Incidental Mutation 'R8234:Slc5a10'
ID 637276
Institutional Source Beutler Lab
Gene Symbol Slc5a10
Ensembl Gene ENSMUSG00000042371
Gene Name solute carrier family 5 (sodium/glucose cotransporter), member 10
Synonyms SGLT5, C330021F16Rik
MMRRC Submission 067666-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R8234 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 61563608-61611641 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61564107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 543 (I543V)
Ref Sequence ENSEMBL: ENSMUSP00000054407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004959] [ENSMUST00000051552] [ENSMUST00000148584] [ENSMUST00000151780]
AlphaFold Q5SWY8
Predicted Effect probably benign
Transcript: ENSMUST00000004959
SMART Domains Protein: ENSMUSP00000004959
Gene: ENSMUSG00000004837

DomainStartEndE-ValueType
SH3 1 57 5.43e-18 SMART
SH2 58 141 1.9e-33 SMART
SH3 161 216 3.32e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000051552
AA Change: I543V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054407
Gene: ENSMUSG00000042371
AA Change: I543V

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 benign
Transcript: ENSMUST00000148584
AA Change: I543V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114523
Gene: ENSMUSG00000042371
AA Change: I543V

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 benign
Transcript: ENSMUST00000151780
AA Change: I514V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118196
Gene: ENSMUSG00000042371
AA Change: I514V

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
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.8%
Validation Efficiency 100% (49/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd4 T A 14: 54,499,133 (GRCm39) M38K probably benign Het
Ackr1 T A 1: 173,159,582 (GRCm39) R312S probably benign Het
Akap9 T C 5: 4,094,845 (GRCm39) V2213A probably benign Het
Alox5 T A 6: 116,390,835 (GRCm39) R439W probably damaging Het
Atrn A T 2: 130,864,920 (GRCm39) probably null Het
Casd1 A G 6: 4,601,209 (GRCm39) N14S probably damaging Het
Cry2 T C 2: 92,242,974 (GRCm39) S542G probably benign Het
Cyb5rl A G 4: 106,925,935 (GRCm39) Y39C probably damaging Het
Dmpk A T 7: 18,822,048 (GRCm39) K335N probably benign Het
Dnai1 A G 4: 41,625,221 (GRCm39) D395G probably benign Het
Dock4 C T 12: 40,884,837 (GRCm39) probably null Het
Eif1ad5 A T 12: 87,940,508 (GRCm39) I71L noncoding transcript Het
Fmo4 T C 1: 162,632,757 (GRCm39) D198G probably damaging Het
Foxc2 G A 8: 121,844,777 (GRCm39) R475Q probably damaging Het
Gipr C A 7: 18,898,533 (GRCm39) G37V unknown Het
Gpat3 T C 5: 101,005,076 (GRCm39) probably null Het
Hcn4 A G 9: 58,751,433 (GRCm39) D353G unknown Het
Hectd4 T A 5: 121,477,607 (GRCm39) N2843K possibly damaging Het
Hmcn1 C T 1: 150,469,761 (GRCm39) V4973M possibly damaging Het
Il20rb C T 9: 100,341,263 (GRCm39) S281N probably benign Het
Kcnh4 A T 11: 100,643,093 (GRCm39) N391K possibly damaging Het
Kitl A G 10: 99,887,708 (GRCm39) T6A probably damaging Het
Krt36 A G 11: 99,995,027 (GRCm39) Y182H probably damaging Het
Lrp1b T G 2: 41,202,668 (GRCm39) I1262L Het
Mtf1 A G 4: 124,738,039 (GRCm39) E644G probably benign Het
Mtx2 A G 2: 74,699,706 (GRCm39) Y159C probably damaging Het
Nags C T 11: 102,039,824 (GRCm39) S504F probably damaging Het
Ncam1 A T 9: 49,456,523 (GRCm39) F475L probably damaging Het
Nipal2 G T 15: 34,600,178 (GRCm39) T213N possibly damaging Het
Or52m1 T A 7: 102,289,678 (GRCm39) L75Q probably damaging Het
Or8h8 A G 2: 86,753,313 (GRCm39) S188P probably damaging Het
Pkm T C 9: 59,577,882 (GRCm39) V233A possibly damaging Het
Pros1 T A 16: 62,748,540 (GRCm39) I671N possibly damaging Het
Rasd1 T C 11: 59,855,118 (GRCm39) I121V probably damaging Het
Relch T C 1: 105,681,235 (GRCm39) S1180P possibly damaging Het
Samhd1 A G 2: 156,958,270 (GRCm39) probably null Het
Serpinb9f A T 13: 33,509,898 (GRCm39) Y30F probably benign Het
Stat5a A G 11: 100,770,129 (GRCm39) I469V possibly damaging Het
Sugct T C 13: 17,032,459 (GRCm39) E431G probably benign Het
Tecr C A 8: 84,299,880 (GRCm39) R133L possibly damaging Het
Tiparp A G 3: 65,439,002 (GRCm39) N106S probably benign Het
Triml1 T C 8: 43,594,285 (GRCm39) S49G probably benign Het
Trpm3 T A 19: 22,692,640 (GRCm39) S244T possibly damaging Het
Ttn T C 2: 76,553,324 (GRCm39) D31055G probably damaging Het
Vcp A T 4: 42,985,242 (GRCm39) I369N probably damaging Het
Vmn2r110 A C 17: 20,804,691 (GRCm39) N76K probably benign Het
Vmn2r12 T C 5: 109,234,074 (GRCm39) T713A probably benign Het
Vmn2r17 A T 5: 109,601,235 (GRCm39) K844N probably benign Het
Other mutations in Slc5a10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01360:Slc5a10 APN 11 61,605,962 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- GAAAGCACGTTTCTGGGGTG -3'
(R):5'- CTGACCTGTCTCTGACGGATTC -3'

Sequencing Primer
(F):5'- TTTGGCCATCACCTAGAGGAG -3'
(R):5'- GTCTCTGACGGATTCCTGAC -3'
Posted On 2020-07-13