Incidental Mutation 'R8110:Rps18'
ID 630838
Institutional Source Beutler Lab
Gene Symbol Rps18
Ensembl Gene ENSMUSG00000008668
Gene Name ribosomal protein S18
Synonyms H-2Ke3, H2-Ke3
MMRRC Submission 067539-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8110 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 34170972-34174639 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34174110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 15 (V15A)
Ref Sequence ENSEMBL: ENSMUSP00000008812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008812] [ENSMUST00000025178] [ENSMUST00000087543] [ENSMUST00000173196] [ENSMUST00000174609]
AlphaFold P62270
Predicted Effect probably benign
Transcript: ENSMUST00000008812
AA Change: V15A

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000008812
Gene: ENSMUSG00000008668
AA Change: V15A

DomainStartEndE-ValueType
Pfam:Ribosomal_S13 14 142 2.2e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025178
SMART Domains Protein: ENSMUSP00000025178
Gene: ENSMUSG00000024319

DomainStartEndE-ValueType
low complexity region 1 11 N/A INTRINSIC
low complexity region 24 45 N/A INTRINSIC
Pfam:Sec3_C 79 244 4.6e-13 PFAM
Pfam:Vps52 94 601 5.1e-233 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000087543
SMART Domains Protein: ENSMUSP00000084823
Gene: ENSMUSG00000067370

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
Pfam:Galactosyl_T 85 302 1.3e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173196
SMART Domains Protein: ENSMUSP00000133926
Gene: ENSMUSG00000024319

DomainStartEndE-ValueType
low complexity region 18 39 N/A INTRINSIC
Pfam:Vps52 88 120 2.7e-6 PFAM
Pfam:Vps52 116 527 3e-181 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174609
AA Change: V15A

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000138296
Gene: ENSMUSG00000008668
AA Change: V15A

DomainStartEndE-ValueType
Pfam:Ribosomal_S13 14 107 2.1e-21 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 93.1%
Validation Efficiency 99% (73/74)
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 S13P family of ribosomal proteins. It is located in the cytoplasm. The gene product of the E. coli ortholog (ribosomal protein S13) is involved in the binding of fMet-tRNA, and thus, in the initiation of translation. This gene is an ortholog of mouse Ke3. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd45 T C 1: 160,978,889 (GRCm39) probably null Het
Appl1 C A 14: 26,649,751 (GRCm39) G592* probably null Het
Arfgef2 T A 2: 166,720,464 (GRCm39) M1501K probably benign Het
Calcrl C T 2: 84,169,683 (GRCm39) A333T probably damaging Het
Cd200r3 T A 16: 44,771,835 (GRCm39) I33N probably benign Het
Ceacam15 A G 7: 16,407,334 (GRCm39) L61P probably benign Het
Cfap69 T A 5: 5,632,515 (GRCm39) H827L possibly damaging Het
Csmd3 T A 15: 47,507,666 (GRCm39) E2780V probably damaging Het
Cyp2u1 G A 3: 131,087,303 (GRCm39) T426I probably damaging Het
Eefsec A C 6: 88,353,312 (GRCm39) I119S probably damaging Het
Fem1b T C 9: 62,703,550 (GRCm39) N570S probably damaging Het
Fmo9 A G 1: 166,491,095 (GRCm39) M461T probably benign Het
Fryl A G 5: 73,290,620 (GRCm39) Y95H probably benign Het
Fsip2 T C 2: 82,789,017 (GRCm39) I346T probably benign Het
Fto T C 8: 92,211,818 (GRCm39) F381S probably damaging Het
Gabbr1 G C 17: 37,359,475 (GRCm39) S150T probably benign Het
Galnt9 G T 5: 110,763,339 (GRCm39) W448L probably damaging Het
Gcnt2 G T 13: 41,071,198 (GRCm39) probably benign Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gmcl1 G T 6: 86,698,408 (GRCm39) A163E probably damaging Het
Hectd4 A G 5: 121,471,012 (GRCm39) Y2633C possibly damaging Het
Hsd11b2 A G 8: 106,249,266 (GRCm39) I214V probably damaging Het
Hspa12a T A 19: 58,809,445 (GRCm39) E217V possibly damaging Het
Itih2 A G 2: 10,101,948 (GRCm39) F845L probably damaging Het
Kcnn3 T A 3: 89,568,540 (GRCm39) L606H probably damaging Het
Krt6b G A 15: 101,588,577 (GRCm39) R28C probably damaging Het
Lama2 T A 10: 26,866,866 (GRCm39) D2876V probably damaging Het
Lmbrd2 T C 15: 9,175,279 (GRCm39) S397P probably damaging Het
Lmf2 C T 15: 89,236,561 (GRCm39) probably null Het
Lrp2 A G 2: 69,336,797 (GRCm39) I1325T probably benign Het
Ltbp2 A T 12: 84,850,676 (GRCm39) C879* probably null Het
Map3k1 A G 13: 111,891,847 (GRCm39) V1136A probably damaging Het
Mettl3 G T 14: 52,537,709 (GRCm39) H84N probably benign Het
Mia2 A G 12: 59,155,873 (GRCm39) probably null Het
Mlip G T 9: 77,146,861 (GRCm39) T92K probably damaging Het
Nalcn T A 14: 123,702,113 (GRCm39) Y466F probably benign Het
Nav2 T A 7: 49,201,698 (GRCm39) L235* probably null Het
Nbn T C 4: 15,981,588 (GRCm39) V560A probably benign Het
Ncln A T 10: 81,328,987 (GRCm39) Y144N possibly damaging Het
Nfe2l2 A C 2: 75,509,765 (GRCm39) D18E probably benign Het
Or10aa3 G A 1: 173,878,091 (GRCm39) A51T probably benign Het
Or12d2 A G 17: 37,624,604 (GRCm39) F224L probably benign Het
Or1ak2 T C 2: 36,827,721 (GRCm39) C197R possibly damaging Het
Or5w11 T C 2: 87,458,951 (GRCm39) I48T possibly damaging Het
Otop3 A T 11: 115,230,221 (GRCm39) M33L probably benign Het
Pate7 T C 9: 35,689,329 (GRCm39) *84W probably null Het
Pdzd2 G A 15: 12,373,592 (GRCm39) S2181L probably benign Het
Phf14 T C 6: 11,953,422 (GRCm39) I387T possibly damaging Het
Prb1c C T 6: 132,338,531 (GRCm39) G229D unknown Het
Prdm9 T A 17: 15,774,960 (GRCm39) N318Y probably damaging Het
Proca1 A G 11: 78,095,737 (GRCm39) D123G probably damaging Het
Prune2 G A 19: 17,098,083 (GRCm39) G1196S probably benign Het
Psd3 T A 8: 68,573,708 (GRCm39) S158C probably damaging Het
Sanbr G T 11: 23,526,764 (GRCm39) T696N probably benign Het
Sharpin C A 15: 76,231,965 (GRCm39) R271L possibly damaging Het
Smad5 C A 13: 56,871,701 (GRCm39) Q99K probably damaging Het
Sox5 T C 6: 144,062,200 (GRCm39) M151V possibly damaging Het
Sphkap A T 1: 83,256,492 (GRCm39) F419Y possibly damaging Het
Tbx20 T A 9: 24,636,821 (GRCm39) Y422F probably damaging Het
Tcirg1 A C 19: 3,949,099 (GRCm39) F397V probably damaging Het
Tex36 G A 7: 133,197,012 (GRCm39) S35F possibly damaging Het
Tsen54 G T 11: 115,705,760 (GRCm39) A26S unknown Het
Usp50 T A 2: 126,622,250 (GRCm39) probably null Het
Vmn2r5 A T 3: 64,398,709 (GRCm39) F757I probably benign Het
Zbbx T C 3: 75,062,749 (GRCm39) T3A possibly damaging Het
Zfp28 T A 7: 6,392,828 (GRCm39) M168K probably benign Het
Zfp568 G T 7: 29,722,551 (GRCm39) G499W probably damaging Het
Zfp7 C G 15: 76,775,131 (GRCm39) P391R possibly damaging Het
Other mutations in Rps18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02216:Rps18 APN 17 34,171,015 (GRCm39) utr 3 prime probably benign
R1658:Rps18 UTSW 17 34,171,392 (GRCm39) missense probably benign 0.03
R3622:Rps18 UTSW 17 34,171,247 (GRCm39) splice site probably null
R5008:Rps18 UTSW 17 34,171,258 (GRCm39) splice site probably null
R6220:Rps18 UTSW 17 34,174,110 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AGCTGAAGATCTCGGGAAAC -3'
(R):5'- TCAGAGGTTGCGATTTCCCG -3'

Sequencing Primer
(F):5'- CTCTGCAAGGTGGGACATGACTAC -3'
(R):5'- ATTTCCCGCGCCTGAGC -3'
Posted On 2020-06-30