane. In cattle, a missense mutation in this gene causes complex vertebral malformation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik A G 3: 137,880,466 (GRCm39) probably benign Het
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Abl1 G A 2: 31,691,144 (GRCm39) V888I probably benign Het
Adcy9 G T 16: 4,106,461 (GRCm39) N884K probably damaging Het
Alyref T C 11: 120,486,133 (GRCm39) N176D probably benign Het
Amtn T C 5: 88,529,456 (GRCm39) probably benign Het
Baz1b T C 5: 135,246,833 (GRCm39) Y761H probably damaging Het
Cckar T A 5: 53,863,770 (GRCm39) T64S possibly damaging Het
Csmd1 A G 8: 16,142,340 (GRCm39) F1521S probably benign Het
Cyp11b1 T C 15: 74,711,085 (GRCm39) T198A probably benign Het
Def8 G T 8: 124,186,387 (GRCm39) L399F possibly damaging Het
Epha7 A T 4: 28,948,790 (GRCm39) probably benign Het
Ets1 T A 9: 32,665,589 (GRCm39) Y181* probably null Het
Fas A T 19: 34,304,434 (GRCm39) M232L probably damaging Het
Fkbp10 T A 11: 100,306,782 (GRCm39) V37E probably damaging Het
Galnt3 A G 2: 65,926,132 (GRCm39) probably null Het
Gdap1 T C 1: 17,231,402 (GRCm39) V249A probably damaging Het
Gm5356 T A 8: 89,913,594 (GRCm39) noncoding transcript Het
Gm7732 A G 17: 21,349,709 (GRCm39) noncoding transcript Het
Gpr3 G T 4: 132,938,405 (GRCm39) A89E probably damaging Het
Kat2a A G 11: 100,601,973 (GRCm39) probably null Het
Kit T G 5: 75,799,766 (GRCm39) D499E probably benign Het
Kmt2a C T 9: 44,735,932 (GRCm39) probably benign Het
Med12l T C 3: 59,000,143 (GRCm39) L666P probably benign Het
Mmp2 T G 8: 93,562,635 (GRCm39) C291G probably damaging Het
Neb A G 2: 52,154,203 (GRCm39) Y2303H probably damaging Het
Or14a259 C A 7: 86,012,688 (GRCm39) V286L probably benign Het
Or1d2 T A 11: 74,256,299 (GRCm39) M268K probably benign Het
Or1o2 T C 17: 37,543,263 (GRCm39) probably benign Het
Pde1b T A 15: 103,436,646 (GRCm39) probably benign Het
Prl7a2 A C 13: 27,851,953 (GRCm39) C9G probably null Het
Rabl6 A G 2: 25,477,469 (GRCm39) V327A probably benign Het
Robo2 T A 16: 73,770,189 (GRCm39) I516F possibly damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Slc38a7 A G 8: 96,568,200 (GRCm39) V395A probably damaging Het
Stag3 T A 5: 138,280,247 (GRCm39) C37* probably null Het
Stag3 T C 5: 138,289,628 (GRCm39) L266P probably damaging Het
Strn A G 17: 78,991,780 (GRCm39) S180P probably damaging Het
Sulf1 A G 1: 12,867,064 (GRCm39) T83A probably benign Het
Vmn1r69 T C 7: 10,314,585 (GRCm39) I49V probably benign Het
Vrk2 G A 11: 26,426,564 (GRCm39) P387L probably benign Het
Xdh A T 17: 74,233,565 (GRCm39) M183K probably benign Het
Other mutations in Slc35a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01285:Slc35a3 APN 3 116,488,262 (GRCm39) missense probably damaging 1.00
IGL02092:Slc35a3 APN 3 116,474,781 (GRCm39) missense probably damaging 1.00
IGL03304:Slc35a3 APN 3 116,480,960 (GRCm39) missense probably damaging 1.00
R1465:Slc35a3 UTSW 3 116,480,983 (GRCm39) missense probably benign 0.44
R1465:Slc35a3 UTSW 3 116,480,983 (GRCm39) missense probably benign 0.44
R1753:Slc35a3 UTSW 3 116,471,597 (GRCm39) missense possibly damaging 0.79
R2035:Slc35a3 UTSW 3 116,480,972 (GRCm39) missense probably damaging 1.00
R2265:Slc35a3 UTSW 3 116,467,285 (GRCm39) missense possibly damaging 0.87
R2266:Slc35a3 UTSW 3 116,467,285 (GRCm39) missense possibly damaging 0.87
R2267:Slc35a3 UTSW 3 116,467,285 (GRCm39) missense possibly damaging 0.87
R2268:Slc35a3 UTSW 3 116,467,285 (GRCm39) missense possibly damaging 0.87
R4073:Slc35a3 UTSW 3 116,468,887 (GRCm39) missense probably benign 0.05
R5187:Slc35a3 UTSW 3 116,474,794 (GRCm39) missense probably damaging 1.00
R5490:Slc35a3 UTSW 3 116,474,839 (GRCm39) nonsense probably null
R6841:Slc35a3 UTSW 3 116,506,417 (GRCm39) missense probably null
R7270:Slc35a3 UTSW 3 116,505,455 (GRCm39) intron probably benign
R7964:Slc35a3 UTSW 3 116,480,984 (GRCm39) missense possibly damaging 0.56
R8747:Slc35a3 UTSW 3 116,488,219 (GRCm39) missense probably damaging 1.00
R9556:Slc35a3 UTSW 3 116,474,763 (GRCm39) missense possibly damaging 0.63
Posted On 2015-04-16