Incidental Mutation 'IGL02001:Mrpl11'
ID 183037
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl11
Ensembl Gene ENSMUSG00000024902
Gene Name mitochondrial ribosomal protein L11
Synonyms 2410001P07Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.909) question?
Stock # IGL02001
Quality Score
Status
Chromosome 19
Chromosomal Location 5012180-5017023 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 5013680 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 154 (R154*)
Ref Sequence ENSEMBL: ENSMUSP00000025836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025836]
AlphaFold Q9CQF0
Predicted Effect probably null
Transcript: ENSMUST00000025836
AA Change: R154*
SMART Domains Protein: ENSMUSP00000025836
Gene: ENSMUSG00000024902
AA Change: R154*

DomainStartEndE-ValueType
RL11 20 156 7e-66 SMART
low complexity region 175 191 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik T C 17: 48,473,842 (GRCm39) N25S possibly damaging Het
Als2 A T 1: 59,219,347 (GRCm39) probably benign Het
Asah2 T A 19: 32,020,939 (GRCm39) K255* probably null Het
Bclaf1 A G 10: 20,198,762 (GRCm39) probably benign Het
Bpifb2 T C 2: 153,733,195 (GRCm39) probably benign Het
Cacna2d2 G A 9: 107,399,315 (GRCm39) V669I probably benign Het
Cep89 T A 7: 35,102,432 (GRCm39) probably benign Het
Chl1 T G 6: 103,619,017 (GRCm39) L29R possibly damaging Het
Defb2 T C 8: 22,333,353 (GRCm39) Y43H probably damaging Het
Disc1 A G 8: 125,977,781 (GRCm39) Y799C probably damaging Het
Egf G T 3: 129,510,417 (GRCm39) A34E probably damaging Het
Fat2 A T 11: 55,203,071 (GRCm39) M1K probably null Het
Gprin1 T C 13: 54,887,005 (GRCm39) E423G probably damaging Het
Kcnh6 T C 11: 105,918,375 (GRCm39) probably benign Het
Kcnt1 A G 2: 25,798,164 (GRCm39) E925G probably damaging Het
Kctd16 A T 18: 40,391,733 (GRCm39) K107I possibly damaging Het
Lrig1 T C 6: 94,584,305 (GRCm39) K913R probably benign Het
Marchf7 A G 2: 60,065,235 (GRCm39) T504A possibly damaging Het
Nlrp4a T C 7: 26,149,394 (GRCm39) F334L probably benign Het
Or2z2 C T 11: 58,346,335 (GRCm39) V147M probably benign Het
Or55b10 T A 7: 102,143,746 (GRCm39) T79S probably benign Het
Parp6 A G 9: 59,557,244 (GRCm39) T610A possibly damaging Het
Pcdhb15 T G 18: 37,607,091 (GRCm39) L108V probably benign Het
Pomgnt1 G T 4: 116,010,105 (GRCm39) E156* probably null Het
Psma2 T G 13: 14,798,192 (GRCm39) F105V possibly damaging Het
Rapgef4 A G 2: 72,055,396 (GRCm39) probably benign Het
Sclt1 A T 3: 41,636,156 (GRCm39) S282T possibly damaging Het
Semp2l2b A T 10: 21,943,176 (GRCm39) M268K probably benign Het
Serpina3f A G 12: 104,185,725 (GRCm39) Y310C probably damaging Het
Sh3pxd2a T C 19: 47,261,886 (GRCm39) K331R probably damaging Het
Tectb T C 19: 55,178,027 (GRCm39) F183L possibly damaging Het
Tgfbr1 A G 4: 47,403,388 (GRCm39) H327R probably damaging Het
Try10 T A 6: 41,333,523 (GRCm39) D89E probably benign Het
Ttn G A 2: 76,587,128 (GRCm39) S21623L probably damaging Het
Ttn A G 2: 76,612,282 (GRCm39) L15489P probably damaging Het
Vdac3-ps1 A G 13: 18,205,973 (GRCm39) noncoding transcript Het
Vmn2r69 T A 7: 85,056,434 (GRCm39) Q568L probably benign Het
Wdr36 T A 18: 32,985,941 (GRCm39) D548E probably damaging Het
Zfand4 T A 6: 116,250,613 (GRCm39) H14Q 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
R1013:Mrpl11 UTSW 19 5,013,651 (GRCm39) missense possibly damaging 0.76
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
Posted On 2014-05-07