Incidental Mutation 'R0024:Rsc1a1'
ID 15170
Institutional Source Beutler Lab
Gene Symbol Rsc1a1
Ensembl Gene ENSMUSG00000040715
Gene Name regulatory solute carrier protein, family 1, member 1
Synonyms OTTMUSG00000010365, mRS1, RS1
MMRRC Submission 038319-MU
Accession Numbers
Essential gene? Not available question?
Stock # R0024 (G1)
Quality Score
Status Validated
Chromosome 4
Chromosomal Location 141411162-141412910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 141412583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 110 (K110E)
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: K110E

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000101408
Gene: ENSMUSG00000040715
AA Change: K110E

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: K110E

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000136018
Gene: ENSMUSG00000078515
AA Change: K110E

DomainStartEndE-ValueType
low complexity region 315 320 N/A INTRINSIC
UBA 538 575 8.12e-6 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 79.2%
  • 3x: 69.7%
  • 10x: 44.0%
  • 20x: 23.5%
Validation Efficiency 95% (75/79)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T C 8: 84,454,913 (GRCm39) T260A probably damaging Het
Ahctf1 G A 1: 179,580,001 (GRCm39) T2067M probably damaging Het
Akip1 T C 7: 109,303,345 (GRCm39) S63P probably benign Het
Ankrd34c G A 9: 89,611,580 (GRCm39) P254S possibly damaging Het
Aqp8 T C 7: 123,066,663 (GRCm39) I256T probably benign Het
Arnt2 A G 7: 83,933,334 (GRCm39) V308A probably benign Het
Astn1 G A 1: 158,511,785 (GRCm39) S1209N probably damaging Het
Atf7ip T C 6: 136,576,818 (GRCm39) probably benign Het
Bbx T A 16: 50,045,281 (GRCm39) M427L probably benign Het
Cadm4 T C 7: 24,202,169 (GRCm39) L336P probably benign Het
Camk2d A G 3: 126,591,372 (GRCm39) M281V probably benign Het
Dennd2b T C 7: 109,123,866 (GRCm39) H1131R probably damaging Het
Dll3 A G 7: 27,999,586 (GRCm39) probably benign Het
Dscam G A 16: 96,394,585 (GRCm39) R1906* probably null Het
Dst C T 1: 34,228,200 (GRCm39) P1606L probably damaging Het
Eif2ak3 A G 6: 70,869,340 (GRCm39) T676A probably benign Het
Entpd5 T C 12: 84,420,507 (GRCm39) M428T probably benign Het
Fry T G 5: 150,304,268 (GRCm39) S553A probably benign Het
Gls2 G A 10: 128,035,125 (GRCm39) R86H probably damaging Het
Gm14340 T A 2: 180,466,043 (GRCm39) noncoding transcript Het
Gm9457 A C 8: 4,863,131 (GRCm39) noncoding transcript Het
Hfm1 T C 5: 107,004,790 (GRCm39) K1179E probably benign Het
Iqgap1 T C 7: 80,401,687 (GRCm39) T473A probably benign Het
Krt34 A T 11: 99,931,863 (GRCm39) C119S probably benign Het
Krt6a A G 15: 101,599,150 (GRCm39) probably benign Het
Lysmd4 A G 7: 66,875,828 (GRCm39) T164A probably benign Het
Mroh2b T A 15: 4,955,109 (GRCm39) Y701N probably damaging Het
Pi4ka T C 16: 17,133,399 (GRCm39) probably benign Het
Plcb1 A G 2: 135,204,345 (GRCm39) S900G probably benign Het
Plxna2 T A 1: 194,326,303 (GRCm39) I79N possibly damaging Het
Prpf31 C A 7: 3,639,658 (GRCm39) probably null Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Sin3a T A 9: 57,025,537 (GRCm39) probably benign Het
Slc24a2 T C 4: 86,946,477 (GRCm39) probably benign Het
Slc6a3 A T 13: 73,688,956 (GRCm39) probably benign Het
Sugct G A 13: 17,032,454 (GRCm39) H433Y probably benign Het
Sycp2l A G 13: 41,295,264 (GRCm39) I310M probably damaging Het
Tpm3 C A 3: 89,994,756 (GRCm39) probably null Het
Ttc27 T C 17: 75,077,259 (GRCm39) F385L possibly damaging Het
Utrn A G 10: 12,281,755 (GRCm39) V3301A 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
IGL02680:Rsc1a1 APN 4 141,412,408 (GRCm39) missense probably benign 0.00
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
Posted On 2012-12-12