Incidental Mutation 'IGL02001:Mrpl11'
ID183037
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl11
Ensembl Gene ENSMUSG00000024902
Gene Namemitochondrial ribosomal protein L11
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.909) question?
Stock #IGL02001
Quality Score
Status
Chromosome19
Chromosomal Location4962306-4966995 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 4963652 bp
ZygosityHeterozygous
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]
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
4930444G20Rik A T 10: 22,067,277 M268K probably benign Het
A530064D06Rik T C 17: 48,166,674 N25S possibly damaging Het
Als2 A T 1: 59,180,188 probably benign Het
Asah2 T A 19: 32,043,539 K255* probably null Het
Bclaf1 A G 10: 20,323,016 probably benign Het
Bpifb2 T C 2: 153,891,275 probably benign Het
Cacna2d2 G A 9: 107,522,116 V669I probably benign Het
Cep89 T A 7: 35,403,007 probably benign Het
Chl1 T G 6: 103,642,056 L29R possibly damaging Het
Defb2 T C 8: 21,843,337 Y43H probably damaging Het
Disc1 A G 8: 125,251,042 Y799C probably damaging Het
Egf G T 3: 129,716,768 A34E probably damaging Het
Fat2 A T 11: 55,312,245 M1K probably null Het
Gprin1 T C 13: 54,739,192 E423G probably damaging Het
Kcnh6 T C 11: 106,027,549 probably benign Het
Kcnt1 A G 2: 25,908,152 E925G probably damaging Het
Kctd16 A T 18: 40,258,680 K107I possibly damaging Het
Lrig1 T C 6: 94,607,324 K913R probably benign Het
March7 A G 2: 60,234,891 T504A possibly damaging Het
Nlrp4a T C 7: 26,449,969 F334L probably benign Het
Olfr30 C T 11: 58,455,509 V147M probably benign Het
Olfr545 T A 7: 102,494,539 T79S probably benign Het
Parp6 A G 9: 59,649,961 T610A possibly damaging Het
Pcdhb15 T G 18: 37,474,038 L108V probably benign Het
Pomgnt1 G T 4: 116,152,908 E156* probably null Het
Psma2 T G 13: 14,623,607 F105V possibly damaging Het
Rapgef4 A G 2: 72,225,052 probably benign Het
Sclt1 A T 3: 41,681,721 S282T possibly damaging Het
Serpina3f A G 12: 104,219,466 Y310C probably damaging Het
Sh3pxd2a T C 19: 47,273,447 K331R probably damaging Het
Tectb T C 19: 55,189,595 F183L possibly damaging Het
Tgfbr1 A G 4: 47,403,388 H327R probably damaging Het
Try10 T A 6: 41,356,589 D89E probably benign Het
Ttn G A 2: 76,756,784 S21623L probably damaging Het
Ttn A G 2: 76,781,938 L15489P probably damaging Het
Vdac3-ps1 A G 13: 18,031,388 noncoding transcript Het
Vmn2r69 T A 7: 85,407,226 Q568L probably benign Het
Wdr36 T A 18: 32,852,888 D548E probably damaging Het
Zfand4 T A 6: 116,273,652 H14Q probably benign Het
Other mutations in Mrpl11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01386:Mrpl11 APN 19 4963381 missense probably null 1.00
IGL01538:Mrpl11 APN 19 4963421 critical splice donor site probably null
R1013:Mrpl11 UTSW 19 4963623 missense possibly damaging 0.76
R2155:Mrpl11 UTSW 19 4962469 missense probably damaging 1.00
R2156:Mrpl11 UTSW 19 4962469 missense probably damaging 1.00
R6061:Mrpl11 UTSW 19 4963369 missense possibly damaging 0.92
R6209:Mrpl11 UTSW 19 4964715 missense probably damaging 0.96
Posted On2014-05-07