Incidental Mutation 'IGL03250:Slc17a5'
ID 414528
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 # IGL03250
Quality Score
Status
Chromosome 9
Chromosomal Location 78443770-78495323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78485846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 80 (S80P)
Ref Sequence ENSEMBL: ENSMUSP00000113003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052441] [ENSMUST00000117645]
AlphaFold Q8BN82
Predicted Effect probably damaging
Transcript: ENSMUST00000052441
AA Change: S80P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000056182
Gene: ENSMUSG00000049624
AA Change: S80P

DomainStartEndE-ValueType
Pfam:MFS_1 46 441 1.8e-61 PFAM
transmembrane domain 456 478 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117645
AA Change: S80P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113003
Gene: ENSMUSG00000049624
AA Change: S80P

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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bnipl C T 3: 95,151,450 (GRCm39) probably benign Het
Calb2 G T 8: 110,869,739 (GRCm39) L265I probably benign Het
Cdhr4 C T 9: 107,873,858 (GRCm39) R442C probably damaging Het
Cep192 T C 18: 67,940,426 (GRCm39) V131A probably benign Het
Ctnnal1 G T 4: 56,812,356 (GRCm39) N723K probably benign Het
Dclre1b T C 3: 103,711,380 (GRCm39) probably null Het
Hdac4 A C 1: 91,862,322 (GRCm39) probably null Het
Mms19 A T 19: 41,942,903 (GRCm39) probably null Het
Myh7 A T 14: 55,229,704 (GRCm39) M113K probably damaging Het
Pkdrej T C 15: 85,705,556 (GRCm39) T127A possibly damaging Het
Plekhm3 A G 1: 64,977,206 (GRCm39) V88A possibly damaging Het
S100a7l2 T C 3: 90,997,715 (GRCm39) probably benign Het
Suclg1 A G 6: 73,247,975 (GRCm39) N232S probably benign Het
Upk1a A T 7: 30,306,403 (GRCm39) V121E possibly damaging Het
Vmn1r70 C T 7: 10,368,208 (GRCm39) T232I probably damaging Het
Vmn2r4 G A 3: 64,314,063 (GRCm39) T306I probably damaging Het
Wdfy4 A T 14: 32,699,124 (GRCm39) M2524K probably damaging Het
Wdr6 A G 9: 108,450,396 (GRCm39) V1044A possibly damaging Het
Zfp809 A G 9: 22,149,931 (GRCm39) T143A possibly 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
IGL01945:Slc17a5 APN 9 78,495,214 (GRCm39) missense probably benign 0.01
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 2016-08-02