Incidental Mutation 'IGL03336:Slc5a1'
ID 417044
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 # IGL03336
Quality Score
Status
Chromosome 5
Chromosomal Location 33261563-33320043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 33304287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 296 (V296I)
Ref Sequence ENSEMBL: ENSMUSP00000011178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011178]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000011178
AA Change: V296I

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000011178
Gene: ENSMUSG00000011034
AA Change: V296I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202802
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A G 15: 59,888,251 (GRCm39) V63A probably benign Het
Ankrd11 A G 8: 123,618,582 (GRCm39) S1757P probably benign Het
Atp8a1 G T 5: 67,887,150 (GRCm39) Y629* probably null Het
Cenpf T C 1: 189,384,844 (GRCm39) K2479E probably damaging Het
Clip1 G T 5: 123,791,633 (GRCm39) S179* probably null Het
Cmya5 A G 13: 93,230,013 (GRCm39) S1692P possibly damaging Het
Cyp17a1 T C 19: 46,659,474 (GRCm39) S119G probably benign Het
Fndc5 T C 4: 129,033,711 (GRCm39) F160L probably benign Het
Muc5b T C 7: 141,418,100 (GRCm39) V3682A probably damaging Het
Myh8 G T 11: 67,175,528 (GRCm39) D328Y probably damaging Het
Or10a5 T A 7: 106,635,542 (GRCm39) M60K probably damaging Het
Or4c121 T C 2: 89,024,241 (GRCm39) T46A probably benign Het
Or51f1 C T 7: 102,505,823 (GRCm39) C222Y probably benign Het
Or51k2 T C 7: 103,596,616 (GRCm39) L281P probably damaging Het
Or6c203 T C 10: 129,010,098 (GRCm39) E264G probably benign Het
Paxbp1 T C 16: 90,831,060 (GRCm39) I439V probably benign Het
Pcdhb3 T C 18: 37,436,014 (GRCm39) V660A possibly damaging Het
Pcyt2 T C 11: 120,506,758 (GRCm39) D32G probably damaging Het
Pdzph1 A T 17: 59,281,229 (GRCm39) V351D probably benign Het
Ribc2 C T 15: 85,017,114 (GRCm39) Q51* probably null Het
Scn2a A G 2: 65,519,088 (GRCm39) E438G probably damaging Het
Slc18a3 T C 14: 32,184,785 (GRCm39) probably benign Het
Slit3 A T 11: 35,560,928 (GRCm39) T958S probably damaging Het
Spag8 C T 4: 43,652,114 (GRCm39) probably benign Het
Susd3 A C 13: 49,392,258 (GRCm39) S144R probably benign Het
Synpo2 T C 3: 122,907,828 (GRCm39) E496G possibly damaging Het
Tbcel T C 9: 42,350,427 (GRCm39) T269A probably benign Het
Tmem156 A G 5: 65,233,107 (GRCm39) Y152H probably benign Het
Tmem247 A G 17: 87,225,857 (GRCm39) E99G probably damaging Het
Tuba3b A G 6: 145,565,450 (GRCm39) D306G possibly damaging Het
Vps13c T A 9: 67,858,924 (GRCm39) D2791E possibly damaging Het
Ypel4 A G 2: 84,567,871 (GRCm39) Y98C probably damaging 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
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
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 2016-08-02