Incidental Mutation 'IGL02166:Slc35d2'
ID 282702
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc35d2
Ensembl Gene ENSMUSG00000033114
Gene Name solute carrier family 35, member D2
Synonyms hfrc, 5730408I21Rik, SQV7L, UGTrel8
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # IGL02166
Quality Score
Status
Chromosome 13
Chromosomal Location 64244122-64277182 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64246162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 282 (F282S)
Ref Sequence ENSEMBL: ENSMUSP00000097040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099441] [ENSMUST00000220792] [ENSMUST00000222794] [ENSMUST00000223461]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000099441
AA Change: F282S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097040
Gene: ENSMUSG00000033114
AA Change: F282S

DomainStartEndE-ValueType
Pfam:TPT 12 301 4e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220792
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222692
Predicted Effect probably benign
Transcript: ENSMUST00000222794
Predicted Effect probably benign
Transcript: ENSMUST00000223461
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aopep A G 13: 63,163,267 (GRCm39) H96R probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cdh8 T C 8: 99,917,083 (GRCm39) D344G probably damaging Het
Ciao3 A G 17: 25,999,294 (GRCm39) D236G possibly damaging Het
Cltc T C 11: 86,594,914 (GRCm39) I1399V probably benign Het
Col4a1 A T 8: 11,294,509 (GRCm39) probably benign Het
Crtc3 C T 7: 80,327,147 (GRCm39) G60R probably damaging Het
Dscaml1 G A 9: 45,594,999 (GRCm39) V701M probably damaging Het
Eif3b T A 5: 140,425,705 (GRCm39) C632S possibly damaging Het
Ephb3 G A 16: 21,039,499 (GRCm39) R417Q probably damaging Het
Fpr3 T C 17: 18,190,726 (GRCm39) probably benign Het
Hpdl A G 4: 116,678,149 (GRCm39) V104A probably damaging Het
Ighv1-55 T C 12: 115,171,840 (GRCm39) S76G probably benign Het
Ikbip T C 10: 90,931,652 (GRCm39) S99P probably damaging Het
Lnpk T C 2: 74,360,061 (GRCm39) E318G probably damaging Het
Lrrc66 G A 5: 73,764,634 (GRCm39) T803M probably damaging Het
Nxf2 C A X: 133,857,878 (GRCm39) W89L possibly damaging Het
Or2y11 A G 11: 49,442,757 (GRCm39) Y61C probably damaging Het
Or5d46 A T 2: 88,170,022 (GRCm39) I38F probably damaging Het
Or6c3b T A 10: 129,527,782 (GRCm39) I43F probably benign Het
Osbp2 A T 11: 3,667,983 (GRCm39) C5S probably damaging Het
Ovol2 T C 2: 144,147,650 (GRCm39) N200S possibly damaging Het
Ppp4r1 A G 17: 66,120,487 (GRCm39) D207G probably benign Het
Prdm11 C T 2: 92,843,208 (GRCm39) V84M probably damaging Het
Rspo3 T A 10: 29,411,275 (GRCm39) E17V possibly damaging Het
Scarf2 A G 16: 17,621,620 (GRCm39) N357D probably damaging Het
Scn9a A T 2: 66,323,447 (GRCm39) D1447E possibly damaging Het
Sdad1 G A 5: 92,439,621 (GRCm39) T433I probably benign Het
Seh1l A G 18: 67,918,093 (GRCm39) N149S probably damaging Het
Sigirr T C 7: 140,672,140 (GRCm39) I268M probably benign Het
Slc4a1 A T 11: 102,245,159 (GRCm39) M596K probably damaging Het
Spta1 G A 1: 174,017,797 (GRCm39) E494K probably damaging Het
Stk32b C A 5: 37,656,374 (GRCm39) probably benign Het
Tex13b T C X: 139,713,475 (GRCm39) E122G probably damaging Het
Tmem35a A G X: 133,205,357 (GRCm39) N91S probably damaging Het
Tmem67 A G 4: 12,047,313 (GRCm39) V841A possibly damaging Het
Trdv2-1 A G 14: 54,184,068 (GRCm39) D100G probably benign Het
Tshz3 T C 7: 36,468,346 (GRCm39) S112P probably benign Het
Tssc4 T C 7: 142,623,938 (GRCm39) M82T probably benign Het
Ttn A G 2: 76,562,723 (GRCm39) S28744P probably damaging Het
Unc45b C T 11: 82,831,007 (GRCm39) probably benign Het
Vim T C 2: 13,579,405 (GRCm39) S55P probably damaging Het
Zmat5 T A 11: 4,687,363 (GRCm39) Y139N possibly damaging Het
Zswim2 G A 2: 83,745,750 (GRCm39) Q563* probably null Het
Other mutations in Slc35d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5823:Slc35d2 UTSW 13 64,268,419 (GRCm39) missense probably damaging 0.98
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
Posted On 2015-04-16