Incidental Mutation 'IGL01075:Mrpl51'
ID51260
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl51
Ensembl Gene ENSMUSG00000030335
Gene Namemitochondrial ribosomal protein L51
SynonymsHSPC241, Mrp64, CDA09, 2610511M02Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01075
Quality Score
Status
Chromosome6
Chromosomal Location125191801-125196269 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 125192603 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 56 (V56A)
Ref Sequence ENSEMBL: ENSMUSP00000032485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032485] [ENSMUST00000043848] [ENSMUST00000188762] [ENSMUST00000189959]
Predicted Effect probably benign
Transcript: ENSMUST00000032485
AA Change: V56A

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000032485
Gene: ENSMUSG00000030335
AA Change: V56A

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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 A G 10: 20,987,025 T700A possibly damaging Het
Cacng5 C T 11: 107,881,705 V106I probably benign Het
Chd3 T C 11: 69,359,965 D646G probably damaging Het
Esf1 A G 2: 140,120,745 V802A probably benign Het
Gm13084 T C 4: 143,811,646 T252A possibly damaging Het
Hdac6 T C X: 7,936,452 probably null Het
Il1rap A C 16: 26,680,237 N162T possibly damaging Het
Mpdu1 T C 11: 69,657,325 T208A probably damaging Het
Myadm A C 7: 3,297,246 T175P probably damaging Het
Nek1 C A 8: 61,124,132 T1077K possibly damaging Het
Olfr1153 A G 2: 87,896,921 T249A probably benign Het
Pcnt G A 10: 76,422,904 Q576* probably null Het
Tchhl1 A T 3: 93,470,316 D109V probably damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tns3 G A 11: 8,478,399 P848S probably benign Het
Ttc4 T C 4: 106,671,648 I209M probably benign Het
Zfp536 A T 7: 37,567,890 S700R probably damaging Het
Other mutations in Mrpl51
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:Mrpl51 APN 6 125193214 unclassified probably benign
IGL02187:Mrpl51 APN 6 125193331 missense probably benign 0.01
R4851:Mrpl51 UTSW 6 125193307 missense probably benign 0.03
R6800:Mrpl51 UTSW 6 125192404 missense probably benign
Posted On2013-06-21