Incidental Mutation 'R5278:Mrpl48'
ID 404054
Institutional Source Beutler Lab
Gene Symbol Mrpl48
Ensembl Gene ENSMUSG00000030706
Gene Name mitochondrial ribosomal protein L48
Synonyms 1810030E20Rik, D4Ertd786e, CGI-118
MMRRC Submission 042865-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.886) question?
Stock # R5278 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 100194986-100257508 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100201790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 156 (V156A)
Ref Sequence ENSEMBL: ENSMUSP00000116090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064334] [ENSMUST00000107053] [ENSMUST00000132888] [ENSMUST00000137777] [ENSMUST00000138448] [ENSMUST00000146003] [ENSMUST00000150042]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000064334
SMART Domains Protein: ENSMUSP00000067290
Gene: ENSMUSG00000030706

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
low complexity region 71 76 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107053
Predicted Effect probably damaging
Transcript: ENSMUST00000132888
AA Change: V58A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000137777
AA Change: V58A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000138448
Predicted Effect probably damaging
Transcript: ENSMUST00000146003
AA Change: V58A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000150042
AA Change: V156A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116090
Gene: ENSMUSG00000030706
AA Change: V156A

DomainStartEndE-ValueType
low complexity region 62 74 N/A INTRINSIC
Pfam:Ribosomal_S10 91 186 2.6e-16 PFAM
Meta Mutation Damage Score 0.7950 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.9%
  • 20x: 96.6%
Validation Efficiency 98% (50/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 C T 5: 35,745,500 (GRCm39) probably benign Het
Acvr2b G A 9: 119,261,555 (GRCm39) V383I probably damaging Het
Akap12 T C 10: 4,304,792 (GRCm39) M534T probably benign Het
Akp3 G A 1: 87,052,888 (GRCm39) E26K probably benign Het
Alcam A G 16: 52,094,638 (GRCm39) I371T probably benign Het
Ap2a1 T C 7: 44,552,203 (GRCm39) T794A probably benign Het
Apeh G A 9: 107,968,457 (GRCm39) P349S probably benign Het
Asb7 G T 7: 66,328,933 (GRCm39) Q36K possibly damaging Het
Asl A G 5: 130,047,672 (GRCm39) probably null Het
Atp13a2 T A 4: 140,728,129 (GRCm39) I574N probably damaging Het
Bcl2l2 T A 14: 55,122,251 (GRCm39) I138N probably damaging Het
Cacna1d C T 14: 30,074,881 (GRCm39) probably null Het
Ccdc9 C T 7: 16,012,306 (GRCm39) W1* probably null Het
Cdh18 T A 15: 23,474,244 (GRCm39) S705T probably benign Het
Ces5a A T 8: 94,252,266 (GRCm39) W209R probably damaging Het
Chpf2 T A 5: 24,793,088 (GRCm39) probably benign Het
Cul9 T A 17: 46,821,799 (GRCm39) H1892L probably damaging Het
Cxcl13 A G 5: 96,106,586 (GRCm39) T53A probably benign Het
Cyp2s1 T A 7: 25,505,309 (GRCm39) Y385F possibly damaging Het
Ddx46 A G 13: 55,823,851 (GRCm39) E915G probably damaging Het
Elovl3 G A 19: 46,122,540 (GRCm39) V113I probably benign Het
Fam53c A T 18: 34,895,671 (GRCm39) probably benign Het
Fbxw15 A T 9: 109,384,752 (GRCm39) F349L probably benign Het
Fuz C T 7: 44,545,701 (GRCm39) P9L probably benign Het
Igf1r C T 7: 67,843,166 (GRCm39) T759M possibly damaging Het
Impg2 G A 16: 56,041,880 (GRCm39) D175N probably benign Het
Jade1 G T 3: 41,543,444 (GRCm39) R43L possibly damaging Het
Kntc1 A G 5: 123,919,077 (GRCm39) E816G probably damaging Het
Mettl8 A T 2: 70,803,641 (GRCm39) D262E probably damaging Het
Mst1 A C 9: 107,959,414 (GRCm39) K233N probably damaging Het
Myh13 A G 11: 67,225,390 (GRCm39) I252V probably benign Het
Nox4 T C 7: 87,021,134 (GRCm39) W449R probably damaging Het
Or2a52 T C 6: 43,144,655 (GRCm39) L221P probably damaging Het
Or2l5 A T 16: 19,334,128 (GRCm39) L86* probably null Het
Pank4 T C 4: 155,056,622 (GRCm39) L351P probably damaging Het
Pappa2 A T 1: 158,609,973 (GRCm39) probably null Het
Peg10 CCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATCC CCATCAGGATGCACATCAGGATCC 6: 4,756,442 (GRCm39) probably benign Het
Polr3e T A 7: 120,522,184 (GRCm39) I10K possibly damaging Het
Prkdc T C 16: 15,532,838 (GRCm39) I1489T probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sh3pxd2b A G 11: 32,331,447 (GRCm39) D57G probably damaging Het
Shank2 G A 7: 143,622,612 (GRCm39) probably null Het
Slc15a4 A T 5: 127,694,033 (GRCm39) V134E probably damaging Het
Slc49a4 A G 16: 35,518,358 (GRCm39) S452P probably damaging Het
Stxbp5l G T 16: 37,007,016 (GRCm39) Q726K probably benign Het
Tesk2 T G 4: 116,663,133 (GRCm39) probably benign Het
Tex2 A G 11: 106,458,639 (GRCm39) S264P probably benign Het
Tnik A G 3: 28,704,209 (GRCm39) Q1003R probably damaging Het
Trip12 C T 1: 84,739,868 (GRCm39) R628H probably damaging Het
Vmn2r69 G A 7: 85,060,991 (GRCm39) H198Y probably benign 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
R5405:Mrpl48 UTSW 7 100,209,000 (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'- GGAATGCAGACATCATTTAAGGC -3'
(R):5'- CCGATGACCCTGGTTAAAGTG -3'

Sequencing Primer
(F):5'- TTCTCAACCTGGGAGTTGAGACC -3'
(R):5'- ACCCTGGTTAAAGTGGTGCTG -3'
Posted On 2016-07-22