Incidental Mutation 'IGL01573:Slc5a1'
ID 91167
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 # IGL01573
Quality Score
Status
Chromosome 5
Chromosomal Location 33261563-33320043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33318209 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 621 (M621V)
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: M621V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000011178
Gene: ENSMUSG00000011034
AA Change: M621V

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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B3gntl1 A G 11: 121,561,789 (GRCm39) S58P probably damaging Het
Cacna1e T C 1: 154,347,113 (GRCm39) D1018G probably benign Het
Cenpq T C 17: 41,240,936 (GRCm39) I108V possibly damaging Het
Il7 T C 3: 7,638,903 (GRCm39) I154M possibly damaging Het
Itga9 C A 9: 118,706,298 (GRCm39) probably benign Het
Klhl1 A G 14: 96,438,640 (GRCm39) probably benign Het
Lrrc72 T A 12: 36,262,561 (GRCm39) probably null Het
Mbd3 G T 10: 80,229,095 (GRCm39) Q233K probably benign Het
Mettl5 G A 2: 69,711,659 (GRCm39) A69V probably damaging Het
Naip1 C A 13: 100,563,890 (GRCm39) C425F probably benign Het
Ncor2 T C 5: 125,162,090 (GRCm39) I395V unknown Het
Nelfb A G 2: 25,093,969 (GRCm39) L393P probably damaging Het
Or4a70 A T 2: 89,324,545 (GRCm39) M37K probably damaging Het
Rgs5 T C 1: 169,504,413 (GRCm39) I21T probably benign Het
Slc22a2 G A 17: 12,824,848 (GRCm39) V237I probably damaging Het
Slco1a4 A G 6: 141,758,577 (GRCm39) probably benign Het
Smg1 A G 7: 117,767,185 (GRCm39) probably benign Het
Trim3 A G 7: 105,274,700 (GRCm39) M15T possibly damaging Het
Other mutations in Slc5a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-12-09