Incidental Mutation 'R6852:Rpl8'
ID 535053
Institutional Source Beutler Lab
Gene Symbol Rpl8
Ensembl Gene ENSMUSG00000003970
Gene Name ribosomal protein L8
Synonyms
MMRRC Submission 045023-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R6852 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 76788278-76790514 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 76790149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 198 (R198L)
Ref Sequence ENSEMBL: ENSMUSP00000155657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004072] [ENSMUST00000048854] [ENSMUST00000068407] [ENSMUST00000109793] [ENSMUST00000229055] [ENSMUST00000229183] [ENSMUST00000230214]
AlphaFold P62918
Predicted Effect probably benign
Transcript: ENSMUST00000004072
AA Change: R198L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000004072
Gene: ENSMUSG00000003970
AA Change: R198L

DomainStartEndE-ValueType
Ribosomal_L2 11 90 5.53e-33 SMART
Ribosomal_L2_C 96 231 6.56e-67 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000048854
SMART Domains Protein: ENSMUSP00000041575
Gene: ENSMUSG00000054967

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
KRAB 17 77 7.05e-33 SMART
ZnF_C2H2 174 196 3.39e-3 SMART
ZnF_C2H2 202 224 1.2e-3 SMART
ZnF_C2H2 230 252 2.95e-3 SMART
ZnF_C2H2 258 280 4.79e-3 SMART
ZnF_C2H2 286 308 1.84e-4 SMART
ZnF_C2H2 314 336 6.32e-3 SMART
ZnF_C2H2 342 364 7.37e-4 SMART
ZnF_C2H2 370 392 1.6e-4 SMART
ZnF_C2H2 398 420 2.2e-2 SMART
ZnF_C2H2 426 448 6.78e-3 SMART
ZnF_C2H2 454 476 4.87e-4 SMART
ZnF_C2H2 482 504 2.24e-3 SMART
ZnF_C2H2 510 532 9.08e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000068407
SMART Domains Protein: ENSMUSP00000069159
Gene: ENSMUSG00000055041

DomainStartEndE-ValueType
Pfam:HCaRG 37 214 5.3e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109793
SMART Domains Protein: ENSMUSP00000105416
Gene: ENSMUSG00000055041

DomainStartEndE-ValueType
Pfam:HCaRG 39 213 2.6e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229055
Predicted Effect probably benign
Transcript: ENSMUST00000229183
AA Change: R198L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000230214
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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 60S subunit. The protein belongs to the L2P family of ribosomal proteins. It is located in the cytoplasm. In rat, the protein associates with the 5.8S rRNA, very likely participates in the binding of aminoacyl-tRNA, and is a constituent of the elongation factor 2-binding site at the ribosomal subunit interface. Alternatively spliced transcript variants encoding the same protein exist. 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]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,770,930 (GRCm39) Q40* probably null Het
1700034E13Rik T C 18: 52,796,705 (GRCm39) V81A probably damaging Het
A630089N07Rik A G 16: 97,866,855 (GRCm39) I369T probably benign Het
Aatk T A 11: 119,901,294 (GRCm39) Q977L probably benign Het
Abca4 A T 3: 121,928,844 (GRCm39) Q144H probably damaging Het
Ampd3 T C 7: 110,401,753 (GRCm39) F416L probably benign Het
Anks1b A G 10: 90,096,516 (GRCm39) E425G probably damaging Het
Atm A G 9: 53,393,730 (GRCm39) S1737P possibly damaging Het
Bsph1 T A 7: 13,204,255 (GRCm39) probably null Het
Cabyr C T 18: 12,887,154 (GRCm39) P262S probably benign Het
Cdc14a G A 3: 116,122,325 (GRCm39) P214L possibly damaging Het
Cep128 C A 12: 91,333,116 (GRCm39) probably null Het
Cfh T A 1: 140,075,487 (GRCm39) R250S probably damaging Het
Ddx39a T C 8: 84,449,646 (GRCm39) I417T probably benign Het
Dgka T A 10: 128,558,408 (GRCm39) K548M probably damaging Het
Efr3a G A 15: 65,701,679 (GRCm39) V198I probably benign Het
Elapor1 T C 3: 108,389,654 (GRCm39) E203G probably damaging Het
Epg5 C T 18: 78,056,106 (GRCm39) T1760I probably damaging Het
Fat1 T C 8: 45,488,635 (GRCm39) V3472A possibly damaging Het
Fbxo48 T A 11: 16,903,402 (GRCm39) N9K probably benign Het
Fcgbpl1 T A 7: 27,846,560 (GRCm39) I1084N probably damaging Het
Fer1l6 A T 15: 58,466,727 (GRCm39) H833L probably damaging Het
Foxn1 G T 11: 78,251,786 (GRCm39) Q482K probably benign Het
Fstl5 A G 3: 76,615,162 (GRCm39) D741G probably damaging Het
Gmip C T 8: 70,270,641 (GRCm39) Q55* probably null Het
H2-T5 T C 17: 36,478,965 (GRCm39) N95D possibly damaging Het
Hapln2 G A 3: 87,929,958 (GRCm39) T306M possibly damaging Het
Kat6a T A 8: 23,428,676 (GRCm39) S1344T probably benign Het
Kctd1 C T 18: 15,119,401 (GRCm39) D705N possibly damaging Het
Lhx9 ACC ACCC 1: 138,769,544 (GRCm39) probably null Het
Micall2 G T 5: 139,701,548 (GRCm39) A482D possibly damaging Het
Mindy3 T A 2: 12,424,063 (GRCm39) M1L possibly damaging Het
Mtdh A G 15: 34,136,867 (GRCm39) E352G probably damaging Het
Muc5ac G A 7: 141,370,644 (GRCm39) V3219I probably benign Het
Myh4 A G 11: 67,143,794 (GRCm39) probably null Het
Ncor1 A G 11: 62,234,071 (GRCm39) I377T probably damaging Het
Oog4 C A 4: 143,165,679 (GRCm39) C156F possibly damaging Het
Or5m9 A T 2: 85,876,948 (GRCm39) I41F probably benign Het
Pcyt1a T C 16: 32,288,938 (GRCm39) S260P probably damaging Het
Phf3 A T 1: 30,843,711 (GRCm39) F1749L probably damaging Het
Prickle2 T C 6: 92,353,525 (GRCm39) D647G probably benign Het
Raver2 T C 4: 100,990,787 (GRCm39) S387P probably benign Het
Relch T C 1: 105,681,320 (GRCm39) L1184P probably damaging Het
Rgs19 A G 2: 181,330,941 (GRCm39) S231P possibly damaging Het
Sacs T A 14: 61,416,737 (GRCm39) S77T possibly damaging Het
Samd14 G A 11: 94,912,280 (GRCm39) G219D probably damaging Het
Sec16a C T 2: 26,331,431 (GRCm39) V195M probably damaging Het
Sesn2 C T 4: 132,221,113 (GRCm39) V453I possibly damaging Het
Slc46a3 A T 5: 147,822,970 (GRCm39) C291S probably damaging Het
Smarcal1 A G 1: 72,630,332 (GRCm39) T129A possibly damaging Het
Sorl1 T A 9: 41,935,694 (GRCm39) R1041W possibly damaging Het
Sptlc3 T C 2: 139,408,506 (GRCm39) I207T probably benign Het
Srgap3 T C 6: 112,793,622 (GRCm39) D118G probably damaging Het
Tas2r117 T A 6: 132,779,892 (GRCm39) V10D probably benign Het
Tbcd A G 11: 121,500,206 (GRCm39) K1111E probably benign Het
Tor1aip1 A T 1: 155,911,566 (GRCm39) L139Q probably damaging Het
Trbv23 T C 6: 41,193,181 (GRCm39) V23A probably damaging Het
Ttll3 AAGTA AAGTATAGTA 6: 113,376,120 (GRCm39) probably null Het
Ttll3 GGCAAAG GGCAAAGCAAAG 6: 113,376,116 (GRCm39) probably null Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Vmn1r42 T G 6: 89,821,769 (GRCm39) T267P possibly damaging Het
Vmn2r53 C A 7: 12,340,441 (GRCm39) V11F probably damaging Het
Vmn2r67 T C 7: 84,801,361 (GRCm39) M192V probably damaging Het
Vmn2r78 T C 7: 86,603,811 (GRCm39) V663A probably damaging Het
Zdhhc1 C T 8: 106,203,704 (GRCm39) G156S possibly damaging Het
Zfp318 AGAAG AGAAGAGGAAG 17: 46,723,464 (GRCm39) probably benign Het
Zfp318 GAAGAA GAAGAAAAAGAA 17: 46,723,459 (GRCm39) probably benign Het
Zfp318 AAGAAG AAGAAGTAGAAG 17: 46,723,460 (GRCm39) probably benign Het
Zfp560 A G 9: 20,259,339 (GRCm39) C508R probably damaging Het
Zfp654 G A 16: 64,606,961 (GRCm39) L414F probably damaging Het
Zfp872 A T 9: 22,111,355 (GRCm39) Y278F probably damaging Het
Zscan20 T C 4: 128,483,515 (GRCm39) S385G probably damaging Het
Other mutations in Rpl8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Rpl8 APN 15 76,789,242 (GRCm39) unclassified probably benign
R0398:Rpl8 UTSW 15 76,789,246 (GRCm39) unclassified probably benign
R1505:Rpl8 UTSW 15 76,788,610 (GRCm39) missense possibly damaging 0.94
Z1177:Rpl8 UTSW 15 76,788,597 (GRCm39) missense possibly damaging 0.48
Predicted Primers PCR Primer
(F):5'- CAAAGTGTCAGTTTGCAGAGGG -3'
(R):5'- TCCAAAGGGATGCTCCACAG -3'

Sequencing Primer
(F):5'- CCTAGGTAGAGCTTGCTGGAC -3'
(R):5'- TGCTCCACAGGCTAAAAAGAG -3'
Posted On 2018-09-12