Incidental Mutation 'R5205:Slc17a5'
ID 398438
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 042780-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.705) question?
Stock # R5205 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 78443770-78495323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78485899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 62 (V62A)
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: V62A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056182
Gene: ENSMUSG00000049624
AA Change: V62A

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: V62A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113003
Gene: ENSMUSG00000049624
AA Change: V62A

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
Meta Mutation Damage Score 0.3876 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (54/54)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 G A 18: 59,101,880 (GRCm39) R650Q probably damaging Het
Adgre4 G T 17: 56,101,727 (GRCm39) E216* probably null Het
Aldh6a1 T A 12: 84,486,418 (GRCm39) M167L probably damaging Het
Asb16 G A 11: 102,159,820 (GRCm39) D58N probably damaging Het
Cfap43 C A 19: 47,885,987 (GRCm39) L209F possibly damaging Het
Cfh A G 1: 140,071,708 (GRCm39) C327R probably damaging Het
Chd7 T A 4: 8,752,509 (GRCm39) N335K possibly damaging Het
Clca3a1 T C 3: 144,452,545 (GRCm39) E646G possibly damaging Het
Col6a6 A T 9: 105,659,232 (GRCm39) V571D probably damaging Het
Cttnbp2 T C 6: 18,427,432 (GRCm39) probably benign Het
Dennd1b T A 1: 138,982,306 (GRCm39) S132T probably benign Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Dnaaf2 C T 12: 69,239,698 (GRCm39) V608I probably damaging Het
Edem3 A T 1: 151,687,270 (GRCm39) D717V probably damaging Het
Fam135a T C 1: 24,068,592 (GRCm39) N589S probably benign Het
Gm13991 G C 2: 116,358,681 (GRCm39) noncoding transcript Het
Ighv2-3 T C 12: 113,574,895 (GRCm39) S87G probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kcna2 T C 3: 107,004,462 (GRCm39) probably benign Het
Klra4 T A 6: 130,039,080 (GRCm39) N104I probably damaging Het
Lrrc28 A G 7: 67,181,516 (GRCm39) S240P probably benign Het
Majin T C 19: 6,245,789 (GRCm39) I27T possibly damaging Het
Mfhas1 G A 8: 36,058,161 (GRCm39) E879K probably benign Het
Mif-ps6 A T 9: 14,756,768 (GRCm39) noncoding transcript Het
Msh4 A G 3: 153,572,049 (GRCm39) L583P probably damaging Het
Nrxn1 A T 17: 90,471,302 (GRCm39) N1234K probably damaging Het
Or5b120 T C 19: 13,480,163 (GRCm39) L152P probably damaging Het
Orm1 T C 4: 63,262,929 (GRCm39) I32T possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Plppr2 A T 9: 21,852,370 (GRCm39) T85S probably damaging Het
Ppp1r9b T A 11: 94,892,124 (GRCm39) W604R probably benign Het
Prorp T A 12: 55,351,226 (GRCm39) Y178* probably null Het
Prss56 G T 1: 87,113,256 (GRCm39) D195Y probably damaging Het
Psme4 T A 11: 30,782,666 (GRCm39) probably benign Het
Rbm25 T A 12: 83,719,643 (GRCm39) D554E probably benign Het
Rbm6 A G 9: 107,665,542 (GRCm39) M618T probably benign Het
Slk T A 19: 47,613,899 (GRCm39) N918K possibly damaging Het
Syne1 C A 10: 5,002,295 (GRCm39) A8126S probably benign Het
Synj2 T C 17: 5,991,793 (GRCm39) L23S probably damaging Het
Taar2 A C 10: 23,816,874 (GRCm39) H138P probably benign Het
Taar7b A T 10: 23,875,916 (GRCm39) E27V probably benign Het
Tbc1d2b A G 9: 90,089,863 (GRCm39) Y889H probably damaging Het
Tmem43 T C 6: 91,463,763 (GRCm39) I346T possibly damaging Het
Ttc3 T A 16: 94,248,918 (GRCm39) C1139S probably benign Het
Txndc11 A G 16: 10,946,529 (GRCm39) V94A probably damaging Het
Ush2a T A 1: 188,607,133 (GRCm39) H4009Q probably benign Het
Wnk4 A G 11: 101,155,964 (GRCm39) E407G possibly damaging Het
Ybx1 G T 4: 119,136,348 (GRCm39) D261E probably damaging Het
Zfp985 A T 4: 147,667,368 (GRCm39) I79F 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
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
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
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'- AGATCCTGACCTGGGAAGAC -3'
(R):5'- GATAAAGGACTTATAAAGCCACAGC -3'

Sequencing Primer
(F):5'- TGACCTGGGAAGACTACCAAAC -3'
(R):5'- CTTTAATCTCAGCACTCGGAAGG -3'
Posted On 2016-07-06