Incidental Mutation 'IGL02285:Rps15'
ID 289968
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rps15
Ensembl Gene ENSMUSG00000063457
Gene Name ribosomal protein S15
Synonyms rat insulinoma gene, rig, insulinoma
Accession Numbers
Essential gene? Probably essential (E-score: 0.915) question?
Stock # IGL02285
Quality Score
Status
Chromosome 10
Chromosomal Location 80128287-80129948 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 80129596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 43 (M43I)
Ref Sequence ENSEMBL: ENSMUSP00000100997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062674] [ENSMUST00000068408] [ENSMUST00000105359]
AlphaFold P62843
Predicted Effect probably benign
Transcript: ENSMUST00000062674
AA Change: M43I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000100997
Gene: ENSMUSG00000063457
AA Change: M43I

DomainStartEndE-ValueType
Pfam:Ribosomal_S19 20 101 5e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000068408
AA Change: M70I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000069004
Gene: ENSMUSG00000063457
AA Change: M70I

DomainStartEndE-ValueType
low complexity region 7 16 N/A INTRINSIC
Pfam:Ribosomal_S19 47 128 1.6e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105359
SMART Domains Protein: ENSMUSP00000100996
Gene: ENSMUSG00000020135

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:APC_N_CC 30 81 2.7e-34 PFAM
Pfam:Suppressor_APC 148 228 1.4e-27 PFAM
coiled coil region 238 260 N/A INTRINSIC
low complexity region 266 285 N/A INTRINSIC
ARM 324 379 2.95e0 SMART
ARM 446 497 2.22e-2 SMART
ARM 499 540 3.22e0 SMART
ARM 542 584 3.56e-1 SMART
ARM 586 631 2.1e1 SMART
ARM 636 676 1.82e-7 SMART
Blast:ARM 678 718 6e-18 BLAST
Pfam:Arm_APC_u3 719 977 1.1e-26 PFAM
low complexity region 1000 1009 N/A INTRINSIC
low complexity region 1086 1098 N/A INTRINSIC
low complexity region 1116 1132 N/A INTRINSIC
Pfam:APC_crr 1164 1187 9.3e-8 PFAM
low complexity region 1226 1237 N/A INTRINSIC
Pfam:APC_crr 1274 1297 7.9e-10 PFAM
Pfam:APC_crr 1399 1423 1.3e-9 PFAM
low complexity region 1529 1545 N/A INTRINSIC
low complexity region 1585 1603 N/A INTRINSIC
Pfam:SAMP 1624 1642 1.3e-11 PFAM
low complexity region 1702 1728 N/A INTRINSIC
Pfam:APC_basic 1786 2122 1.3e-122 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19P family of ribosomal proteins. It is located in the cytoplasm. This gene has been found to be activated in various tumors, such as insulinomas, esophageal cancers, and colon cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 A G 4: 126,244,670 (GRCm39) V672A possibly damaging Het
Arhgef28 A T 13: 98,187,536 (GRCm39) V253D possibly damaging Het
Atg3 G A 16: 44,998,680 (GRCm39) probably benign Het
Camsap1 T C 2: 25,819,814 (GRCm39) D1557G probably damaging Het
Cdh20 A G 1: 110,065,921 (GRCm39) T732A probably damaging Het
Cert1 A G 13: 96,752,990 (GRCm39) H348R probably benign Het
Cyp3a13 T A 5: 137,908,229 (GRCm39) I207F probably benign Het
Dock1 T G 7: 134,683,649 (GRCm39) probably null Het
Drc7 A T 8: 95,797,861 (GRCm39) probably benign Het
Drosha C A 15: 12,833,950 (GRCm39) P18H unknown Het
Fbxl5 A G 5: 43,922,690 (GRCm39) S243P possibly damaging Het
Filip1 A G 9: 79,727,408 (GRCm39) C404R probably damaging Het
Gm5745 G A 9: 73,082,780 (GRCm39) noncoding transcript Het
Gm7808 T G 9: 19,839,347 (GRCm39) probably benign Het
Gpi-ps C T 8: 5,690,373 (GRCm39) noncoding transcript Het
Hcn3 T C 3: 89,060,119 (GRCm39) D175G probably damaging Het
Igkv1-117 A T 6: 68,098,519 (GRCm39) M23L probably benign Het
Kif26a A G 12: 112,123,941 (GRCm39) D182G probably damaging Het
Lmbr1 A G 5: 29,459,233 (GRCm39) probably benign Het
Lypd4 T A 7: 24,564,865 (GRCm39) Q91L probably damaging Het
Ncoa5 C T 2: 164,844,760 (GRCm39) A37T probably damaging Het
Or52ad1 G A 7: 102,995,245 (GRCm39) R297* probably null Het
Or56b1 A G 7: 104,284,932 (GRCm39) E17G probably benign Het
Or7g17 T A 9: 18,768,286 (GRCm39) C122S possibly damaging Het
Ppp1r18 A G 17: 36,178,148 (GRCm39) K8E probably damaging Het
Ppp3ca A G 3: 136,634,387 (GRCm39) probably benign Het
Ptpn12 T A 5: 21,260,711 (GRCm39) Q12L probably benign Het
Rpgrip1l A G 8: 91,959,535 (GRCm39) F1122L possibly damaging Het
Rrp15 T C 1: 186,453,592 (GRCm39) probably benign Het
Sash1 A T 10: 8,616,098 (GRCm39) M588K probably damaging Het
Slc12a7 A G 13: 73,943,714 (GRCm39) probably benign Het
Slc25a13 A G 6: 6,042,643 (GRCm39) V587A possibly damaging Het
Sugct T C 13: 17,847,181 (GRCm39) D34G possibly damaging Het
Tdpoz2 T A 3: 93,559,598 (GRCm39) I125F probably damaging Het
Trim52 T A 14: 106,344,702 (GRCm39) L120Q probably damaging Het
Vmn1r85 T C 7: 12,818,711 (GRCm39) I144M probably damaging Het
Vmn2r107 T C 17: 20,595,823 (GRCm39) F792S probably damaging Het
Vsnl1 A G 12: 11,436,878 (GRCm39) F34L probably damaging Het
Other mutations in Rps15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01567:Rps15 APN 10 80,129,643 (GRCm39) missense probably benign 0.02
R3938:Rps15 UTSW 10 80,129,673 (GRCm39) missense probably benign 0.28
R6382:Rps15 UTSW 10 80,129,820 (GRCm39) missense probably damaging 0.96
R6995:Rps15 UTSW 10 80,129,598 (GRCm39) missense possibly damaging 0.47
R8416:Rps15 UTSW 10 80,128,624 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16