Incidental Mutation 'R1726:Mrpl57'
ID 198172
Institutional Source Beutler Lab
Gene Symbol Mrpl57
Ensembl Gene ENSMUSG00000021967
Gene Name mitochondrial ribosomal protein L57
Synonyms 2610025P17Rik, Mrp63
MMRRC Submission 039758-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # R1726 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 58063662-58066544 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58064092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 40 (E40G)
Ref Sequence ENSEMBL: ENSMUSP00000022538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022536] [ENSMUST00000022538]
AlphaFold Q9CQF8
Predicted Effect probably benign
Transcript: ENSMUST00000022536
SMART Domains Protein: ENSMUSP00000022536
Gene: ENSMUSG00000021965

DomainStartEndE-ValueType
PDB:4AJ5|Z 1 101 3e-46 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000022538
AA Change: E40G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022538
Gene: ENSMUSG00000021967
AA Change: E40G

DomainStartEndE-ValueType
Pfam:MRP-63 13 101 9e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083440
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223726
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224313
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225753
Meta Mutation Damage Score 0.4205 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.6%
Validation Efficiency 97% (63/65)
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 protein which belongs to an undetermined ribosomal subunit and which seems to be specific to animal mitoribosomes. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 3p, 5q, 8q, 14q, and Y. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G C 12: 118,838,536 (GRCm39) probably null Het
Abcb5 A T 12: 118,871,267 (GRCm39) S711T possibly damaging Het
Acoxl G A 2: 127,722,366 (GRCm39) G216R probably damaging Het
Arhgef18 A T 8: 3,504,228 (GRCm39) N949I possibly damaging Het
Bltp3a C A 17: 28,105,225 (GRCm39) probably null Het
Brip1 A T 11: 85,955,740 (GRCm39) S924R probably benign Het
Btf3 C T 13: 98,452,804 (GRCm39) M1I probably null Het
Ccdc141 A G 2: 76,938,700 (GRCm39) probably benign Het
Ccdc80 A T 16: 44,916,368 (GRCm39) T375S probably benign Het
Ccl11 A G 11: 81,952,546 (GRCm39) K40E possibly damaging Het
Chrnb2 A T 3: 89,668,509 (GRCm39) C269S probably damaging Het
Dgat2 A G 7: 98,831,623 (GRCm39) S33P possibly damaging Het
Dip2c A G 13: 9,625,464 (GRCm39) D608G probably damaging Het
Dnah2 A T 11: 69,388,715 (GRCm39) D889E probably damaging Het
Dvl2 A T 11: 69,900,287 (GRCm39) T694S probably benign Het
Elapor1 A G 3: 108,375,184 (GRCm39) I561T possibly damaging Het
Fbf1 A G 11: 116,036,280 (GRCm39) V1100A probably benign Het
Galt G A 4: 41,756,001 (GRCm39) W22* probably null Het
Garem1 C A 18: 21,281,319 (GRCm39) V346L probably damaging Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gm10762 A T 2: 128,809,135 (GRCm39) probably benign Het
Gm21900 A G Y: 10,616,358 (GRCm39) probably null Het
Gm2663 T C 6: 40,974,960 (GRCm39) Y37C probably damaging Het
Gm42791 C A 5: 148,896,311 (GRCm39) probably benign Het
Gm5134 C A 10: 75,828,361 (GRCm39) P314T possibly damaging Het
Gtf3c2 T C 5: 31,326,467 (GRCm39) E348G possibly damaging Het
H2-T24 T A 17: 36,326,513 (GRCm39) M129L probably benign Het
Ikzf2 C A 1: 69,587,847 (GRCm39) R214L probably damaging Het
Insyn2a T C 7: 134,500,867 (GRCm39) probably benign Het
Itpr3 T A 17: 27,330,664 (GRCm39) L1691Q probably damaging Het
Kmt2c C T 5: 25,520,003 (GRCm39) G2036R probably damaging Het
Lrp10 T C 14: 54,707,113 (GRCm39) L650P probably damaging Het
Mcm9 G A 10: 53,413,977 (GRCm39) P368S possibly damaging Het
Mob3b A G 4: 34,954,028 (GRCm39) M214T probably benign Het
Mrpl1 T C 5: 96,371,686 (GRCm39) V71A probably benign Het
Mtmr9 A G 14: 63,774,547 (GRCm39) V162A possibly damaging Het
Nalcn A T 14: 123,545,816 (GRCm39) V1065E probably damaging Het
Nemp2 A G 1: 52,676,554 (GRCm39) D42G probably damaging Het
Npepps A G 11: 97,115,495 (GRCm39) L623P probably damaging Het
Olig3 A G 10: 19,232,482 (GRCm39) S36G probably benign Het
Or10j5 A G 1: 172,784,658 (GRCm39) T99A probably benign Het
Or11g26 T A 14: 50,753,636 (GRCm39) probably null Het
Or5e1 T C 7: 108,354,215 (GRCm39) S51P probably benign Het
Pcdhb14 T A 18: 37,582,647 (GRCm39) Y584* probably null Het
Pcyox1l T C 18: 61,830,849 (GRCm39) Y341C probably benign Het
Pdxdc1 A C 16: 13,656,164 (GRCm39) probably null Het
Pias4 A C 10: 80,991,689 (GRCm39) V313G probably damaging Het
Pkd1 C T 17: 24,783,150 (GRCm39) T81M probably damaging Het
Ptprm T C 17: 67,349,322 (GRCm39) I40M probably damaging Het
Reep6 T C 10: 80,170,954 (GRCm39) S277P probably benign Het
Shank3 A G 15: 89,442,189 (GRCm39) E1694G probably damaging Het
Shq1 T C 6: 100,613,996 (GRCm39) Y274C probably benign Het
Slc12a6 T A 2: 112,177,771 (GRCm39) I630N probably damaging Het
Slc14a1 T A 18: 78,159,681 (GRCm39) N15Y probably benign Het
Slc17a4 A T 13: 24,089,574 (GRCm39) Y114* probably null Het
Slc26a1 C T 5: 108,821,541 (GRCm39) G116D probably damaging Het
Smg8 G T 11: 86,971,439 (GRCm39) Y777* probably null Het
Tlr11 A T 14: 50,598,998 (GRCm39) H328L probably benign Het
Ube2c G T 2: 164,613,237 (GRCm39) A52S probably damaging Het
Unc5c A G 3: 141,523,864 (GRCm39) S806G probably damaging Het
Zfp874b A T 13: 67,622,839 (GRCm39) I153K probably damaging Het
Zkscan2 T A 7: 123,089,046 (GRCm39) E408D probably damaging Het
Other mutations in Mrpl57
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1902:Mrpl57 UTSW 14 58,064,186 (GRCm39) missense probably damaging 0.99
R7110:Mrpl57 UTSW 14 58,063,754 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- AACGAACGCGCTACACATTTGAATC -3'
(R):5'- TCTCAGCTCCAGGACCAAGTAAGG -3'

Sequencing Primer
(F):5'- CGAGAGCGGAACTCTAGCATC -3'
(R):5'- CCGGTATCCATAATCTTGAAGGG -3'
Posted On 2014-05-23