Incidental Mutation 'R1013:Mrpl11'
ID 95932
Institutional Source Beutler Lab
Gene Symbol Mrpl11
Ensembl Gene ENSMUSG00000024902
Gene Name mitochondrial ribosomal protein L11
Synonyms 2410001P07Rik
MMRRC Submission 039117-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.909) question?
Stock # R1013 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 5012180-5017023 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5013651 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 144 (I144T)
Ref Sequence ENSEMBL: ENSMUSP00000025836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025836]
AlphaFold Q9CQF0
Predicted Effect possibly damaging
Transcript: ENSMUST00000025836
AA Change: I144T

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025836
Gene: ENSMUSG00000024902
AA Change: I144T

DomainStartEndE-ValueType
RL11 20 156 7e-66 SMART
low complexity region 175 191 N/A INTRINSIC
Meta Mutation Damage Score 0.8899 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.4%
Validation Efficiency 98% (39/40)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This nuclear gene encodes a 39S subunit component of the mitochondial ribosome. Alternative splicing results in multiple transcript variants. Pseudogenes for this gene are found on chromosomes 5 and 12. [provided by RefSeq, May 2014]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik C T 1: 183,765,702 (GRCm39) S119N probably benign Het
4930527J03Rik ACCC ACC 1: 178,276,503 (GRCm38) noncoding transcript Het
Bclaf1 T A 10: 20,207,822 (GRCm39) probably benign Het
Bicdl2 A G 17: 23,884,377 (GRCm39) probably benign Het
C8a T C 4: 104,685,236 (GRCm39) I336V probably benign Het
Calcr A T 6: 3,692,621 (GRCm39) V374D probably damaging Het
Col28a1 A G 6: 7,999,452 (GRCm39) probably benign Het
Cuedc1 C T 11: 88,078,853 (GRCm39) A327V possibly damaging Het
Cul2 C A 18: 3,425,535 (GRCm39) Y378* probably null Het
Dnaaf10 A G 11: 17,178,183 (GRCm39) K226E probably damaging Het
Flt4 C T 11: 49,527,166 (GRCm39) probably benign Het
Gm8369 TG TGNG 19: 11,489,147 (GRCm39) probably null Het
Hivep1 A G 13: 42,310,438 (GRCm39) R893G probably damaging Het
Il10rb A G 16: 91,211,581 (GRCm39) N140D probably benign Het
Itga4 A G 2: 79,150,847 (GRCm39) M818V probably benign Het
Kyat3 T C 3: 142,432,007 (GRCm39) I245T probably damaging Het
Lck C T 4: 129,451,920 (GRCm39) C20Y probably damaging Het
Mcm6 T G 1: 128,276,778 (GRCm39) S271R probably benign Het
Megf10 A G 18: 57,394,291 (GRCm39) I472V probably benign Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Or2t26 G A 11: 49,039,977 (GRCm39) V298M probably damaging Het
Or8k25 G A 2: 86,244,319 (GRCm39) P26S possibly damaging Het
Pcdhb17 A G 18: 37,619,020 (GRCm39) D270G probably damaging Het
Plg G A 17: 12,597,608 (GRCm39) probably benign Het
Ppp3cb T A 14: 20,574,072 (GRCm39) E255D probably benign Het
Psenen A G 7: 30,261,802 (GRCm39) F38S possibly damaging Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Sorl1 T C 9: 41,913,855 (GRCm39) N1358S probably benign Het
Trim3 G A 7: 105,267,102 (GRCm39) P426S probably benign Het
Ttc28 T C 5: 111,424,831 (GRCm39) M1552T probably benign Het
Unc13c T C 9: 73,840,614 (GRCm39) D79G probably benign Het
Zcchc14 A G 8: 122,333,664 (GRCm39) probably benign Het
Zfp354a T C 11: 50,951,677 (GRCm39) probably benign Het
Zfp729a T C 13: 67,767,626 (GRCm39) I868V probably benign Het
Other mutations in Mrpl11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01386:Mrpl11 APN 19 5,013,409 (GRCm39) missense probably null 1.00
IGL01538:Mrpl11 APN 19 5,013,449 (GRCm39) critical splice donor site probably null
IGL02001:Mrpl11 APN 19 5,013,680 (GRCm39) nonsense probably null
R2155:Mrpl11 UTSW 19 5,012,497 (GRCm39) missense probably damaging 1.00
R2156:Mrpl11 UTSW 19 5,012,497 (GRCm39) missense probably damaging 1.00
R6061:Mrpl11 UTSW 19 5,013,397 (GRCm39) missense possibly damaging 0.92
R6209:Mrpl11 UTSW 19 5,014,743 (GRCm39) missense probably damaging 0.96
R7672:Mrpl11 UTSW 19 5,012,424 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGCAGCCCACTGTTTCTTAC -3'
(R):5'- GTCCAGGACAGAACAGGTGCTTATG -3'

Sequencing Primer
(F):5'- GGCACCTGAGAGTCTGATG -3'
(R):5'- ATCCTTCTGCTAGAATCTGCTAGAC -3'
Posted On 2014-01-05