Incidental Mutation 'R6359:Mrpl4'
ID 514192
Institutional Source Beutler Lab
Gene Symbol Mrpl4
Ensembl Gene ENSMUSG00000003299
Gene Name mitochondrial ribosomal protein L4
Synonyms 1110017G11Rik
MMRRC Submission 044509-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R6359 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 20914034-20920135 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20919030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 225 (V225E)
Ref Sequence ENSEMBL: ENSMUSP00000150112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003386] [ENSMUST00000214124] [ENSMUST00000216175] [ENSMUST00000216824]
AlphaFold Q9DCU6
Predicted Effect probably damaging
Transcript: ENSMUST00000003386
AA Change: V219E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003386
Gene: ENSMUSG00000003299
AA Change: V219E

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Pfam:Ribosomal_L4 80 272 1.4e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213977
Predicted Effect probably damaging
Transcript: ENSMUST00000214124
AA Change: V225E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000216175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216325
Predicted Effect probably benign
Transcript: ENSMUST00000216466
Predicted Effect probably benign
Transcript: ENSMUST00000216818
Predicted Effect probably benign
Transcript: ENSMUST00000216824
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency 100% (30/30)
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 alternatively spliced variants that encode different protein isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asic5 A T 3: 81,911,803 (GRCm39) D133V possibly damaging Het
Atp11b A G 3: 35,832,210 (GRCm39) I22V probably benign Het
Ccdc18 C T 5: 108,283,391 (GRCm39) T34I probably damaging Het
Ces2a A G 8: 105,462,710 (GRCm39) I100V probably benign Het
Ddi2 T A 4: 141,411,899 (GRCm39) T338S probably damaging Het
Dync1li1 A G 9: 114,542,638 (GRCm39) I267V probably benign Het
Eif1ad14 G A 12: 87,886,275 (GRCm39) T118M probably benign Het
Fbxo10 A T 4: 45,041,796 (GRCm39) V637E possibly damaging Het
Gak T C 5: 108,719,766 (GRCm39) E458G probably damaging Het
Glp1r G T 17: 31,148,946 (GRCm39) V287F probably damaging Het
Gsdmc2 T C 15: 63,696,866 (GRCm39) E435G probably damaging Het
Hsd11b1 T A 1: 192,924,660 (GRCm39) probably benign Het
Igkv13-84 T G 6: 68,916,592 (GRCm39) F3V probably benign Het
Igsf9b C A 9: 27,220,895 (GRCm39) A87E probably benign Het
Ints1 G T 5: 139,741,972 (GRCm39) L1796I probably benign Het
Ipo8 A G 6: 148,678,748 (GRCm39) L950P probably benign Het
Lama5 T C 2: 179,837,775 (GRCm39) D931G probably benign Het
Lamb1 A G 12: 31,332,715 (GRCm39) E327G probably damaging Het
Lrp1b T C 2: 41,185,608 (GRCm39) Y1369C probably damaging Het
Mapk3 A G 7: 126,359,928 (GRCm39) T67A probably benign Het
Ncln C T 10: 81,326,118 (GRCm39) G278S probably damaging Het
Nlrp3 G A 11: 59,439,392 (GRCm39) R323Q probably damaging Het
Nol8 A G 13: 49,817,546 (GRCm39) D774G probably benign Het
Or11i1 A T 3: 106,729,731 (GRCm39) I48N probably damaging Het
Or52p1 T C 7: 104,267,510 (GRCm39) V208A probably damaging Het
Plekha8 G T 6: 54,590,104 (GRCm39) C23F probably damaging Het
Prkag1 T C 15: 98,712,433 (GRCm39) Y133C probably damaging Het
Spata31d1a A G 13: 59,850,920 (GRCm39) S403P probably benign Het
Spata31d1c A T 13: 65,183,406 (GRCm39) N316I possibly damaging Het
Tmem30c A T 16: 57,096,513 (GRCm39) S203T probably benign Het
Ttn T G 2: 76,569,300 (GRCm39) N18871H possibly damaging Het
Other mutations in Mrpl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Mrpl4 APN 9 20,919,863 (GRCm39) missense probably benign
IGL01088:Mrpl4 APN 9 20,914,627 (GRCm39) missense probably damaging 1.00
IGL02991:Mrpl4 UTSW 9 20,919,901 (GRCm39) missense probably damaging 1.00
R0051:Mrpl4 UTSW 9 20,918,964 (GRCm39) missense probably damaging 0.98
R0138:Mrpl4 UTSW 9 20,919,888 (GRCm39) missense probably benign 0.06
R0266:Mrpl4 UTSW 9 20,914,610 (GRCm39) missense probably benign 0.43
R1449:Mrpl4 UTSW 9 20,918,807 (GRCm39) missense possibly damaging 0.89
R1855:Mrpl4 UTSW 9 20,914,667 (GRCm39) missense possibly damaging 0.95
R1899:Mrpl4 UTSW 9 20,918,127 (GRCm39) missense probably damaging 1.00
R4260:Mrpl4 UTSW 9 20,918,988 (GRCm39) missense possibly damaging 0.76
R4406:Mrpl4 UTSW 9 20,918,231 (GRCm39) missense probably damaging 1.00
R4622:Mrpl4 UTSW 9 20,918,793 (GRCm39) missense probably damaging 0.99
R7201:Mrpl4 UTSW 9 20,918,634 (GRCm39) missense probably benign 0.03
R7476:Mrpl4 UTSW 9 20,914,067 (GRCm39) unclassified probably benign
R7529:Mrpl4 UTSW 9 20,918,975 (GRCm39) missense probably benign 0.01
R8808:Mrpl4 UTSW 9 20,918,978 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- AGCTCATGCAGGTATGGTAC -3'
(R):5'- TGTGGAGTATCAACTGGACCC -3'

Sequencing Primer
(F):5'- GCTCATGCAGGTATGGTACAGTAC -3'
(R):5'- GTGGAGTATCAACTGGACCCATCAC -3'
Posted On 2018-04-27