Incidental Mutation 'IGL03241:Slc5a1'
ID 414287
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 # IGL03241
Quality Score
Status
Chromosome 5
Chromosomal Location 33261563-33320043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33290749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 111 (V111A)
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: V111A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000011178
Gene: ENSMUSG00000011034
AA Change: V111A

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T A 8: 87,236,436 (GRCm39) E1126V possibly damaging Het
Acnat1 A G 4: 49,447,702 (GRCm39) V275A probably benign Het
Adamts15 G A 9: 30,815,781 (GRCm39) P692S probably damaging Het
Aqp7 A T 4: 41,045,270 (GRCm39) probably benign Het
Arhgap26 A T 18: 39,362,970 (GRCm39) I413F probably damaging Het
Cdc25a T C 9: 109,713,267 (GRCm39) probably null Het
Cdh18 C T 15: 23,227,019 (GRCm39) T160I probably benign Het
Cfap206 T C 4: 34,711,553 (GRCm39) Y448C probably damaging Het
Clec4a4 T C 6: 122,967,332 (GRCm39) S3P probably damaging Het
Dhx38 A T 8: 110,289,288 (GRCm39) H37Q possibly damaging Het
F7 A T 8: 13,078,779 (GRCm39) E70V probably damaging Het
Nbeal1 A T 1: 60,274,027 (GRCm39) Q418H possibly damaging Het
Nbeal1 G A 1: 60,274,028 (GRCm39) E419K probably benign Het
Nebl A G 2: 17,397,975 (GRCm39) probably null Het
Or4k15b T A 14: 50,272,525 (GRCm39) M112L possibly damaging Het
Pfkm T C 15: 98,021,061 (GRCm39) V293A probably benign Het
Slc36a3 A G 11: 55,015,934 (GRCm39) S407P possibly damaging Het
St6galnac5 G T 3: 152,552,223 (GRCm39) Q115K probably benign Het
Tex56 G T 13: 35,128,313 (GRCm39) A177S probably damaging Het
Timmdc1 G A 16: 38,331,071 (GRCm39) probably benign Het
Trim34b T C 7: 103,983,820 (GRCm39) probably benign Het
Trim75 A T 8: 65,435,358 (GRCm39) I364N probably damaging Het
Vmn1r27 T A 6: 58,192,126 (GRCm39) N293Y probably benign Het
Vmn2r88 A G 14: 51,655,830 (GRCm39) T689A probably benign Het
Vmn2r97 T C 17: 19,148,438 (GRCm39) V111A probably benign Het
Zfp114 C T 7: 23,880,437 (GRCm39) T261I probably benign Het
Zfp516 A G 18: 83,005,645 (GRCm39) T850A 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
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
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 2016-08-02