Incidental Mutation 'R5405:Mrpl48'
ID 428672
Institutional Source Beutler Lab
Gene Symbol Mrpl48
Ensembl Gene ENSMUSG00000030706
Gene Name mitochondrial ribosomal protein L48
Synonyms 1810030E20Rik, D4Ertd786e, CGI-118
Accession Numbers
Essential gene? Probably essential (E-score: 0.886) question?
Stock # R5405 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 100194986-100257508 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100209000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 108 (Y108C)
Ref Sequence ENSEMBL: ENSMUSP00000116090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107053] [ENSMUST00000132888] [ENSMUST00000137777] [ENSMUST00000138448] [ENSMUST00000146003] [ENSMUST00000150042] [ENSMUST00000152876]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000107053
Predicted Effect probably damaging
Transcript: ENSMUST00000132888
AA Change: Y10C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000137777
AA Change: Y10C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000138448
AA Change: Y10C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000146003
AA Change: Y10C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000150042
AA Change: Y108C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116090
Gene: ENSMUSG00000030706
AA Change: Y108C

DomainStartEndE-ValueType
low complexity region 62 74 N/A INTRINSIC
Pfam:Ribosomal_S10 91 186 2.6e-16 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000152876
AA Change: Y113C
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
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. A pseudogene corresponding to this gene is found on chromosome 6p. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A T 6: 86,078,179 (GRCm39) T298S probably benign Het
Atad2b G A 12: 4,990,098 (GRCm39) R141Q possibly damaging Het
B3glct A G 5: 149,632,818 (GRCm39) Q56R probably damaging Het
Cdc42bpa A G 1: 179,894,894 (GRCm39) Y358C probably damaging Het
Cdc42bpa A G 1: 179,966,085 (GRCm39) E1136G possibly damaging Het
Ceacam1 A T 7: 25,163,290 (GRCm39) N314K probably benign Het
Ces1g A T 8: 94,032,496 (GRCm39) I488N probably benign Het
Chd6 C T 2: 160,807,310 (GRCm39) R1968K probably benign Het
Cyp27b1 C T 10: 126,886,255 (GRCm39) T312I possibly damaging Het
Cyp39a1 C T 17: 43,987,831 (GRCm39) A99V probably damaging Het
Dipk1a C T 5: 108,057,827 (GRCm39) V199I probably benign Het
Dnaaf9 A G 2: 130,554,380 (GRCm39) S890P probably damaging Het
Efcab3 A T 11: 104,612,018 (GRCm39) D620V probably benign Het
Elapor1 A T 3: 108,375,102 (GRCm39) C588* probably null Het
Erc1 A T 6: 119,801,905 (GRCm39) S37R probably damaging Het
Gm10801 TC TCGAC 2: 98,494,151 (GRCm39) probably benign Het
Gm14443 T C 2: 175,013,644 (GRCm39) I43V possibly damaging Het
Ins2 C T 7: 142,233,134 (GRCm39) R46H probably damaging Het
Krt77 T C 15: 101,769,523 (GRCm39) I413V probably damaging Het
Lpin3 A G 2: 160,745,849 (GRCm39) D660G probably damaging Het
Mpp3 T C 11: 101,901,047 (GRCm39) Q318R probably benign Het
Mpzl2 T C 9: 44,958,503 (GRCm39) S80P probably damaging Het
Mrpl2 T C 17: 46,960,036 (GRCm39) probably null Het
Ndufaf7 C A 17: 79,246,044 (GRCm39) F92L probably damaging Het
Or14c43 T C 7: 86,115,383 (GRCm39) Y255H probably damaging Het
Or6c8 T A 10: 128,915,265 (GRCm39) D189V probably damaging Het
Rec114 T C 9: 58,567,624 (GRCm39) S121G probably benign Het
Rnase10 A T 14: 51,247,317 (GRCm39) I195F probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rreb1 A G 13: 38,133,087 (GRCm39) E1754G probably damaging Het
Sec31a G T 5: 100,531,657 (GRCm39) C238* probably null Het
Slc12a6 T C 2: 112,169,724 (GRCm39) V337A probably damaging Het
Slc25a37 A G 14: 69,482,344 (GRCm39) V319A possibly damaging Het
Slc26a10 T C 10: 127,010,864 (GRCm39) Y456C probably benign Het
Slc27a3 G A 3: 90,294,382 (GRCm39) T463I probably benign Het
Slc66a3 A G 12: 17,043,315 (GRCm39) probably benign Het
Stard9 T A 2: 120,524,149 (GRCm39) D781E probably benign Het
Tle1 T C 4: 72,057,208 (GRCm39) probably benign Het
Tmem229b-ps T C 10: 53,351,325 (GRCm39) noncoding transcript Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r71 A G 7: 85,268,622 (GRCm39) D275G probably benign Het
Wdr1 T C 5: 38,692,543 (GRCm39) T121A probably benign Het
Zdhhc19 C T 16: 32,325,869 (GRCm39) R240C possibly damaging Het
Other mutations in Mrpl48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01637:Mrpl48 APN 7 100,199,739 (GRCm39) splice site probably benign
IGL01838:Mrpl48 APN 7 100,201,860 (GRCm39) missense probably damaging 1.00
IGL02395:Mrpl48 APN 7 100,195,551 (GRCm39) utr 3 prime probably benign
IGL02878:Mrpl48 APN 7 100,223,720 (GRCm39) missense possibly damaging 0.92
R0195:Mrpl48 UTSW 7 100,195,560 (GRCm39) utr 3 prime probably benign
R1498:Mrpl48 UTSW 7 100,195,695 (GRCm39) utr 3 prime probably benign
R1619:Mrpl48 UTSW 7 100,195,482 (GRCm39) utr 3 prime probably benign
R2058:Mrpl48 UTSW 7 100,198,540 (GRCm39) missense probably damaging 1.00
R2059:Mrpl48 UTSW 7 100,198,540 (GRCm39) missense probably damaging 1.00
R2279:Mrpl48 UTSW 7 100,214,471 (GRCm39) missense probably damaging 1.00
R3952:Mrpl48 UTSW 7 100,209,130 (GRCm39) splice site probably benign
R4682:Mrpl48 UTSW 7 100,198,576 (GRCm39) missense probably damaging 0.96
R4887:Mrpl48 UTSW 7 100,195,616 (GRCm39) utr 3 prime probably benign
R5225:Mrpl48 UTSW 7 100,198,535 (GRCm39) missense probably damaging 0.97
R5278:Mrpl48 UTSW 7 100,201,790 (GRCm39) missense probably damaging 1.00
R6209:Mrpl48 UTSW 7 100,209,001 (GRCm39) missense probably damaging 1.00
R6809:Mrpl48 UTSW 7 100,195,574 (GRCm39) utr 3 prime probably benign
R7666:Mrpl48 UTSW 7 100,214,408 (GRCm39) missense probably benign
R8518:Mrpl48 UTSW 7 100,232,269 (GRCm39) start gained probably benign
R8983:Mrpl48 UTSW 7 100,223,702 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTTAAAACCTGGGCTAGATAACT -3'
(R):5'- GGTAAACAATTTTACTTGAAAGGTTGG -3'

Sequencing Primer
(F):5'- ACCTGGGCTAGATAACTTATCAGTGG -3'
(R):5'- AGACCTGGTTAGCCTTGAAC -3'
Posted On 2016-09-06