Incidental Mutation 'IGL01872:Slc5a1'
ID 178743
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc5a1
Ensembl Gene ENSMUSG00000011034
Gene Name solute carrier family 5 (sodium/glucose cotransporter), member 1
Synonyms sodium glucose cotransporter 1, Sglt1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # IGL01872
Quality Score
Status
Chromosome 5
Chromosomal Location 33261563-33320043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33311981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 458 (S458P)
Ref Sequence ENSEMBL: ENSMUSP00000011178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011178]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000011178
AA Change: S458P

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000011178
Gene: ENSMUSG00000011034
AA Change: S458P

DomainStartEndE-ValueType
transmembrane domain 26 48 N/A INTRINSIC
Pfam:SSF 58 492 2.6e-174 PFAM
transmembrane domain 526 548 N/A INTRINSIC
low complexity region 620 634 N/A INTRINSIC
transmembrane domain 641 663 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 encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality unless maintained on a glucose-galatose-free diet, distended intestine, impaired glucose transport across the brush border membrane and impaired renal glucose reabsorption. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik A T 9: 124,058,120 (GRCm39) probably benign Het
Alpk2 A G 18: 65,437,824 (GRCm39) S1657P probably benign Het
Alx4 A G 2: 93,507,818 (GRCm39) N371S probably benign Het
Cby1 T A 15: 79,549,943 (GRCm39) W59R probably damaging Het
Chmp1a A T 8: 123,932,976 (GRCm39) L159Q probably damaging Het
Ciz1 T C 2: 32,268,121 (GRCm39) probably benign Het
Cnksr1 A G 4: 133,956,275 (GRCm39) I603T probably benign Het
Dph1 A C 11: 75,072,167 (GRCm39) F220C probably damaging Het
Epha4 T A 1: 77,359,676 (GRCm39) M726L probably benign Het
Eps8l1 C T 7: 4,475,295 (GRCm39) probably benign Het
Fbxo24 C A 5: 137,611,987 (GRCm39) R313L probably damaging Het
Fgf4 C T 7: 144,415,995 (GRCm39) R119* probably null Het
Grb10 T C 11: 11,920,547 (GRCm39) T24A probably damaging Het
Ifi27l2a C T 12: 103,401,719 (GRCm39) A2V probably damaging Het
Ipmk T A 10: 71,208,706 (GRCm39) M165K probably damaging Het
Kcnk2 C T 1: 188,988,780 (GRCm39) G266R probably damaging Het
Mak A C 13: 41,210,131 (GRCm39) M35R probably damaging Het
Mlxipl A T 5: 135,142,545 (GRCm39) I120F probably damaging Het
Nav1 A G 1: 135,381,814 (GRCm39) V1423A probably damaging Het
Olfm4 T C 14: 80,259,368 (GRCm39) *506Q probably null Het
Opn4 T A 14: 34,319,166 (GRCm39) probably benign Het
Or13a26 T C 7: 140,284,176 (GRCm39) L4P possibly damaging Het
Or52ab2 T C 7: 102,970,179 (GRCm39) V187A probably benign Het
Or5g23 T A 2: 85,438,673 (GRCm39) M194L probably benign Het
Otof G A 5: 30,536,598 (GRCm39) probably benign Het
Pde5a G A 3: 122,588,018 (GRCm39) probably null Het
Pik3r1 A T 13: 101,825,625 (GRCm39) D87E probably benign Het
Rbm6 A T 9: 107,660,914 (GRCm39) V883E probably damaging Het
Rptn A G 3: 93,304,154 (GRCm39) S496G probably benign Het
Sap130 A G 18: 31,807,473 (GRCm39) R427G probably damaging Het
Slc26a4 T C 12: 31,589,202 (GRCm39) S415G probably benign Het
Smg1 A G 7: 117,748,167 (GRCm39) probably benign Het
Sspo G T 6: 48,431,623 (GRCm39) V639L probably damaging Het
Ttn A G 2: 76,729,077 (GRCm39) probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vps54 G A 11: 21,256,940 (GRCm39) A683T probably damaging Het
Zfp354a A T 11: 50,960,164 (GRCm39) N123I possibly damaging Het
Zfpm2 T C 15: 40,965,783 (GRCm39) V624A probably benign Het
Other mutations in Slc5a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01573:Slc5a1 APN 5 33,318,209 (GRCm39) missense probably benign
IGL01906:Slc5a1 APN 5 33,311,997 (GRCm39) missense probably damaging 1.00
IGL02614:Slc5a1 APN 5 33,311,945 (GRCm39) missense probably benign 0.02
IGL03241:Slc5a1 APN 5 33,290,749 (GRCm39) missense probably benign 0.00
IGL03336:Slc5a1 APN 5 33,304,287 (GRCm39) missense probably benign 0.24
R0314:Slc5a1 UTSW 5 33,303,995 (GRCm39) missense probably benign 0.02
R0421:Slc5a1 UTSW 5 33,291,996 (GRCm39) missense probably damaging 1.00
R0755:Slc5a1 UTSW 5 33,290,733 (GRCm39) missense probably benign 0.14
R0791:Slc5a1 UTSW 5 33,315,421 (GRCm39) splice site probably benign
R1506:Slc5a1 UTSW 5 33,312,052 (GRCm39) missense possibly damaging 0.72
R1801:Slc5a1 UTSW 5 33,304,297 (GRCm39) missense probably damaging 1.00
R2143:Slc5a1 UTSW 5 33,318,140 (GRCm39) missense probably benign
R2190:Slc5a1 UTSW 5 33,261,937 (GRCm39) critical splice donor site probably null
R3796:Slc5a1 UTSW 5 33,309,996 (GRCm39) missense probably damaging 1.00
R4423:Slc5a1 UTSW 5 33,312,018 (GRCm39) missense possibly damaging 0.49
R4465:Slc5a1 UTSW 5 33,303,860 (GRCm39) missense possibly damaging 0.89
R4588:Slc5a1 UTSW 5 33,302,632 (GRCm39) missense probably benign 0.01
R4722:Slc5a1 UTSW 5 33,304,055 (GRCm39) missense possibly damaging 0.86
R4826:Slc5a1 UTSW 5 33,316,494 (GRCm39) missense probably benign
R4934:Slc5a1 UTSW 5 33,261,858 (GRCm39) missense probably benign
R4955:Slc5a1 UTSW 5 33,318,246 (GRCm39) missense probably benign 0.02
R4963:Slc5a1 UTSW 5 33,318,126 (GRCm39) missense probably benign 0.00
R5008:Slc5a1 UTSW 5 33,309,917 (GRCm39) missense possibly damaging 0.75
R5094:Slc5a1 UTSW 5 33,315,624 (GRCm39) missense probably damaging 1.00
R5292:Slc5a1 UTSW 5 33,315,585 (GRCm39) missense probably benign
R5654:Slc5a1 UTSW 5 33,303,955 (GRCm39) missense probably benign 0.00
R6784:Slc5a1 UTSW 5 33,315,460 (GRCm39) missense probably benign 0.00
R7585:Slc5a1 UTSW 5 33,318,288 (GRCm39) missense probably damaging 1.00
R7734:Slc5a1 UTSW 5 33,318,279 (GRCm39) missense probably benign
R7751:Slc5a1 UTSW 5 33,290,761 (GRCm39) missense possibly damaging 0.63
R7827:Slc5a1 UTSW 5 33,304,057 (GRCm39) missense probably damaging 1.00
R8755:Slc5a1 UTSW 5 33,316,526 (GRCm39) missense probably benign 0.01
R9433:Slc5a1 UTSW 5 33,310,025 (GRCm39) missense probably benign 0.00
RF020:Slc5a1 UTSW 5 33,290,773 (GRCm39) missense probably damaging 1.00
X0064:Slc5a1 UTSW 5 33,291,980 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07