Incidental Mutation 'IGL02187:Mrpl51'
ID 283704
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl51
Ensembl Gene ENSMUSG00000030335
Gene Name mitochondrial ribosomal protein L51
Synonyms CDA09, Mrp64, HSPC241, 2610511M02Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02187
Quality Score
Status
Chromosome 6
Chromosomal Location 125169163-125171355 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125170294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 100 (N100S)
Ref Sequence ENSEMBL: ENSMUSP00000032485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032485] [ENSMUST00000043848] [ENSMUST00000188762] [ENSMUST00000189959]
AlphaFold Q9CPY1
Predicted Effect probably benign
Transcript: ENSMUST00000032485
AA Change: N100S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000032485
Gene: ENSMUSG00000030335
AA Change: N100S

DomainStartEndE-ValueType
Pfam:MRP-L51 38 126 4.2e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000043848
SMART Domains Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252

DomainStartEndE-ValueType
Pfam:Cnd1_N 75 240 1.4e-41 PFAM
low complexity region 461 472 N/A INTRINSIC
low complexity region 936 949 N/A INTRINSIC
Pfam:Cnd1 1058 1224 2.5e-65 PFAM
low complexity region 1329 1345 N/A INTRINSIC
low complexity region 1357 1369 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144380
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175416
Predicted Effect probably benign
Transcript: ENSMUST00000188762
Predicted Effect probably benign
Transcript: ENSMUST00000189959
SMART Domains Protein: ENSMUSP00000139445
Gene: ENSMUSG00000038252

DomainStartEndE-ValueType
Pfam:Cnd1_N 73 162 8.3e-6 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. Pseudogenes corresponding to this gene are found on chromosomes 4p and 21q. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 C A 8: 114,439,826 (GRCm39) E922D possibly damaging Het
Asxl3 T A 18: 22,658,035 (GRCm39) M2015K probably damaging Het
C8a C A 4: 104,719,933 (GRCm39) R15L probably damaging Het
Catsperg2 A G 7: 29,420,791 (GRCm39) V47A probably benign Het
Cdhr2 C T 13: 54,881,523 (GRCm39) T1081I possibly damaging Het
Cenatac C T 9: 44,322,084 (GRCm39) probably benign Het
Cep85 T A 4: 133,858,616 (GRCm39) M752L possibly damaging Het
Cxcr3 T A X: 100,776,483 (GRCm39) S60C probably damaging Het
Cyp24a1 T A 2: 170,336,013 (GRCm39) N208I probably damaging Het
Cyp2c38 A G 19: 39,424,649 (GRCm39) I223T probably benign Het
Dennd6a A G 14: 26,328,081 (GRCm39) I35V probably benign Het
Emb T G 13: 117,405,507 (GRCm39) probably benign Het
Fbxo3 T C 2: 103,858,295 (GRCm39) Y30H probably damaging Het
Fnbp1l G A 3: 122,362,449 (GRCm39) R120* probably null Het
Galnt2 T C 8: 125,032,245 (GRCm39) probably benign Het
Gckr T C 5: 31,464,768 (GRCm39) probably benign Het
Gpr101 A G X: 56,546,841 (GRCm39) F103S probably damaging Het
Gprasp1 T A X: 134,699,912 (GRCm39) V35E probably damaging Het
Ift80 C A 3: 68,892,789 (GRCm39) W133L probably damaging Het
Impdh1 C A 6: 29,207,086 (GRCm39) probably benign Het
Ino80 T C 2: 119,275,938 (GRCm39) probably benign Het
Kansl1 A T 11: 104,269,657 (GRCm39) probably null Het
Klhl20 C T 1: 160,937,280 (GRCm39) V32I probably benign Het
Lrfn3 A G 7: 30,055,389 (GRCm39) S519P probably damaging Het
Mybpc3 T C 2: 90,965,797 (GRCm39) I1203T probably benign Het
Nbr1 A G 11: 101,460,185 (GRCm39) I394V possibly damaging Het
Nfasc G A 1: 132,498,219 (GRCm39) T1155M probably damaging Het
Or7g34 T A 9: 19,478,393 (GRCm39) T96S probably benign Het
Pan3 T C 5: 147,463,398 (GRCm39) I440T probably benign Het
Patz1 T C 11: 3,241,134 (GRCm39) L174P probably damaging Het
Paxx A G 2: 25,350,668 (GRCm39) L62P probably damaging Het
Plekhh1 T C 12: 79,119,592 (GRCm39) S972P probably damaging Het
Ppp1r13b G T 12: 111,801,472 (GRCm39) T404K probably damaging Het
Prkaa2 T C 4: 104,904,363 (GRCm39) N238S probably benign Het
Prpf6 T C 2: 181,257,809 (GRCm39) Y94H probably damaging Het
Rtn4 T C 11: 29,658,291 (GRCm39) I815T possibly damaging Het
Slc44a5 A G 3: 153,968,554 (GRCm39) T582A probably benign Het
Slitrk3 A G 3: 72,957,605 (GRCm39) L389S probably damaging Het
Srp54b T A 12: 55,299,560 (GRCm39) M297K probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zmym4 T A 4: 126,764,066 (GRCm39) I1325L probably damaging Het
Zswim2 C A 2: 83,753,982 (GRCm39) R226L probably damaging Het
Other mutations in Mrpl51
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:Mrpl51 APN 6 125,170,177 (GRCm39) unclassified probably benign
IGL01075:Mrpl51 APN 6 125,169,566 (GRCm39) missense probably benign 0.30
R4851:Mrpl51 UTSW 6 125,170,270 (GRCm39) missense probably benign 0.03
R6800:Mrpl51 UTSW 6 125,169,367 (GRCm39) missense probably benign
R7536:Mrpl51 UTSW 6 125,169,530 (GRCm39) missense possibly damaging 0.87
R8786:Mrpl51 UTSW 6 125,169,340 (GRCm39) missense probably benign
R8810:Mrpl51 UTSW 6 125,170,344 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16