Incidental Mutation 'R8186:Rpl11'
ID 634857
Institutional Source Beutler Lab
Gene Symbol Rpl11
Ensembl Gene ENSMUSG00000059291
Gene Name ribosomal protein L11
Synonyms 2010203J19Rik
MMRRC Submission 067609-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R8186 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 135776665-135780704 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135778968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 74 (V74A)
Ref Sequence ENSEMBL: ENSMUSP00000099595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102536] [ENSMUST00000155873]
AlphaFold Q9CXW4
Predicted Effect possibly damaging
Transcript: ENSMUST00000102536
AA Change: V74A

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099595
Gene: ENSMUSG00000059291
AA Change: V74A

DomainStartEndE-ValueType
Pfam:Ribosomal_L5 10 63 6.9e-23 PFAM
Pfam:Ribosomal_L5_C 67 166 9.5e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000155873
AA Change: V77A

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121108
Gene: ENSMUSG00000059291
AA Change: V77A

DomainStartEndE-ValueType
Pfam:Ribosomal_L5 13 66 8e-23 PFAM
Pfam:Ribosomal_L5_C 70 169 1.1e-26 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (43/43)
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 L5P family of ribosomal proteins. It is located in the cytoplasm. The protein probably associates with the 5S rRNA. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 G A 6: 86,085,002 (GRCm39) V543M probably benign Het
Agl A G 3: 116,552,557 (GRCm39) I459T possibly damaging Het
Arhgap45 G A 10: 79,863,706 (GRCm39) A819T probably damaging Het
Atg16l2 C T 7: 100,945,714 (GRCm39) probably null Het
Bltp2 A G 11: 78,177,457 (GRCm39) T1921A probably damaging Het
C130073F10Rik G A 4: 101,748,031 (GRCm39) R48* probably null Het
Cdc25b C T 2: 131,031,050 (GRCm39) T125M probably benign Het
Cdc42bpg T A 19: 6,356,895 (GRCm39) F50L probably damaging Het
Chd9 T A 8: 91,725,233 (GRCm39) D1187E unknown Het
Col4a2 T C 8: 11,475,542 (GRCm39) probably null Het
Cped1 T C 6: 22,123,587 (GRCm39) S447P probably benign Het
Ddx19a T A 8: 111,710,274 (GRCm39) M109L probably benign Het
Def8 C A 8: 124,188,215 (GRCm39) Y431* probably null Het
Gata4 A G 14: 63,438,962 (GRCm39) S373P probably benign Het
Gm9837 A T 11: 53,361,136 (GRCm39) L26* probably null Het
Hspa1b A T 17: 35,176,557 (GRCm39) V476E probably damaging Het
Htr5b G A 1: 121,456,108 (GRCm39) probably benign Het
Hydin T C 8: 111,336,277 (GRCm39) V5018A probably benign Het
Ighv1-85 A G 12: 115,963,923 (GRCm39) S26P probably benign Het
Kics2 T A 10: 121,581,247 (GRCm39) F83I possibly damaging Het
Lrrc2 A G 9: 110,789,910 (GRCm39) K56E possibly damaging Het
Macf1 A T 4: 123,266,219 (GRCm39) I6793N probably damaging Het
Macf1 A C 4: 123,275,923 (GRCm39) V6215G possibly damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nfxl1 A G 5: 72,716,355 (GRCm39) probably null Het
Odad4 A G 11: 100,454,505 (GRCm39) D430G probably benign Het
Oprk1 A T 1: 5,672,540 (GRCm39) M226L probably benign Het
Or1e1 T C 11: 73,245,247 (GRCm39) S223P possibly damaging Het
Phf2 A G 13: 48,961,227 (GRCm39) L821P unknown Het
Rdh7 C A 10: 127,723,284 (GRCm39) probably null Het
Safb2 G A 17: 56,873,051 (GRCm39) R790C possibly damaging Het
Sgpp2 T C 1: 78,393,609 (GRCm39) F204S probably benign Het
Sgsm3 A C 15: 80,893,643 (GRCm39) I426L possibly damaging Het
Speer1b A G 5: 11,823,926 (GRCm39) D158G probably damaging Het
Styxl2 A G 1: 165,927,648 (GRCm39) S655P probably damaging Het
Tbccd1 A G 16: 22,637,189 (GRCm39) L545P probably damaging Het
Toporsl T A 4: 52,610,489 (GRCm39) F127L probably damaging Het
Ttn T G 2: 76,749,256 (GRCm39) Q3931P probably damaging Het
Tuba1c C A 15: 98,935,396 (GRCm39) L286I probably benign Het
Usp48 A G 4: 137,348,507 (GRCm39) R528G possibly damaging Het
Utrn T C 10: 12,573,867 (GRCm39) T1068A probably benign Het
Vmn2r103 A T 17: 20,032,205 (GRCm39) T660S probably damaging Het
Vmn2r105 G T 17: 20,444,880 (GRCm39) Y537* probably null Het
Vmn2r88 A T 14: 51,656,157 (GRCm39) I744F Het
Wnt9b T C 11: 103,621,601 (GRCm39) E352G probably damaging Het
Zfp78 A G 7: 6,376,228 (GRCm39) N46D probably damaging Het
Other mutations in Rpl11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4373:Rpl11 UTSW 4 135,778,454 (GRCm39) intron probably benign
R4374:Rpl11 UTSW 4 135,778,454 (GRCm39) intron probably benign
R4375:Rpl11 UTSW 4 135,778,454 (GRCm39) intron probably benign
R4377:Rpl11 UTSW 4 135,778,454 (GRCm39) intron probably benign
R4560:Rpl11 UTSW 4 135,778,522 (GRCm39) missense probably damaging 1.00
R4781:Rpl11 UTSW 4 135,777,599 (GRCm39) missense probably benign 0.00
R5541:Rpl11 UTSW 4 135,780,043 (GRCm39) splice site probably benign
R9087:Rpl11 UTSW 4 135,780,000 (GRCm39) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- TCATGCCCCAGCTACAAATG -3'
(R):5'- ACTATGGCCATGCTGTTTGAG -3'

Sequencing Primer
(F):5'- GATCCCCACTTCCAAAGAGCAGAG -3'
(R):5'- CTGGGTAAATTAGAGATGGAAAGCTC -3'
Posted On 2020-07-13