Incidental Mutation 'IGL01945:Slc17a5'
ID 181233
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc17a5
Ensembl Gene ENSMUSG00000049624
Gene Name solute carrier family 17 (anion/sugar transporter), member 5
Synonyms 4631416G20Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.705) question?
Stock # IGL01945
Quality Score
Status
Chromosome 9
Chromosomal Location 78443770-78495323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 78495214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 12 (D12E)
Ref Sequence ENSEMBL: ENSMUSP00000113003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052441] [ENSMUST00000117645]
AlphaFold Q8BN82
Predicted Effect probably benign
Transcript: ENSMUST00000052441
AA Change: D12E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000056182
Gene: ENSMUSG00000049624
AA Change: D12E

DomainStartEndE-ValueType
Pfam:MFS_1 46 441 1.8e-61 PFAM
transmembrane domain 456 478 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117645
AA Change: D12E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000113003
Gene: ENSMUSG00000049624
AA Change: D12E

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
Pfam:MFS_1 97 415 2.5e-50 PFAM
transmembrane domain 430 452 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119213
SMART Domains Protein: ENSMUSP00000113340
Gene: ENSMUSG00000049624

DomainStartEndE-ValueType
Pfam:Sugar_tr 43 175 4.9e-8 PFAM
Pfam:MFS_1 45 189 5.5e-16 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 membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit numerous neurological abnormalities, including impaired exploratory and locomotor activity, hearing deficits, and an increased depressive-like response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A C 11: 109,974,130 (GRCm39) probably benign Het
Acta2 A G 19: 34,229,254 (GRCm39) V45A probably benign Het
Adam11 G A 11: 102,663,736 (GRCm39) V305M probably damaging Het
Adcy1 A G 11: 7,111,891 (GRCm39) K919E probably damaging Het
Afap1l1 T C 18: 61,889,934 (GRCm39) T101A probably benign Het
Apbb2 T A 5: 66,557,594 (GRCm39) D289V probably damaging Het
Appl1 A G 14: 26,650,612 (GRCm39) V520A possibly damaging Het
Atp5mc3 G A 2: 73,741,313 (GRCm39) R9C probably benign Het
Atp8a2 A G 14: 60,263,609 (GRCm39) L375P probably damaging Het
Cavin1 A T 11: 100,861,246 (GRCm39) F16Y probably benign Het
Ccdc185 C A 1: 182,576,441 (GRCm39) V83L probably benign Het
Ccdc80 T A 16: 44,938,608 (GRCm39) S772T probably damaging Het
Cntn4 T A 6: 106,414,865 (GRCm39) V132E probably damaging Het
Coa5 A T 1: 37,468,979 (GRCm39) C24S probably damaging Het
Col6a5 A T 9: 105,805,489 (GRCm39) V1139D unknown Het
Ddx46 C A 13: 55,802,885 (GRCm39) S469* probably null Het
Ep300 A G 15: 81,500,310 (GRCm39) probably benign Het
Fcna A T 2: 25,517,847 (GRCm39) M1K probably null Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gstm3 T C 3: 107,874,973 (GRCm39) E93G probably damaging Het
Gtse1 A G 15: 85,755,748 (GRCm39) T471A probably benign Het
Hepacam2 T A 6: 3,487,117 (GRCm39) Y4F probably benign Het
Hipk1 T C 3: 103,651,320 (GRCm39) I1148V possibly damaging Het
Il1r2 A G 1: 40,141,613 (GRCm39) T9A possibly damaging Het
Kl A T 5: 150,912,402 (GRCm39) D717V probably damaging Het
Krt75 G A 15: 101,478,599 (GRCm39) T345M possibly damaging Het
Myo5a T A 9: 75,047,953 (GRCm39) H260Q probably damaging Het
Nckap1l G A 15: 103,370,069 (GRCm39) G156D probably damaging Het
Nlrp1b T G 11: 71,072,233 (GRCm39) T537P probably damaging Het
Nudt17 A G 3: 96,614,355 (GRCm39) I201T probably damaging Het
Or5k3 T C 16: 58,969,827 (GRCm39) S205P probably benign Het
Or6c8 A T 10: 128,915,172 (GRCm39) I220N probably damaging Het
Or7g27 A T 9: 19,250,628 (GRCm39) S291C probably damaging Het
Padi6 T C 4: 140,469,235 (GRCm39) D35G probably benign Het
Plcb1 A T 2: 135,062,711 (GRCm39) Y107F probably benign Het
Plek2 T A 12: 78,938,922 (GRCm39) H279L probably damaging Het
Plk2 A G 13: 110,535,588 (GRCm39) D470G possibly damaging Het
Ranbp17 T C 11: 33,278,520 (GRCm39) T116A possibly damaging Het
Rbck1 G A 2: 152,160,236 (GRCm39) P481L probably damaging Het
Reps1 A G 10: 17,969,584 (GRCm39) N229S probably benign Het
Rngtt T C 4: 33,339,073 (GRCm39) W293R probably damaging Het
Robo1 A T 16: 72,759,114 (GRCm39) I376F probably damaging Het
Ryr2 T A 13: 11,805,249 (GRCm39) I872F probably damaging Het
Sgip1 T C 4: 102,823,439 (GRCm39) Y707H probably damaging Het
Slco1a5 T A 6: 142,189,715 (GRCm39) probably null Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Strap A G 6: 137,718,333 (GRCm39) I146V probably benign Het
Tcim A T 8: 24,928,892 (GRCm39) H7Q probably benign Het
Tgfbr3 A G 5: 107,269,224 (GRCm39) probably null Het
Thada G T 17: 84,530,194 (GRCm39) T1725N probably benign Het
Trhr T C 15: 44,060,540 (GRCm39) V20A probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Wnt5a A G 14: 28,240,519 (GRCm39) N223S probably damaging Het
Other mutations in Slc17a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Slc17a5 APN 9 78,485,816 (GRCm39) missense probably benign
IGL00828:Slc17a5 APN 9 78,485,833 (GRCm39) missense probably benign 0.37
IGL01603:Slc17a5 APN 9 78,481,989 (GRCm39) missense probably damaging 1.00
IGL03250:Slc17a5 APN 9 78,485,846 (GRCm39) missense probably damaging 0.99
PIT4618001:Slc17a5 UTSW 9 78,445,530 (GRCm39) missense possibly damaging 0.52
R0136:Slc17a5 UTSW 9 78,485,956 (GRCm39) missense probably damaging 1.00
R0245:Slc17a5 UTSW 9 78,448,206 (GRCm39) missense probably benign 0.00
R0305:Slc17a5 UTSW 9 78,464,819 (GRCm39) missense probably benign 0.25
R0481:Slc17a5 UTSW 9 78,445,584 (GRCm39) splice site probably null
R0657:Slc17a5 UTSW 9 78,485,956 (GRCm39) missense probably damaging 1.00
R0763:Slc17a5 UTSW 9 78,460,372 (GRCm39) splice site probably benign
R1543:Slc17a5 UTSW 9 78,468,082 (GRCm39) missense probably benign 0.01
R1564:Slc17a5 UTSW 9 78,485,981 (GRCm39) missense probably damaging 0.98
R2155:Slc17a5 UTSW 9 78,484,455 (GRCm39) missense probably damaging 1.00
R2483:Slc17a5 UTSW 9 78,445,556 (GRCm39) missense probably damaging 1.00
R3623:Slc17a5 UTSW 9 78,445,556 (GRCm39) missense probably damaging 1.00
R4193:Slc17a5 UTSW 9 78,466,388 (GRCm39) missense possibly damaging 0.58
R4794:Slc17a5 UTSW 9 78,481,997 (GRCm39) missense probably damaging 0.96
R5115:Slc17a5 UTSW 9 78,484,394 (GRCm39) missense probably benign 0.12
R5141:Slc17a5 UTSW 9 78,448,270 (GRCm39) missense probably damaging 1.00
R5205:Slc17a5 UTSW 9 78,485,899 (GRCm39) missense probably damaging 1.00
R5953:Slc17a5 UTSW 9 78,464,780 (GRCm39) missense probably damaging 1.00
R6481:Slc17a5 UTSW 9 78,445,553 (GRCm39) missense possibly damaging 0.87
R7375:Slc17a5 UTSW 9 78,495,174 (GRCm39) missense probably benign 0.00
R8309:Slc17a5 UTSW 9 78,478,311 (GRCm39) nonsense probably null
R8720:Slc17a5 UTSW 9 78,485,945 (GRCm39) missense probably damaging 0.98
R9286:Slc17a5 UTSW 9 78,445,566 (GRCm39) missense probably damaging 1.00
R9425:Slc17a5 UTSW 9 78,484,457 (GRCm39) missense probably damaging 1.00
R9567:Slc17a5 UTSW 9 78,445,562 (GRCm39) missense possibly damaging 0.94
Posted On 2014-05-07