Incidental Mutation 'IGL01906:Slc5a1'
ID 179672
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 # IGL01906
Quality Score
Status
Chromosome 5
Chromosomal Location 33261563-33320043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33311997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 463 (L463P)
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: L463P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000011178
Gene: ENSMUSG00000011034
AA Change: L463P

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
Abca13 A T 11: 9,166,225 (GRCm39) Q24L probably damaging Het
Adam1b A T 5: 121,639,538 (GRCm39) N502K probably benign Het
Adam6a T A 12: 113,507,951 (GRCm39) M108K probably benign Het
Akr1b10 A G 6: 34,364,746 (GRCm39) K69R probably benign Het
Ap5b1 T A 19: 5,621,007 (GRCm39) L809* probably null Het
Asxl3 A T 18: 22,655,338 (GRCm39) H1116L probably benign Het
Birc6 A G 17: 74,945,353 (GRCm39) T2794A probably damaging Het
Bst1 T C 5: 43,994,861 (GRCm39) F248L probably damaging Het
Cep120 A T 18: 53,847,984 (GRCm39) V625E probably benign Het
Cgnl1 T C 9: 71,631,849 (GRCm39) M501V probably benign Het
Col19a1 T A 1: 24,356,510 (GRCm39) D661V probably damaging Het
Copb2 A T 9: 98,462,383 (GRCm39) E456V probably benign Het
Csk A G 9: 57,536,304 (GRCm39) I201T probably damaging Het
Cttnbp2 G T 6: 18,378,375 (GRCm39) S977* probably null Het
Ddr2 A G 1: 169,809,668 (GRCm39) W770R probably damaging Het
Dnah7b T C 1: 46,214,613 (GRCm39) I1126T probably damaging Het
Ephb4 A T 5: 137,359,456 (GRCm39) E342V probably damaging Het
Erc2 T A 14: 27,863,263 (GRCm39) L496Q probably damaging Het
Faim2 G A 15: 99,412,314 (GRCm39) T140I probably damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Haus3 A C 5: 34,325,667 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,543,638 (GRCm39) T2846A probably benign Het
Mto1 T C 9: 78,372,213 (GRCm39) V561A probably benign Het
Myb T C 10: 21,028,533 (GRCm39) Y110C probably damaging Het
Or4k36 T C 2: 111,146,246 (GRCm39) C141R probably damaging Het
Plcd3 T C 11: 102,967,682 (GRCm39) Y420C probably damaging Het
Plk4 G T 3: 40,764,816 (GRCm39) M603I probably null Het
Scgb1b24 T C 7: 33,443,538 (GRCm39) C66R probably damaging Het
Sec23a T C 12: 59,053,830 (GRCm39) Y56C probably damaging Het
Setd1b C A 5: 123,295,730 (GRCm39) D1099E unknown Het
Sh2d7 G A 9: 54,446,750 (GRCm39) probably benign Het
Slc30a10 A T 1: 185,188,593 (GRCm39) K221* probably null Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Strc T C 2: 121,208,115 (GRCm39) T419A probably benign Het
Styxl2 A C 1: 165,927,092 (GRCm39) L840R probably damaging Het
Ttc39a T C 4: 109,278,591 (GRCm39) M82T probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vps13b T C 15: 35,639,993 (GRCm39) probably benign Het
Other mutations in Slc5a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01573:Slc5a1 APN 5 33,318,209 (GRCm39) missense probably benign
IGL01872:Slc5a1 APN 5 33,311,981 (GRCm39) missense probably damaging 0.97
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