Incidental Mutation 'R7964:Slc35a3'
ID 650250
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 046007-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R7964 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 116463118-116506366 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116480984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 93 (I93T)
Ref Sequence ENSEMBL: ENSMUSP00000029569 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029569] [ENSMUST00000120120] [ENSMUST00000153108] [ENSMUST00000196335]
AlphaFold Q8R1T4
Predicted Effect possibly damaging
Transcript: ENSMUST00000029569
AA Change: I93T

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029569
Gene: ENSMUSG00000027957
AA Change: I93T

DomainStartEndE-ValueType
Pfam:Nuc_sug_transp 1 314 2.3e-141 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000120120
AA Change: I93T

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112674
Gene: ENSMUSG00000027957
AA Change: I93T

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 possibly damaging
Transcript: ENSMUST00000153108
AA Change: I93T

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123641
Gene: ENSMUSG00000027957
AA Change: I93T

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: ENSMUST00000196335
AA Change: I93T

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142374
Gene: ENSMUSG00000027957
AA Change: I93T

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,266,146 (GRCm39) M3042L probably benign Het
Abca3 T A 17: 24,621,410 (GRCm39) L1345Q probably benign Het
Adam20 G T 8: 41,249,944 (GRCm39) V685F probably damaging Het
Adam25 T A 8: 41,208,576 (GRCm39) I614N probably damaging Het
Aldh1a7 C T 19: 20,677,371 (GRCm39) V417M probably damaging Het
Aldh1a7 C T 19: 20,693,406 (GRCm39) G171D probably benign Het
Aloxe3 T C 11: 69,017,362 (GRCm39) F45S probably damaging Het
Ankrd26 T C 6: 118,500,160 (GRCm39) I1104V probably benign Het
Ap3d1 C A 10: 80,565,891 (GRCm39) R92L probably damaging Het
Aspm A G 1: 139,408,424 (GRCm39) Q2437R probably damaging Het
Bcl11a T C 11: 24,113,353 (GRCm39) I232T probably benign Het
Cdcp3 G T 7: 130,899,963 (GRCm39) R2102L unknown Het
Cemip2 T C 19: 21,775,794 (GRCm39) probably null Het
Cfap97 A G 8: 46,623,237 (GRCm39) D209G possibly damaging Het
Csmd2 A G 4: 128,417,303 (GRCm39) M2754V Het
Dcdc2c A G 12: 28,520,318 (GRCm39) I586T Het
Dkk4 T C 8: 23,115,368 (GRCm39) C73R probably damaging Het
Dnai3 T C 3: 145,774,531 (GRCm39) N439D probably benign Het
Dzip3 T C 16: 48,772,268 (GRCm39) D467G probably damaging Het
Eif5 T C 12: 111,506,608 (GRCm39) F67L probably benign Het
Elmod1 A G 9: 53,838,860 (GRCm39) I100T probably benign Het
Gm9837 A G 11: 53,361,001 (GRCm39) L71P unknown Het
Hpse A G 5: 100,846,777 (GRCm39) probably null Het
Insc T C 7: 114,445,708 (GRCm39) L472P probably damaging Het
Itgax A C 7: 127,739,590 (GRCm39) probably null Het
Lair1 A G 7: 4,013,803 (GRCm39) V148A probably benign Het
Lama2 A G 10: 27,099,977 (GRCm39) probably null Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Lgr5 T C 10: 115,288,079 (GRCm39) D855G probably benign Het
Lrp1 C A 10: 127,410,913 (GRCm39) R1425L possibly damaging Het
Lrp1b A G 2: 40,488,523 (GRCm39) S4521P Het
Nbas A G 12: 13,406,896 (GRCm39) Y831C probably damaging Het
Nek9 C A 12: 85,385,787 (GRCm39) R70L probably benign Het
Nlrp2 A C 7: 5,331,527 (GRCm39) L290V probably damaging Het
Nos1 T A 5: 118,038,607 (GRCm39) I480N probably damaging Het
Or4a80 T C 2: 89,583,158 (GRCm39) N5D possibly damaging Het
Pcdhb13 C A 18: 37,577,871 (GRCm39) Q750K possibly damaging Het
Pik3c2g C T 6: 139,827,786 (GRCm39) T727I Het
Pik3r6 C A 11: 68,424,565 (GRCm39) P390Q probably benign Het
Pramel1 T C 4: 143,123,810 (GRCm39) S162P probably benign Het
Psg21 A G 7: 18,381,136 (GRCm39) M469T probably benign Het
Psg27 A T 7: 18,299,124 (GRCm39) W66R probably damaging Het
Sbno2 A G 10: 79,904,185 (GRCm39) C371R probably damaging Het
Shroom1 G T 11: 53,355,149 (GRCm39) K329N possibly damaging Het
Slc38a2 G A 15: 96,590,453 (GRCm39) T297M probably benign Het
Sorl1 T A 9: 41,902,697 (GRCm39) D1620V probably damaging Het
Srsf4 T A 4: 131,618,544 (GRCm39) L45Q probably benign Het
Tcaf2 G A 6: 42,606,640 (GRCm39) S438L probably benign Het
Trappc11 T A 8: 47,979,979 (GRCm39) I186L possibly damaging Het
Usp9y A T Y: 1,316,914 (GRCm39) N1878K probably benign Het
Zfp280d T A 9: 72,229,740 (GRCm39) M349K probably damaging Het
Zgpat A G 2: 181,020,274 (GRCm39) H227R 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
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
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
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'- ATTACTAGGGAGAGCCACTGGTAC -3'
(R):5'- CTGAGGCCTATGAAGACAGAGC -3'

Sequencing Primer
(F):5'- GGAGAGCCACTGGTACACACC -3'
(R):5'- GACAGAGCTTATGATTTCTGCAGC -3'
Posted On 2020-09-15