Incidental Mutation 'R0763:Slc17a5'
ID 72519
Institutional Source Beutler Lab
Gene Symbol Slc17a5
Ensembl Gene ENSMUSG00000049624
Gene Name solute carrier family 17 (anion/sugar transporter), member 5
Synonyms 4631416G20Rik
MMRRC Submission 038943-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.705) question?
Stock # R0763 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 78443770-78495323 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 78460372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052441] [ENSMUST00000117645]
AlphaFold Q8BN82
Predicted Effect probably benign
Transcript: ENSMUST00000052441
SMART Domains Protein: ENSMUSP00000056182
Gene: ENSMUSG00000049624

DomainStartEndE-ValueType
Pfam:MFS_1 46 441 1.8e-61 PFAM
transmembrane domain 456 478 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117645
SMART Domains Protein: ENSMUSP00000113003
Gene: ENSMUSG00000049624

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 93.8%
Validation Efficiency 96% (52/54)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A C 6: 88,815,261 (GRCm39) F290V probably damaging Het
Adam26b G A 8: 43,973,601 (GRCm39) S467L probably damaging Het
Adgrv1 T A 13: 81,647,244 (GRCm39) I3099F probably damaging Het
Akap6 A G 12: 53,188,997 (GRCm39) D2137G possibly damaging Het
Arhgdig T C 17: 26,419,275 (GRCm39) Y48C probably damaging Het
Astn1 A G 1: 158,337,460 (GRCm39) I389V possibly damaging Het
Atp8a1 T C 5: 67,817,226 (GRCm39) D920G probably benign Het
BC016579 T A 16: 45,449,818 (GRCm39) N200I probably damaging Het
Casc3 T C 11: 98,722,144 (GRCm39) Y661H probably damaging Het
Cep120 A C 18: 53,854,809 (GRCm39) V442G probably benign Het
Cfap65 A G 1: 74,943,841 (GRCm39) Y1557H probably damaging Het
Chd2 G T 7: 73,097,022 (GRCm39) Q1485K possibly damaging Het
Cntrl T C 2: 35,061,078 (GRCm39) F1967L probably benign Het
Csmd1 G A 8: 17,077,300 (GRCm39) T119M possibly damaging Het
Dnah9 T C 11: 66,046,356 (GRCm39) H64R probably benign Het
Ep400 T C 5: 110,813,703 (GRCm39) R2899G probably damaging Het
Foxl2 A C 9: 98,838,086 (GRCm39) T125P probably damaging Het
Foxred1 A T 9: 35,118,769 (GRCm39) probably null Het
H2-Eb1 T A 17: 34,533,133 (GRCm39) probably benign Het
Heatr3 T C 8: 88,884,869 (GRCm39) S378P probably damaging Het
Hectd4 T C 5: 121,445,096 (GRCm39) probably benign Het
Hps3 T G 3: 20,057,443 (GRCm39) R780S probably damaging Het
Ifi44 G A 3: 151,455,135 (GRCm39) A30V probably damaging Het
Il12rb1 G A 8: 71,265,934 (GRCm39) probably benign Het
Invs G A 4: 48,392,628 (GRCm39) G281R possibly damaging Het
Itgax C A 7: 127,747,112 (GRCm39) probably benign Het
Jade1 G T 3: 41,568,218 (GRCm39) C762F possibly damaging Het
Lama1 C T 17: 68,079,813 (GRCm39) P1229S probably damaging Het
Mmp15 C A 8: 96,094,856 (GRCm39) D243E probably benign Het
Mug2 A G 6: 122,052,253 (GRCm39) T1004A probably benign Het
Myh14 A T 7: 44,314,791 (GRCm39) V44E probably damaging Het
N4bp2l1 C A 5: 150,517,869 (GRCm39) R11S possibly damaging Het
Notch4 T A 17: 34,784,306 (GRCm39) C36* probably null Het
Nwd1 A G 8: 73,397,672 (GRCm39) D637G probably damaging Het
Ogfod1 T C 8: 94,782,264 (GRCm39) I238T probably benign Het
Pakap G A 4: 57,688,441 (GRCm39) E95K probably damaging Het
Papln A G 12: 83,838,639 (GRCm39) D1256G possibly damaging Het
Ppp1r26 T C 2: 28,340,379 (GRCm39) L3P probably damaging Het
Rbm10 C T X: 20,503,903 (GRCm39) probably benign Het
Slc25a17 A G 15: 81,207,907 (GRCm39) probably benign Het
Socs4 T C 14: 47,528,112 (GRCm39) F349S probably damaging Het
Spata31f1a A G 4: 42,851,238 (GRCm39) V306A probably damaging Het
Tchhl1 A C 3: 93,378,878 (GRCm39) E527D probably benign Het
Tm7sf3 A G 6: 146,507,787 (GRCm39) L425S possibly damaging Het
Tmem266 G T 9: 55,322,239 (GRCm39) V112L probably damaging Het
Tmem30c T A 16: 57,090,539 (GRCm39) I223F possibly damaging Het
Tomm70a G A 16: 56,942,535 (GRCm39) G104D probably benign Het
Ttc17 G T 2: 94,163,148 (GRCm39) A834E probably benign Het
Ttn C T 2: 76,561,534 (GRCm39) V20664M probably damaging Het
Zbed5 T C 5: 129,931,020 (GRCm39) V323A probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GAGAACCCTATGGTGGCAGTTCAAG -3'
(R):5'- CATGCAGATTGAATAGCATGGCGG -3'

Sequencing Primer
(F):5'- gtcaaagtcacggaaagcag -3'
(R):5'- AGGAGTTGTATCCTGTATTTCCTGC -3'
Posted On 2013-09-30