Incidental Mutation 'IGL02674:Rsc1a1'
ID 303060
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 # IGL02674
Quality Score
Status
Chromosome 4
Chromosomal Location 141411162-141412910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 141411406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 502 (P502Q)
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 damaging
Transcript: ENSMUST00000105782
AA Change: P502Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101408
Gene: ENSMUSG00000040715
AA Change: P502Q

DomainStartEndE-ValueType
low complexity region 315 320 N/A INTRINSIC
UBA 538 575 8.12e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000177592
AA Change: P502Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136018
Gene: ENSMUSG00000078515
AA Change: P502Q

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 T C 15: 72,983,643 (GRCm39) R689G probably damaging Het
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Akna A T 4: 63,289,181 (GRCm39) C1247* probably null Het
Appl1 T G 14: 26,671,418 (GRCm39) T345P possibly damaging Het
Chga A G 12: 102,529,160 (GRCm39) D379G probably damaging Het
Chrna6 C T 8: 27,896,879 (GRCm39) A333T probably benign Het
Col14a1 G A 15: 55,282,178 (GRCm39) G813E unknown Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnhd1 A G 7: 105,370,688 (GRCm39) Q4656R probably benign Het
Dock9 A C 14: 121,833,023 (GRCm39) probably null Het
Fat4 A G 3: 39,037,486 (GRCm39) N3713D probably benign Het
Fsd1 A T 17: 56,303,483 (GRCm39) T452S probably benign Het
G6pc2 A G 2: 69,056,910 (GRCm39) probably null Het
Gfus T C 15: 75,798,238 (GRCm39) D178G probably damaging Het
Itprid1 A G 6: 55,874,913 (GRCm39) T288A probably benign Het
Kcnh4 C A 11: 100,637,720 (GRCm39) V646L possibly damaging Het
Kcnk1 T C 8: 126,751,753 (GRCm39) Y120H probably damaging Het
L3mbtl3 C T 10: 26,158,711 (GRCm39) E646K unknown Het
Lrrc4c T C 2: 97,460,120 (GRCm39) W249R probably damaging Het
Meox1 A T 11: 101,784,767 (GRCm39) L22H probably damaging Het
Mrgpra4 C T 7: 47,630,690 (GRCm39) V304M probably benign Het
Ncaph T C 2: 126,955,496 (GRCm39) Y554C probably damaging Het
Nfx1 T C 4: 40,999,717 (GRCm39) probably null Het
Or10p1 A C 10: 129,443,939 (GRCm39) M137R possibly damaging Het
Or8g37 A G 9: 39,730,934 (GRCm39) probably null Het
Otol1 C T 3: 69,926,077 (GRCm39) P84L probably benign Het
Pcdhb11 T C 18: 37,556,667 (GRCm39) S666P probably damaging Het
Pou2f3 T C 9: 43,050,628 (GRCm39) K244R probably damaging Het
Ppp6r1 T C 7: 4,649,812 (GRCm39) N51S probably damaging Het
Prdm4 A T 10: 85,729,263 (GRCm39) L715M probably damaging Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Senp1 T C 15: 97,954,840 (GRCm39) E448G probably damaging Het
Shd A G 17: 56,278,554 (GRCm39) D39G possibly damaging Het
Skint5 A C 4: 113,487,582 (GRCm39) probably benign Het
Tmprss15 T G 16: 78,798,682 (GRCm39) T667P possibly damaging Het
Vps13b A T 15: 35,640,104 (GRCm39) M1325L probably benign Het
Zfp263 T C 16: 3,564,629 (GRCm39) probably benign Het
Zfp786 A G 6: 47,797,427 (GRCm39) F504L probably benign Het
Other mutations in Rsc1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02056:Rsc1a1 APN 4 141,412,796 (GRCm39) missense probably benign 0.02
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 2015-04-16