Incidental Mutation 'IGL02614:Slc5a1'
ID 300599
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 # IGL02614
Quality Score
Status
Chromosome 5
Chromosomal Location 33261563-33320043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33311945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 446 (S446P)
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: S446P

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000011178
Gene: ENSMUSG00000011034
AA Change: S446P

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A T 5: 77,044,215 (GRCm39) probably benign Het
Acadsb A G 7: 131,026,357 (GRCm39) T67A probably benign Het
Aff2 A G X: 68,907,693 (GRCm39) D1225G possibly damaging Het
Atp2a2 T C 5: 122,627,366 (GRCm39) D133G probably benign Het
Cacul1 A T 19: 60,551,661 (GRCm39) M187K possibly damaging Het
Celf4 A G 18: 25,637,207 (GRCm39) Y263H probably damaging Het
Cmbl G T 15: 31,589,830 (GRCm39) V187F probably damaging Het
Epha1 T C 6: 42,337,491 (GRCm39) N896S probably benign Het
Fbxo27 G A 7: 28,396,201 (GRCm39) probably null Het
Galnt16 T C 12: 80,623,337 (GRCm39) S166P probably damaging Het
Gm1110 A G 9: 26,832,010 (GRCm39) V47A probably benign Het
Gmnn A G 13: 24,944,137 (GRCm39) probably benign Het
Gpbp1 T C 13: 111,573,007 (GRCm39) I382V probably benign Het
Gpr87 C A 3: 59,086,738 (GRCm39) V256L probably damaging Het
Il4ra C A 7: 125,174,962 (GRCm39) S390* probably null Het
Itprid1 A T 6: 55,945,262 (GRCm39) D661V probably damaging Het
Lrrc47 T C 4: 154,103,392 (GRCm39) probably null Het
Lrriq4 A T 3: 30,709,788 (GRCm39) L362F probably damaging Het
Lrrtm4 A T 6: 79,998,827 (GRCm39) N79Y probably benign Het
Nr1i2 T A 16: 38,074,118 (GRCm39) H165L probably damaging Het
Or10g1b T C 14: 52,627,627 (GRCm39) E201G probably damaging Het
Phf11a T A 14: 59,516,817 (GRCm39) T214S possibly damaging Het
Prr14l A T 5: 32,987,887 (GRCm39) I536K possibly damaging Het
Rpn1 T A 6: 88,079,087 (GRCm39) I510N probably benign Het
Sall4 A T 2: 168,597,805 (GRCm39) L20Q probably null Het
Sema3f T C 9: 107,559,710 (GRCm39) E759G probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tcn2 C A 11: 3,876,158 (GRCm39) S90I possibly damaging Het
Ttn T C 2: 76,542,331 (GRCm39) T31806A possibly damaging Het
Ubr1 T C 2: 120,701,460 (GRCm39) probably benign Het
Vac14 T G 8: 111,361,750 (GRCm39) L214R probably damaging Het
Vmn2r58 T C 7: 41,486,553 (GRCm39) K781E probably damaging Het
Vmn2r92 T C 17: 18,387,503 (GRCm39) probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp609 G A 9: 65,610,072 (GRCm39) P964S 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
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 2015-04-16