Incidental Mutation 'IGL01872:Slc5a1'
ID178743
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc5a1
Ensembl Gene ENSMUSG00000011034
Gene Namesolute carrier family 5 (sodium/glucose cotransporter), member 1
SynonymsSglt1, sodium glucose cotransporter 1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.159) question?
Stock #IGL01872
Quality Score
Status
Chromosome5
Chromosomal Location33104219-33162870 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 33154637 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 458 (S458P)
Ref Sequence ENSEMBL: ENSMUSP00000011178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011178]
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: 124,295,490 probably benign Het
Alpk2 A G 18: 65,304,753 S1657P probably benign Het
Alx4 A G 2: 93,677,473 N371S probably benign Het
Cby1 T A 15: 79,665,742 W59R probably damaging Het
Chmp1a A T 8: 123,206,237 L159Q probably damaging Het
Ciz1 T C 2: 32,378,109 probably benign Het
Cnksr1 A G 4: 134,228,964 I603T probably benign Het
Dph1 A C 11: 75,181,341 F220C probably damaging Het
Epha4 T A 1: 77,383,039 M726L probably benign Het
Eps8l1 C T 7: 4,472,296 probably benign Het
Fbxo24 C A 5: 137,613,725 R313L probably damaging Het
Fgf4 C T 7: 144,862,258 R119* probably null Het
Grb10 T C 11: 11,970,547 T24A probably damaging Het
Ifi27 C T 12: 103,435,460 A2V probably damaging Het
Ipmk T A 10: 71,372,876 M165K probably damaging Het
Kcnk2 C T 1: 189,256,583 G266R probably damaging Het
Mak A C 13: 41,056,655 M35R probably damaging Het
Mlxipl A T 5: 135,113,691 I120F probably damaging Het
Nav1 A G 1: 135,454,076 V1423A probably damaging Het
Olfm4 T C 14: 80,021,928 *506Q probably null Het
Olfr1000 T A 2: 85,608,329 M194L probably benign Het
Olfr541 T C 7: 140,704,263 L4P possibly damaging Het
Olfr597 T C 7: 103,320,972 V187A probably benign Het
Opn4 T A 14: 34,597,209 probably benign Het
Otof G A 5: 30,379,254 probably benign Het
Pde5a G A 3: 122,794,369 probably null Het
Pik3r1 A T 13: 101,689,117 D87E probably benign Het
Rbm6 A T 9: 107,783,715 V883E probably damaging Het
Rptn A G 3: 93,396,847 S496G probably benign Het
Sap130 A G 18: 31,674,420 R427G probably damaging Het
Slc26a4 T C 12: 31,539,203 S415G probably benign Het
Smg1 A G 7: 118,148,944 probably benign Het
Sspo G T 6: 48,454,689 V639L probably damaging Het
Ttn A G 2: 76,898,733 probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps54 G A 11: 21,306,940 A683T probably damaging Het
Zfp354a A T 11: 51,069,337 N123I possibly damaging Het
Zfpm2 T C 15: 41,102,387 V624A probably benign Het
Other mutations in Slc5a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01573:Slc5a1 APN 5 33160865 missense probably benign
IGL01906:Slc5a1 APN 5 33154653 missense probably damaging 1.00
IGL02614:Slc5a1 APN 5 33154601 missense probably benign 0.02
IGL03241:Slc5a1 APN 5 33133405 missense probably benign 0.00
IGL03336:Slc5a1 APN 5 33146943 missense probably benign 0.24
R0314:Slc5a1 UTSW 5 33146651 missense probably benign 0.02
R0421:Slc5a1 UTSW 5 33134652 missense probably damaging 1.00
R0755:Slc5a1 UTSW 5 33133389 missense probably benign 0.14
R0791:Slc5a1 UTSW 5 33158077 splice site probably benign
R1506:Slc5a1 UTSW 5 33154708 missense possibly damaging 0.72
R1801:Slc5a1 UTSW 5 33146953 missense probably damaging 1.00
R2143:Slc5a1 UTSW 5 33160796 missense probably benign
R2190:Slc5a1 UTSW 5 33104593 critical splice donor site probably null
R3796:Slc5a1 UTSW 5 33152652 missense probably damaging 1.00
R4423:Slc5a1 UTSW 5 33154674 missense possibly damaging 0.49
R4465:Slc5a1 UTSW 5 33146516 missense possibly damaging 0.89
R4588:Slc5a1 UTSW 5 33145288 missense probably benign 0.01
R4722:Slc5a1 UTSW 5 33146711 missense possibly damaging 0.86
R4826:Slc5a1 UTSW 5 33159150 missense probably benign
R4934:Slc5a1 UTSW 5 33104514 missense probably benign
R4955:Slc5a1 UTSW 5 33160902 missense probably benign 0.02
R4963:Slc5a1 UTSW 5 33160782 missense probably benign 0.00
R5008:Slc5a1 UTSW 5 33152573 missense possibly damaging 0.75
R5094:Slc5a1 UTSW 5 33158280 missense probably damaging 1.00
R5292:Slc5a1 UTSW 5 33158241 missense probably benign
R5654:Slc5a1 UTSW 5 33146611 missense probably benign 0.00
R6784:Slc5a1 UTSW 5 33158116 missense probably benign 0.00
R7585:Slc5a1 UTSW 5 33160944 missense probably damaging 1.00
R7734:Slc5a1 UTSW 5 33160935 missense probably benign
X0064:Slc5a1 UTSW 5 33134636 missense probably damaging 0.99
Posted On2014-05-07