Incidental Mutation 'IGL02680:Rsc1a1'
ID 303323
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rsc1a1
Ensembl Gene ENSMUSG00000040715
Gene Name regulatory solute carrier protein, family 1, member 1
Synonyms OTTMUSG00000010365, mRS1, RS1
Accession Numbers
Essential gene? Not available question?
Stock # IGL02680
Quality Score
Status
Chromosome 4
Chromosomal Location 141411162-141412910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 141412408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 168 (V168A)
Ref Sequence ENSEMBL: ENSMUSP00000136018 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102484] [ENSMUST00000105782] [ENSMUST00000177592]
AlphaFold Q9ER99
Predicted Effect probably benign
Transcript: ENSMUST00000102484
SMART Domains Protein: ENSMUSP00000099542
Gene: ENSMUSG00000078515

DomainStartEndE-ValueType
Pfam:ubiquitin 10 79 3.1e-9 PFAM
low complexity region 177 189 N/A INTRINSIC
Pfam:Asp_protease 212 335 9.2e-65 PFAM
Pfam:RVP_2 219 348 3.7e-8 PFAM
Pfam:RVP 236 335 3.5e-8 PFAM
Pfam:Asp_protease_2 238 326 2.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105782
AA Change: V168A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101408
Gene: ENSMUSG00000040715
AA Change: V168A

DomainStartEndE-ValueType
low complexity region 315 320 N/A INTRINSIC
UBA 538 575 8.12e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177592
AA Change: V168A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000136018
Gene: ENSMUSG00000078515
AA Change: V168A

DomainStartEndE-ValueType
low complexity region 315 320 N/A INTRINSIC
UBA 538 575 8.12e-6 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this intronless gene inhibits the expression of the solute carrier family 5 (sodium/glucose cotransporter), member 1 gene (SLC5A1) and downregulates exocytosis of the SLC5A1 protein. The encoded protein is sometimes found coating the trans-Golgi network and other times is localized to the nucleus, depending on the cell cycle stage. This protein also inhibits the expression of solute carrier family 22 (organic cation transporter), member 2 (SLC22A2). [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous null mice develop obesity and exhibit increased serum cholesterol and leptin levels and increased absorption of D-glucose in the small intestine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,635,949 (GRCm39) probably benign Het
Aldh1a3 C A 7: 66,055,895 (GRCm39) V299F probably damaging Het
Ankar A G 1: 72,709,275 (GRCm39) Y747H probably damaging Het
Armc9 T C 1: 86,180,000 (GRCm39) I107T probably damaging Het
Atmin A T 8: 117,684,236 (GRCm39) D632V probably damaging Het
Atp5pd C A 11: 115,306,840 (GRCm39) probably null Het
Cadps2 T C 6: 23,838,895 (GRCm39) E81G probably damaging Het
Cep162 A G 9: 87,128,797 (GRCm39) V67A possibly damaging Het
Cfap100 C T 6: 90,389,217 (GRCm39) V335I probably benign Het
Dmtf1 A T 5: 9,180,381 (GRCm39) D181E probably benign Het
Efcab14 T A 4: 115,597,615 (GRCm39) I70N probably damaging Het
Frzb T C 2: 80,254,970 (GRCm39) T189A possibly damaging Het
Fstl3 G A 10: 79,614,506 (GRCm39) W69* probably null Het
Gjb3 C T 4: 127,219,815 (GRCm39) C239Y probably damaging Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Inpp5d A G 1: 87,629,205 (GRCm39) T397A possibly damaging Het
Myh11 G T 16: 14,027,384 (GRCm39) H1283Q probably benign Het
Naip6 A G 13: 100,420,256 (GRCm39) V1338A probably benign Het
Obscn A G 11: 58,890,846 (GRCm39) S7229P unknown Het
Or1l4b A T 2: 37,036,427 (GRCm39) I68F probably damaging Het
Pfkp G A 13: 6,650,708 (GRCm39) probably benign Het
Pop1 T A 15: 34,502,619 (GRCm39) I102K probably damaging Het
Ppp1r21 A G 17: 88,891,290 (GRCm39) M732V probably benign Het
Scd2 G A 19: 44,289,685 (GRCm39) V227I probably benign Het
Scn10a T A 9: 119,495,125 (GRCm39) Y372F probably damaging Het
Slc35c2 G T 2: 165,124,055 (GRCm39) T94K probably damaging Het
Slc41a2 A G 10: 83,119,728 (GRCm39) Y345H probably benign Het
Slc5a11 T C 7: 122,864,854 (GRCm39) S387P probably damaging Het
Smg7 T A 1: 152,721,145 (GRCm39) N727I probably benign Het
Steap2 A T 5: 5,723,474 (GRCm39) F469I probably benign Het
Tex2 T A 11: 106,459,058 (GRCm39) probably benign Het
Tmem79 A G 3: 88,240,270 (GRCm39) L226P probably damaging Het
Tnfrsf14 G T 4: 155,008,927 (GRCm39) C165* probably null Het
Trim21 A G 7: 102,208,870 (GRCm39) V283A probably benign Het
Vmn2r16 A T 5: 109,487,948 (GRCm39) M274L probably benign Het
Other mutations in Rsc1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02056:Rsc1a1 APN 4 141,412,796 (GRCm39) missense probably benign 0.02
IGL02674:Rsc1a1 APN 4 141,411,406 (GRCm39) missense probably damaging 1.00
IGL02690:Rsc1a1 APN 4 141,412,612 (GRCm39) missense probably damaging 1.00
IGL02712:Rsc1a1 APN 4 141,412,376 (GRCm39) missense probably benign 0.00
IGL02828:Rsc1a1 APN 4 141,411,479 (GRCm39) missense probably damaging 0.98
R0024:Rsc1a1 UTSW 4 141,412,583 (GRCm39) missense probably benign 0.05
Posted On 2015-04-16