Incidental Mutation 'IGL02881:Mrpl10'
ID 362803
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl10
Ensembl Gene ENSMUSG00000001445
Gene Name mitochondrial ribosomal protein L10
Synonyms Rpml8, MRP-L8, 0610040E02Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # IGL02881
Quality Score
Status
Chromosome 11
Chromosomal Location 96932408-96940039 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 96937899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 89 (V89D)
Ref Sequence ENSEMBL: ENSMUSP00000103244 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001485] [ENSMUST00000054252] [ENSMUST00000090020] [ENSMUST00000168565]
AlphaFold Q3TBW2
Predicted Effect probably damaging
Transcript: ENSMUST00000001485
AA Change: V89D

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000001485
Gene: ENSMUSG00000001445
AA Change: V89D

DomainStartEndE-ValueType
low complexity region 66 73 N/A INTRINSIC
low complexity region 109 120 N/A INTRINSIC
low complexity region 202 211 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000054252
AA Change: V89D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103244
Gene: ENSMUSG00000001445
AA Change: V89D

DomainStartEndE-ValueType
low complexity region 66 73 N/A INTRINSIC
low complexity region 109 120 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090020
SMART Domains Protein: ENSMUSP00000087474
Gene: ENSMUSG00000038534

DomainStartEndE-ValueType
low complexity region 36 47 N/A INTRINSIC
low complexity region 138 154 N/A INTRINSIC
PH 174 270 7.76e-11 SMART
low complexity region 533 551 N/A INTRINSIC
Pfam:Oxysterol_BP 599 947 4.6e-135 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139752
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154084
Predicted Effect probably benign
Transcript: ENSMUST00000168565
SMART Domains Protein: ENSMUSP00000126902
Gene: ENSMUSG00000038534

DomainStartEndE-ValueType
PH 3 99 7.76e-11 SMART
Pfam:Oxysterol_BP 427 776 8.8e-140 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified three transcript variants that encode two different isoforms. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik C A 8: 13,605,999 (GRCm39) probably benign Het
Aatf A G 11: 84,362,115 (GRCm39) probably benign Het
Asap3 A T 4: 135,966,548 (GRCm39) H542L probably benign Het
Cyp4v3 A T 8: 45,761,753 (GRCm39) L389H probably damaging Het
Dnah17 C T 11: 117,932,944 (GRCm39) E3605K probably damaging Het
Fry C T 5: 150,282,516 (GRCm39) T347M probably damaging Het
Glul C A 1: 153,782,862 (GRCm39) T191K probably benign Het
Grsf1 A T 5: 88,821,689 (GRCm39) L125Q probably damaging Het
Hfm1 A G 5: 107,022,118 (GRCm39) I976T probably damaging Het
Itgb5 A G 16: 33,740,275 (GRCm39) T462A probably benign Het
Lmna G T 3: 88,410,233 (GRCm39) R60S possibly damaging Het
Muc5b C T 7: 141,411,449 (GRCm39) T1465I unknown Het
Myh15 A C 16: 48,937,628 (GRCm39) D743A possibly damaging Het
Noxo1 C A 17: 24,918,409 (GRCm39) L190I probably damaging Het
Noxo1 T A 17: 24,918,410 (GRCm39) L190Q probably damaging Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Or2aj5 A T 16: 19,425,050 (GRCm39) Y123N probably damaging Het
Or4c121 T A 2: 89,023,985 (GRCm39) Y131F probably damaging Het
Or5m13 A G 2: 85,748,460 (GRCm39) S64G probably benign Het
Or8h8 A G 2: 86,753,057 (GRCm39) V273A possibly damaging Het
Pfkfb4 A G 9: 108,836,364 (GRCm39) T131A probably null Het
Phf20l1 T C 15: 66,466,829 (GRCm39) probably null Het
Pnliprp2 A G 19: 58,759,878 (GRCm39) D363G probably benign Het
Prpf6 C T 2: 181,273,864 (GRCm39) T336I probably benign Het
Rcc1 C T 4: 132,065,067 (GRCm39) R139H probably benign Het
Sae1 T G 7: 16,093,043 (GRCm39) K221N probably damaging Het
Slc45a1 T C 4: 150,722,987 (GRCm39) K299R probably benign Het
Slco1a8 T C 6: 141,917,969 (GRCm39) R636G probably benign Het
Smad2 C A 18: 76,432,851 (GRCm39) probably null Het
Tmem117 T C 15: 94,777,306 (GRCm39) F152S probably damaging Het
Tmem232 C T 17: 65,757,365 (GRCm39) C276Y probably damaging Het
Tor1b A T 2: 30,843,865 (GRCm39) K47* probably null Het
Ttn A G 2: 76,740,147 (GRCm39) V3464A probably benign Het
Ube3b A G 5: 114,550,945 (GRCm39) T870A possibly damaging Het
Zscan25 T G 5: 145,227,296 (GRCm39) L320R probably benign Het
Other mutations in Mrpl10
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4807:Mrpl10 UTSW 11 96,932,449 (GRCm39) missense probably benign 0.01
R7720:Mrpl10 UTSW 11 96,938,363 (GRCm39) missense possibly damaging 0.79
R7744:Mrpl10 UTSW 11 96,935,402 (GRCm39) missense probably damaging 1.00
R8475:Mrpl10 UTSW 11 96,938,261 (GRCm39) missense probably benign 0.07
Posted On 2015-12-18