Incidental Mutation 'R4466:Mrpl47'
ID330335
Institutional Source Beutler Lab
Gene Symbol Mrpl47
Ensembl Gene ENSMUSG00000037531
Gene Namemitochondrial ribosomal protein L47
SynonymsCGI-204, 4833424P18Rik, NCM1
MMRRC Submission 041723-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4466 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location32725397-32737605 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 32730091 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 177 (R177*)
Ref Sequence ENSEMBL: ENSMUSP00000048078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029214] [ENSMUST00000043966]
Predicted Effect probably benign
Transcript: ENSMUST00000029214
SMART Domains Protein: ENSMUSP00000029214
Gene: ENSMUSG00000027671

DomainStartEndE-ValueType
ACTIN 11 429 1.37e-189 SMART
Predicted Effect probably null
Transcript: ENSMUST00000043966
AA Change: R177*
SMART Domains Protein: ENSMUSP00000048078
Gene: ENSMUSG00000037531
AA Change: R177*

DomainStartEndE-ValueType
Pfam:MRP-L47 66 151 4.6e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153564
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153779
Predicted Effect probably benign
Transcript: ENSMUST00000193231
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: 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. This gene is immediately adjacent to the gene for BRG1/brm-associated factor 53A (also known as BAF complex 53 kDa subunit protein A in humans) in a tail-to-tail orientation. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449A18Rik A T 3: 59,838,466 noncoding transcript Het
Adgra1 T A 7: 139,840,836 probably benign Het
Akap13 T A 7: 75,602,773 probably null Het
Amn1 T C 6: 149,166,845 probably null Het
Ano5 T A 7: 51,570,275 F374I probably damaging Het
Apol7c T C 15: 77,526,464 E94G probably benign Het
Arid4b A T 13: 14,132,510 S117C probably damaging Het
Atm C A 9: 53,448,169 E2778* probably null Het
Cped1 A T 6: 22,123,652 Q468L probably benign Het
Crygb A G 1: 65,080,486 S112P probably damaging Het
Eml4 C T 17: 83,421,674 Q93* probably null Het
Eps15 G A 4: 109,366,530 probably benign Het
Fabp3 C T 4: 130,312,387 T57I probably benign Het
Fam102b T A 3: 108,979,808 R291S probably benign Het
Fhad1 A T 4: 141,957,658 S457T probably damaging Het
Frmd4b A G 6: 97,323,653 probably null Het
Gm5134 G C 10: 76,008,575 K588N probably benign Het
Gpr21 A G 2: 37,517,558 T39A probably benign Het
Irx1 C A 13: 71,959,982 G194W probably damaging Het
Itgal C T 7: 127,328,512 T992I possibly damaging Het
Itpr3 T C 17: 27,106,342 L1303P probably damaging Het
Kdm2a A T 19: 4,320,300 D1052E probably damaging Het
Klhl6 T C 16: 19,957,268 D180G probably damaging Het
M6pr A G 6: 122,313,269 T64A probably benign Het
Mtfr2 A G 10: 20,348,413 Y31C probably damaging Het
Mup6 T C 4: 60,004,000 I31T probably damaging Het
Oas2 A G 5: 120,749,602 S58P probably damaging Het
Olfr1489 G A 19: 13,633,437 E109K probably damaging Het
Olfr339 A T 2: 36,422,296 R299S probably benign Het
Olfr883 T A 9: 38,026,183 C126S probably damaging Het
Polr1b A T 2: 129,123,882 I815L probably benign Het
Psma8 T C 18: 14,721,174 I37T possibly damaging Het
Ryr3 T C 2: 112,653,102 E4100G possibly damaging Het
Serpina3g C T 12: 104,237,923 probably benign Het
Serpina3m A T 12: 104,391,615 Y266F probably damaging Het
Sez6l2 T A 7: 126,959,851 D423E probably damaging Het
Sh3gl2 A G 4: 85,381,451 E224G possibly damaging Het
Sh3pxd2a A G 19: 47,364,707 V105A possibly damaging Het
Slc24a2 A T 4: 87,227,862 probably benign Het
Smyd2 A G 1: 189,882,152 M393T probably benign Het
Sox8 C A 17: 25,568,905 G190V probably benign Het
Stag2 A G X: 42,233,872 S400G probably benign Het
Stk35 C A 2: 129,801,516 T140K probably damaging Het
Taf6 A C 5: 138,181,201 probably benign Het
Ten1 A C 11: 116,204,997 probably benign Het
Tmem181a T A 17: 6,295,786 L185H probably damaging Het
Ttn A G 2: 76,713,700 F32981L probably damaging Het
Zik1 G T 7: 10,490,966 T68K probably benign Het
Zzef1 T A 11: 72,924,659 I2935N probably damaging Het
Other mutations in Mrpl47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02408:Mrpl47 APN 3 32736640 critical splice donor site probably null
R0555:Mrpl47 UTSW 3 32736693 missense probably benign
R0885:Mrpl47 UTSW 3 32730186 missense probably damaging 0.98
R1754:Mrpl47 UTSW 3 32730084 missense probably benign 0.01
R4751:Mrpl47 UTSW 3 32728441 missense probably benign
R5116:Mrpl47 UTSW 3 32733601 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AAACACTTTGTCGTTTAGGGGATG -3'
(R):5'- GCTTTGTGGATGCCCTAGAG -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- CCCTAGAGTTCTTTTGGAATGCAG -3'
Posted On2015-07-21