Incidental Mutation 'IGL01360:Slc5a10'
ID 75722
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc5a10
Ensembl Gene ENSMUSG00000042371
Gene Name solute carrier family 5 (sodium/glucose cotransporter), member 10
Synonyms SGLT5, C330021F16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL01360
Quality Score
Status
Chromosome 11
Chromosomal Location 61563608-61611641 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61605962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 116 (V116A)
Ref Sequence ENSEMBL: ENSMUSP00000118196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051552] [ENSMUST00000148584] [ENSMUST00000151780]
AlphaFold Q5SWY8
Predicted Effect probably damaging
Transcript: ENSMUST00000051552
AA Change: V118A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000054407
Gene: ENSMUSG00000042371
AA Change: V118A

DomainStartEndE-ValueType
Pfam:SSF 50 479 2.4e-139 PFAM
transmembrane domain 513 535 N/A INTRINSIC
transmembrane domain 576 595 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128196
Predicted Effect possibly damaging
Transcript: ENSMUST00000148584
AA Change: V118A

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000114523
Gene: ENSMUSG00000042371
AA Change: V118A

DomainStartEndE-ValueType
Pfam:SSF 50 479 2.4e-139 PFAM
transmembrane domain 513 535 N/A INTRINSIC
transmembrane domain 576 595 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000151780
AA Change: V116A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118196
Gene: ENSMUSG00000042371
AA Change: V116A

DomainStartEndE-ValueType
Pfam:SSF 48 185 3.5e-44 PFAM
Pfam:SSF 182 450 5e-79 PFAM
transmembrane domain 484 506 N/A INTRINSIC
transmembrane domain 547 566 N/A INTRINSIC
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 is a member of the sodium/glucose transporter family. Members of this family are sodium-dependent transporters and can be divided into two subfamilies based on sequence homology, one that co-transports sugars and the second that transports molecules such as ascorbate, choline, iodide, lipoate, monocaroboxylates, and pantothenate. The protein encoded by this gene has the highest affinity for mannose and has been reported to be most highly expressed in the kidney. This protein may function as a kidney-specific, sodium-dependent mannose and fructose co-transporter. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a targeted allele exhibit impaired fructose reabsorption in the kidneys and exacerbated hepatic steatosis induced by fructose. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,325,648 (GRCm39) I1517L possibly damaging Het
Akap12 A T 10: 4,307,537 (GRCm39) D1449V probably benign Het
Alg6 T A 4: 99,630,643 (GRCm39) Y161N probably benign Het
Arhgap45 A T 10: 79,864,482 (GRCm39) probably benign Het
Arhgap5 A T 12: 52,565,023 (GRCm39) I665F probably damaging Het
Bbs4 A G 9: 59,247,131 (GRCm39) V123A possibly damaging Het
Carm1 C T 9: 21,498,598 (GRCm39) T480I probably benign Het
Catsperb G A 12: 101,591,513 (GRCm39) V1032M probably damaging Het
Cdc42bpb A C 12: 111,308,509 (GRCm39) I101S probably damaging Het
Copa C A 1: 171,915,155 (GRCm39) probably null Het
Cramp1 T C 17: 25,216,547 (GRCm39) I189V probably damaging Het
Dhx33 G A 11: 70,884,687 (GRCm39) Q40* probably null Het
Egf A T 3: 129,533,669 (GRCm39) F57Y probably damaging Het
Flt4 T C 11: 49,534,333 (GRCm39) I1168T probably benign Het
Gm14178 A G 11: 99,638,269 (GRCm39) S37P unknown Het
Gpbp1 A T 13: 111,563,075 (GRCm39) probably benign Het
Herc1 T C 9: 66,390,981 (GRCm39) S3980P probably benign Het
Itga6 T C 2: 71,617,670 (GRCm39) probably null Het
Itgb4 T C 11: 115,881,766 (GRCm39) S772P probably damaging Het
Kcng4 C A 8: 120,352,416 (GRCm39) G498V probably benign Het
Lrp1 T G 10: 127,381,689 (GRCm39) D3795A possibly damaging Het
Lrrk2 T A 15: 91,584,772 (GRCm39) probably null Het
Mettl25 A T 10: 105,659,058 (GRCm39) H408Q probably damaging Het
Mki67 T C 7: 135,307,505 (GRCm39) E457G probably damaging Het
Mpl G A 4: 118,312,858 (GRCm39) T158I possibly damaging Het
Mtg2 C T 2: 179,725,870 (GRCm39) T160I probably damaging Het
Mtif2 A G 11: 29,480,110 (GRCm39) I59V probably benign Het
Ncapg C A 5: 45,831,727 (GRCm39) S191* probably null Het
Nup214 T C 2: 31,928,190 (GRCm39) probably benign Het
Or9m1 T C 2: 87,733,871 (GRCm39) T50A probably benign Het
Phf3 T A 1: 30,847,809 (GRCm39) T1245S probably damaging Het
Piezo2 T C 18: 63,250,770 (GRCm39) D443G probably damaging Het
Pramel19 A T 4: 101,797,665 (GRCm39) D21V possibly damaging Het
Ptchd4 C A 17: 42,627,936 (GRCm39) H132Q probably benign Het
Pum1 T C 4: 130,455,481 (GRCm39) probably benign Het
Slc30a7 A T 3: 115,783,765 (GRCm39) V136E probably damaging Het
Sos2 A T 12: 69,637,574 (GRCm39) S1046T probably benign Het
Svep1 A G 4: 58,116,554 (GRCm39) S899P possibly damaging Het
Tfr2 G A 5: 137,569,953 (GRCm39) V120I probably benign Het
Tnfrsf18 A T 4: 156,112,493 (GRCm39) R117* probably null Het
Trmt9b A G 8: 36,979,713 (GRCm39) I439V probably benign Het
Vmn1r77 T G 7: 11,775,315 (GRCm39) F30L probably benign Het
Vmn2r112 T C 17: 22,837,603 (GRCm39) M688T probably benign Het
Vmn2r93 T A 17: 18,525,510 (GRCm39) D389E possibly damaging Het
Zpld1 T G 16: 55,046,748 (GRCm39) N407T probably benign Het
Zranb3 C T 1: 127,887,622 (GRCm39) W935* probably null Het
Zyx G A 6: 42,327,378 (GRCm39) R59Q probably damaging Het
Other mutations in Slc5a10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02215:Slc5a10 APN 11 61,564,738 (GRCm39) missense probably benign 0.00
IGL02354:Slc5a10 APN 11 61,610,666 (GRCm39) critical splice donor site probably null
IGL02361:Slc5a10 APN 11 61,610,666 (GRCm39) critical splice donor site probably null
IGL02573:Slc5a10 APN 11 61,563,898 (GRCm39) missense possibly damaging 0.89
IGL02712:Slc5a10 APN 11 61,598,632 (GRCm39) nonsense probably null
R1535:Slc5a10 UTSW 11 61,564,767 (GRCm39) missense possibly damaging 0.65
R1659:Slc5a10 UTSW 11 61,567,070 (GRCm39) missense possibly damaging 0.94
R1698:Slc5a10 UTSW 11 61,600,428 (GRCm39) missense probably benign 0.44
R2161:Slc5a10 UTSW 11 61,610,760 (GRCm39) missense probably null 0.17
R4948:Slc5a10 UTSW 11 61,610,708 (GRCm39) missense probably damaging 0.98
R5686:Slc5a10 UTSW 11 61,569,392 (GRCm39) missense probably benign 0.19
R5689:Slc5a10 UTSW 11 61,598,710 (GRCm39) missense probably benign 0.16
R7398:Slc5a10 UTSW 11 61,564,405 (GRCm39) missense probably benign
R7769:Slc5a10 UTSW 11 61,564,473 (GRCm39) missense probably damaging 1.00
R8234:Slc5a10 UTSW 11 61,564,107 (GRCm39) missense probably benign
R8257:Slc5a10 UTSW 11 61,605,873 (GRCm39) missense probably damaging 1.00
R8492:Slc5a10 UTSW 11 61,564,809 (GRCm39) missense probably benign 0.00
Posted On 2013-10-07