Incidental Mutation 'IGL02424:Slc35a3'
ID292849
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc35a3
Ensembl Gene ENSMUSG00000027957
Gene Namesolute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3
Synonyms2310050P13Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL02424
Quality Score
Status
Chromosome3
Chromosomal Location116669470-116712831 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 116694618 bp
ZygosityHeterozygous
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]
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: 138,174,705 probably benign Het
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Abl1 G A 2: 31,801,132 V888I probably benign Het
Adcy9 G T 16: 4,288,597 N884K probably damaging Het
Alyref T C 11: 120,595,307 N176D probably benign Het
Amtn T C 5: 88,381,597 probably benign Het
Baz1b T C 5: 135,217,979 Y761H probably damaging Het
Cckar T A 5: 53,706,428 T64S possibly damaging Het
Csmd1 A G 8: 16,092,326 F1521S probably benign Het
Cyp11b1 T C 15: 74,839,236 T198A probably benign Het
Def8 G T 8: 123,459,648 L399F possibly damaging Het
Epha7 A T 4: 28,948,790 probably benign Het
Ets1 T A 9: 32,754,293 Y181* probably null Het
Fas A T 19: 34,327,034 M232L probably damaging Het
Fkbp10 T A 11: 100,415,956 V37E probably damaging Het
Galnt3 A G 2: 66,095,788 probably null Het
Gdap1 T C 1: 17,161,178 V249A probably damaging Het
Gm5356 T A 8: 89,186,966 noncoding transcript Het
Gm7732 A G 17: 21,129,447 noncoding transcript Het
Gpr3 G T 4: 133,211,094 A89E probably damaging Het
Kat2a A G 11: 100,711,147 probably null Het
Kit T G 5: 75,639,106 D499E probably benign Het
Kmt2a C T 9: 44,824,635 probably benign Het
Med12l T C 3: 59,092,722 L666P probably benign Het
Mmp2 T G 8: 92,836,007 C291G probably damaging Het
Neb A G 2: 52,264,191 Y2303H probably damaging Het
Olfr305 C A 7: 86,363,480 V286L probably benign Het
Olfr412 T A 11: 74,365,473 M268K probably benign Het
Olfr97 T C 17: 37,232,372 probably benign Het
Pde1b T A 15: 103,528,219 probably benign Het
Prl7a2 A C 13: 27,667,970 C9G probably null Het
Rabl6 A G 2: 25,587,457 V327A probably benign Het
Robo2 T A 16: 73,973,301 I516F possibly damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Slc38a7 A G 8: 95,841,572 V395A probably damaging Het
Stag3 T A 5: 138,281,985 C37* probably null Het
Stag3 T C 5: 138,291,366 L266P probably damaging Het
Strn A G 17: 78,684,351 S180P probably damaging Het
Sulf1 A G 1: 12,796,840 T83A probably benign Het
Vmn1r69 T C 7: 10,580,658 I49V probably benign Het
Vrk2 G A 11: 26,476,564 P387L probably benign Het
Xdh A T 17: 73,926,570 M183K probably benign Het
Other mutations in Slc35a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01285:Slc35a3 APN 3 116694613 missense probably damaging 1.00
IGL02092:Slc35a3 APN 3 116681132 missense probably damaging 1.00
IGL03304:Slc35a3 APN 3 116687311 missense probably damaging 1.00
R1465:Slc35a3 UTSW 3 116687334 missense probably benign 0.44
R1465:Slc35a3 UTSW 3 116687334 missense probably benign 0.44
R1753:Slc35a3 UTSW 3 116677948 missense possibly damaging 0.79
R2035:Slc35a3 UTSW 3 116687323 missense probably damaging 1.00
R2265:Slc35a3 UTSW 3 116673636 missense possibly damaging 0.87
R2266:Slc35a3 UTSW 3 116673636 missense possibly damaging 0.87
R2267:Slc35a3 UTSW 3 116673636 missense possibly damaging 0.87
R2268:Slc35a3 UTSW 3 116673636 missense possibly damaging 0.87
R4073:Slc35a3 UTSW 3 116675238 missense probably benign 0.05
R5187:Slc35a3 UTSW 3 116681145 missense probably damaging 1.00
R5490:Slc35a3 UTSW 3 116681190 nonsense probably null
R6841:Slc35a3 UTSW 3 116712768 missense probably null
R7270:Slc35a3 UTSW 3 116711806 intron probably benign
Posted On2015-04-16