Incidental Mutation 'IGL01603:Slc17a5'
ID92212
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc17a5
Ensembl Gene ENSMUSG00000049624
Gene Namesolute carrier family 17 (anion/sugar transporter), member 5
Synonyms4631416G20Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.258) question?
Stock #IGL01603
Quality Score
Status
Chromosome9
Chromosomal Location78536488-78588041 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78574707 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 160 (W160R)
Ref Sequence ENSEMBL: ENSMUSP00000113003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052441] [ENSMUST00000117645]
Predicted Effect probably damaging
Transcript: ENSMUST00000052441
AA Change: W186R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056182
Gene: ENSMUSG00000049624
AA Change: W186R

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: W160R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113003
Gene: ENSMUSG00000049624
AA Change: W160R

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l T A 17: 32,345,353 D20V probably damaging Het
Akr1c12 A G 13: 4,272,927 probably null Het
Baiap2l1 C T 5: 144,280,815 probably benign Het
Baz2a T C 10: 128,111,168 F184L probably damaging Het
BC049730 T A 7: 24,712,529 W45R probably damaging Het
Cadps T C 14: 12,454,154 probably benign Het
Cbr4 A T 8: 61,503,211 *237Y probably null Het
Cln3 T G 7: 126,575,354 N275T probably benign Het
Csf1r A G 18: 61,129,301 E823G probably damaging Het
Ctr9 C A 7: 111,049,331 A726D probably damaging Het
Def6 C T 17: 28,219,740 probably benign Het
Dock4 T A 12: 40,693,031 I395N probably damaging Het
Eln T C 5: 134,719,040 probably benign Het
Fasn A T 11: 120,816,065 H920Q probably damaging Het
Glb1l3 A G 9: 26,859,536 I78T probably damaging Het
Gm7275 A T 16: 48,073,579 noncoding transcript Het
Grm5 A C 7: 87,603,178 Y212S probably damaging Het
Gtf2ird2 T C 5: 134,202,288 probably benign Het
Gucy1b1 A G 3: 82,034,868 V528A probably damaging Het
Hspg2 G A 4: 137,552,803 A3168T probably damaging Het
Kcnj6 A G 16: 94,833,199 S18P probably benign Het
Kcnq5 T A 1: 21,505,340 K294I possibly damaging Het
Lama4 G A 10: 39,065,646 G693E possibly damaging Het
Ldb1 A T 19: 46,035,575 I124K probably damaging Het
Lrrfip1 C T 1: 91,115,913 T680I probably benign Het
Map3k19 T A 1: 127,830,273 D186V possibly damaging Het
Mrgprx2 T C 7: 48,482,626 Y148C probably damaging Het
Muc4 G A 16: 32,750,655 A178T probably benign Het
Mylip A C 13: 45,390,003 E16A probably benign Het
Nek9 A G 12: 85,305,605 F828S probably damaging Het
Obscn A G 11: 59,037,805 F6012L probably damaging Het
Olfr1394 A C 11: 49,160,611 D199A probably damaging Het
Olfr298 A G 7: 86,488,931 S207P possibly damaging Het
Olfr474 A G 7: 107,955,373 Y244C possibly damaging Het
Pcid2 T A 8: 13,079,936 K273N possibly damaging Het
Plekhm3 C T 1: 64,921,832 D422N probably damaging Het
Prr12 T C 7: 45,043,485 H1541R probably damaging Het
Psg26 A C 7: 18,475,103 V460G probably damaging Het
Rbmxl1 G A 8: 78,505,830 R295* probably null Het
Sbf1 A T 15: 89,303,278 V690E probably damaging Het
Serpinb2 T A 1: 107,522,180 S108T probably benign Het
Sin3b T C 8: 72,750,064 Y709H probably damaging Het
Spef2 T A 15: 9,704,380 D449V probably damaging Het
Tas2r108 C A 6: 40,493,786 N65K possibly damaging Het
Tex15 T A 8: 33,573,547 F1002I possibly damaging Het
Trpm5 G A 7: 143,075,601 S942L probably benign Het
Tspan5 T C 3: 138,890,756 S52P probably damaging Het
Uqcrfs1 T C 13: 30,541,198 T120A probably benign Het
Usp6nl T C 2: 6,423,435 F193L probably damaging Het
Vmn2r26 T A 6: 124,053,874 C523S probably damaging Het
Wfdc2 C T 2: 164,564,059 P92S probably benign Het
Zbtb18 A T 1: 177,447,983 H303L probably benign Het
Zfp174 A T 16: 3,854,289 H234L probably benign Het
Zmynd12 T C 4: 119,441,920 probably null Het
Other mutations in Slc17a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Slc17a5 APN 9 78578534 missense probably benign
IGL00828:Slc17a5 APN 9 78578551 missense probably benign 0.37
IGL01945:Slc17a5 APN 9 78587932 missense probably benign 0.01
IGL03250:Slc17a5 APN 9 78578564 missense probably damaging 0.99
R0136:Slc17a5 UTSW 9 78578674 missense probably damaging 1.00
R0245:Slc17a5 UTSW 9 78540924 missense probably benign 0.00
R0305:Slc17a5 UTSW 9 78557537 missense probably benign 0.25
R0481:Slc17a5 UTSW 9 78538302 splice site probably null
R0657:Slc17a5 UTSW 9 78578674 missense probably damaging 1.00
R0763:Slc17a5 UTSW 9 78553090 splice site probably benign
R1543:Slc17a5 UTSW 9 78560800 missense probably benign 0.01
R1564:Slc17a5 UTSW 9 78578699 missense probably damaging 0.98
R2155:Slc17a5 UTSW 9 78577173 missense probably damaging 1.00
R2483:Slc17a5 UTSW 9 78538274 missense probably damaging 1.00
R3623:Slc17a5 UTSW 9 78538274 missense probably damaging 1.00
R4193:Slc17a5 UTSW 9 78559106 missense possibly damaging 0.58
R4794:Slc17a5 UTSW 9 78574715 missense probably damaging 0.96
R5115:Slc17a5 UTSW 9 78577112 missense probably benign 0.12
R5141:Slc17a5 UTSW 9 78540988 missense probably damaging 1.00
R5205:Slc17a5 UTSW 9 78578617 missense probably damaging 1.00
R5953:Slc17a5 UTSW 9 78557498 missense probably damaging 1.00
R6481:Slc17a5 UTSW 9 78538271 missense possibly damaging 0.87
Posted On2013-12-09