Incidental Mutation 'IGL02056:Rsc1a1'
ID 185234
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 # IGL02056
Quality Score
Status
Chromosome 4
Chromosomal Location 141411162-141412910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 141412796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 39 (I39F)
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: I39F

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000101408
Gene: ENSMUSG00000040715
AA Change: I39F

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: I39F

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000136018
Gene: ENSMUSG00000078515
AA Change: I39F

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg101 T C 15: 101,188,218 (GRCm39) S108P probably damaging Het
BB014433 A T 8: 15,092,435 (GRCm39) C139* probably null Het
Cacna1s A G 1: 136,046,738 (GRCm39) N1808S probably benign Het
Ccdc148 A G 2: 58,894,081 (GRCm39) probably benign Het
Dnah7a T G 1: 53,543,501 (GRCm39) N2223T probably benign Het
Fgl2 T A 5: 21,580,543 (GRCm39) I295K probably damaging Het
Foxj3 T C 4: 119,442,954 (GRCm39) I126T probably damaging Het
Gm4540 T A 3: 105,942,056 (GRCm39) probably benign Het
Hps5 T G 7: 46,437,606 (GRCm39) K156N probably damaging Het
Hsp90aa1 T C 12: 110,660,449 (GRCm39) probably benign Het
Il12rb1 C T 8: 71,263,831 (GRCm39) R131* probably null Het
Itgb2l T C 16: 96,228,889 (GRCm39) E438G probably damaging Het
Kplce T A 3: 92,776,200 (GRCm39) Q161L probably benign Het
Nbeal2 A T 9: 110,456,392 (GRCm39) L2379Q probably benign Het
Neurl4 T C 11: 69,796,616 (GRCm39) V481A probably damaging Het
Nos1ap A G 1: 170,146,192 (GRCm39) F454S possibly damaging Het
Pik3r5 G T 11: 68,381,681 (GRCm39) G242C possibly damaging Het
Pkd1l3 A G 8: 110,358,010 (GRCm39) N834S probably benign Het
Prkar2b A G 12: 32,025,909 (GRCm39) probably benign Het
Pusl1 T C 4: 155,975,029 (GRCm39) T191A probably benign Het
Rasal2 A G 1: 157,126,831 (GRCm39) V51A probably damaging Het
Slc2a3 G A 6: 122,712,437 (GRCm39) P269L probably damaging Het
Sntb1 C T 15: 55,511,435 (GRCm39) G383D possibly damaging Het
Washc5 T C 15: 59,222,185 (GRCm39) T547A possibly damaging Het
Zfr T C 15: 12,154,533 (GRCm39) V572A probably damaging Het
Zmym6 T A 4: 126,997,207 (GRCm39) N275K probably damaging Het
Other mutations in Rsc1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R0024:Rsc1a1 UTSW 4 141,412,583 (GRCm39) missense probably benign 0.05
Posted On 2014-05-07