Incidental Mutation 'R5490:Slc35a3'
ID 432032
Institutional Source Beutler Lab
Gene Symbol Slc35a3
Ensembl Gene ENSMUSG00000027957
Gene Name solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3
Synonyms 2310050P13Rik
MMRRC Submission 043051-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R5490 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 116463118-116506366 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 116474839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 184 (C184*)
Ref Sequence ENSEMBL: ENSMUSP00000123641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029569] [ENSMUST00000120120] [ENSMUST00000153108] [ENSMUST00000196335]
AlphaFold Q8R1T4
Predicted Effect probably null
Transcript: ENSMUST00000029569
AA Change: C184*
SMART Domains Protein: ENSMUSP00000029569
Gene: ENSMUSG00000027957
AA Change: C184*

DomainStartEndE-ValueType
Pfam:Nuc_sug_transp 1 314 2.3e-141 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000120120
AA Change: C184*
SMART Domains Protein: ENSMUSP00000112674
Gene: ENSMUSG00000027957
AA Change: C184*

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 probably null
Transcript: ENSMUST00000140672
AA Change: C23*
SMART Domains Protein: ENSMUSP00000114952
Gene: ENSMUSG00000105103
AA Change: C23*

DomainStartEndE-ValueType
Pfam:Nuc_sug_transp 2 129 2.4e-39 PFAM
Pfam:MFS_1 104 235 1e-13 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000153108
AA Change: C184*
SMART Domains Protein: ENSMUSP00000123641
Gene: ENSMUSG00000027957
AA Change: C184*

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 noncoding transcript
Transcript: ENSMUST00000196331
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
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf C T 11: 84,401,099 (GRCm39) G174D probably damaging Het
Abcc1 G T 16: 14,228,781 (GRCm39) G343C probably damaging Het
Asic2 T C 11: 80,780,646 (GRCm39) N370S probably benign Het
Btnl9 T C 11: 49,060,395 (GRCm39) E451G probably damaging Het
Cblb A G 16: 51,994,733 (GRCm39) H658R possibly damaging Het
Cdca2 T C 14: 67,917,733 (GRCm39) E555G possibly damaging Het
Chfr A G 5: 110,300,995 (GRCm39) S299G possibly damaging Het
Eea1 A G 10: 95,861,916 (GRCm39) E741G probably benign Het
Gapvd1 T C 2: 34,583,445 (GRCm39) D1057G probably benign Het
Glyat C T 19: 12,627,645 (GRCm39) T80M probably benign Het
Gpr87 T C 3: 59,086,747 (GRCm39) S253G probably damaging Het
Hapstr1 T A 16: 8,673,721 (GRCm39) V216E probably damaging Het
Hmgxb3 A G 18: 61,296,049 (GRCm39) S320P probably damaging Het
Kcnq5 C T 1: 21,549,692 (GRCm39) G345D probably damaging Het
Kif5c T C 2: 49,648,870 (GRCm39) V938A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Madd G T 2: 91,000,980 (GRCm39) T467K possibly damaging Het
Mamdc4 T C 2: 25,455,890 (GRCm39) D706G probably damaging Het
Map2 A G 1: 66,452,292 (GRCm39) H476R probably damaging Het
Mgat4f A G 1: 134,317,666 (GRCm39) D146G probably damaging Het
Mpeg1 T C 19: 12,439,057 (GRCm39) S172P probably damaging Het
Nkx2-3 A T 19: 43,601,093 (GRCm39) T52S probably benign Het
Nup210 C T 6: 91,062,970 (GRCm39) V230I probably damaging Het
Or1j19 T A 2: 36,677,193 (GRCm39) Y219N probably damaging Het
Or51f2 T C 7: 102,527,100 (GRCm39) S258P probably damaging Het
Or5g9 G T 2: 85,552,666 (GRCm39) A306S probably benign Het
Pepd A G 7: 34,642,115 (GRCm39) probably null Het
Ppp1r36 T A 12: 76,484,760 (GRCm39) W238R probably damaging Het
Ppp1r36 G T 12: 76,484,761 (GRCm39) W238L possibly damaging Het
Prpf6 T G 2: 181,249,958 (GRCm39) D39E probably benign Het
Rassf5 T A 1: 131,108,932 (GRCm39) Q163L possibly damaging Het
Rbm43 T A 2: 51,815,607 (GRCm39) T205S probably benign Het
Relch T A 1: 105,647,226 (GRCm39) V672D probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sds C A 5: 120,621,715 (GRCm39) Q286K possibly damaging Het
Smg1 G A 7: 117,738,659 (GRCm39) T3530I possibly damaging Het
Sspo T C 6: 48,470,214 (GRCm39) V591A probably benign Het
Stam2 T C 2: 52,610,929 (GRCm39) D31G probably damaging Het
Star A G 8: 26,299,945 (GRCm39) K96E probably damaging Het
Syne3 A G 12: 104,921,931 (GRCm39) L495P probably damaging Het
Tceanc2 A T 4: 107,022,846 (GRCm39) M47K probably benign Het
Tecpr2 T C 12: 110,881,118 (GRCm39) L85P probably damaging Het
Tmem241 C T 18: 12,176,320 (GRCm39) R116K probably benign Het
Yipf2 G A 9: 21,503,487 (GRCm39) A20V probably benign Het
Zc3h4 T A 7: 16,162,930 (GRCm39) D443E unknown Het
Zfp184 T A 13: 22,142,747 (GRCm39) V151D probably benign Het
Zhx1 T C 15: 57,916,695 (GRCm39) Y517C probably damaging 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
IGL02424:Slc35a3 APN 3 116,488,267 (GRCm39) missense possibly damaging 0.92
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
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
Predicted Primers PCR Primer
(F):5'- ACTGAAAGACTTAGGGAGATCCAC -3'
(R):5'- AGCTTACCTTCTGCTCAGGC -3'

Sequencing Primer
(F):5'- AAGATGCGGTCTCCCTATGTG -3'
(R):5'- AGGGCACAGACTCAGGTTGTC -3'
Posted On 2016-10-05