Incidental Mutation 'R5823:Slc35d2'
ID 450047
Institutional Source Beutler Lab
Gene Symbol Slc35d2
Ensembl Gene ENSMUSG00000033114
Gene Name solute carrier family 35, member D2
Synonyms hfrc, 5730408I21Rik, SQV7L, UGTrel8
MMRRC Submission 043215-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R5823 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 64244122-64277182 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64268419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 78 (I78T)
Ref Sequence ENSEMBL: ENSMUSP00000152615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099441] [ENSMUST00000220792] [ENSMUST00000222168] [ENSMUST00000222794] [ENSMUST00000222866] [ENSMUST00000223461]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000099441
AA Change: I78T

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000097040
Gene: ENSMUSG00000033114
AA Change: I78T

DomainStartEndE-ValueType
Pfam:TPT 12 301 4e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220792
AA Change: I78T

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably damaging
Transcript: ENSMUST00000222168
AA Change: I78T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222692
Predicted Effect probably benign
Transcript: ENSMUST00000222794
Predicted Effect probably benign
Transcript: ENSMUST00000222866
Predicted Effect probably benign
Transcript: ENSMUST00000223461
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleotide sugars, which are synthesized in the cytosol or the nucleus, are high-energy donor substrates for glycosyltransferases located in the lumen of the endoplasmic reticulum and Golgi apparatus. Translocation of nucleotide sugars from the cytosol into the lumen compartment is mediated by specific nucleotide sugar transporters, such as SLC35D2 (Suda et al., 2004 [PubMed 15082721]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Acsl3 G T 1: 78,666,003 (GRCm39) R143L probably benign Het
Ankrd11 A T 8: 123,622,529 (GRCm39) I420K probably benign Het
Aoc1l2 T A 6: 48,907,486 (GRCm39) I162N probably damaging Het
Cwh43 A G 5: 73,569,213 (GRCm39) E85G probably benign Het
Dnah1 G T 14: 30,988,375 (GRCm39) F3442L possibly damaging Het
Dock6 T A 9: 21,716,124 (GRCm39) N1737I probably damaging Het
Fcf1 A G 12: 85,020,921 (GRCm39) Y55C possibly damaging Het
Fer1l6 T A 15: 58,462,352 (GRCm39) Y802* probably null Het
Fgf9 T G 14: 58,320,759 (GRCm39) S10A probably damaging Het
Fhad1 A G 4: 141,682,617 (GRCm39) I508T possibly damaging Het
Flnc T C 6: 29,461,201 (GRCm39) V2692A probably damaging Het
Gm38119 G T 3: 92,645,380 (GRCm39) H71Q unknown Het
Hcn1 A T 13: 117,739,388 (GRCm39) H50L unknown Het
Helz2 T C 2: 180,878,189 (GRCm39) T870A possibly damaging Het
Iqcf4 T C 9: 106,445,800 (GRCm39) I116V probably benign Het
Lama5 T A 2: 179,834,285 (GRCm39) I1383F probably benign Het
Lmo2 C T 2: 103,811,417 (GRCm39) T150I probably damaging Het
Mgat4f T A 1: 134,318,655 (GRCm39) W476R probably damaging Het
Myh13 A G 11: 67,251,294 (GRCm39) E1391G probably damaging Het
Mylk T A 16: 34,715,317 (GRCm39) probably null Het
Nat10 A T 2: 103,560,612 (GRCm39) V731D probably damaging Het
Ncapd2 A G 6: 125,145,663 (GRCm39) V1328A probably benign Het
Nfu1 C A 6: 87,002,541 (GRCm39) Q207K probably damaging Het
Nipsnap2 T A 5: 129,816,833 (GRCm39) probably null Het
Npc1 T C 18: 12,324,846 (GRCm39) K1216E possibly damaging Het
Or2r3 C A 6: 42,448,906 (GRCm39) V69L probably benign Het
Phf3 T C 1: 30,843,764 (GRCm39) I1732V probably damaging Het
Rasgrp4 G T 7: 28,837,142 (GRCm39) R67L probably benign Het
Rubcn T C 16: 32,670,091 (GRCm39) D88G probably damaging Het
Slc30a2 T C 4: 134,073,289 (GRCm39) I112T probably damaging Het
Slc9a4 T A 1: 40,658,277 (GRCm39) M600K probably damaging Het
Slfn8 A G 11: 82,907,562 (GRCm39) I327T probably benign Het
Tas2r118 A G 6: 23,969,470 (GRCm39) I197T probably benign Het
Tex15 A G 8: 34,060,962 (GRCm39) I405V possibly damaging Het
Thsd7b T C 1: 129,605,821 (GRCm39) S521P probably benign Het
Trim36 A G 18: 46,302,407 (GRCm39) L535P probably damaging Het
Trim63 A T 4: 134,043,842 (GRCm39) I102F probably damaging Het
Wdr47 G A 3: 108,550,401 (GRCm39) V809M probably damaging Het
Other mutations in Slc35d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02166:Slc35d2 APN 13 64,246,162 (GRCm39) missense probably damaging 1.00
IGL02315:Slc35d2 APN 13 64,254,849 (GRCm39) missense possibly damaging 0.87
R1612:Slc35d2 UTSW 13 64,259,324 (GRCm39) splice site probably benign
R2368:Slc35d2 UTSW 13 64,277,119 (GRCm39) start codon destroyed probably null 0.01
R4713:Slc35d2 UTSW 13 64,247,097 (GRCm39) missense possibly damaging 0.94
R5338:Slc35d2 UTSW 13 64,245,496 (GRCm39) missense possibly damaging 0.68
R5840:Slc35d2 UTSW 13 64,266,227 (GRCm39) splice site probably null
R8020:Slc35d2 UTSW 13 64,254,857 (GRCm39) missense probably benign 0.05
R9032:Slc35d2 UTSW 13 64,256,227 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTACTGAGTGTAAGCAGAGAG -3'
(R):5'- CTGTGTGAATTTTAGCTTCCACG -3'

Sequencing Primer
(F):5'- GTGTAACCCAAAGCGTACGG -3'
(R):5'- CACTGTCTTTCCAGATGATG -3'
Posted On 2016-12-20