Incidental Mutation 'R5225:Mrpl48'
ID 402554
Institutional Source Beutler Lab
Gene Symbol Mrpl48
Ensembl Gene ENSMUSG00000030706
Gene Name mitochondrial ribosomal protein L48
Synonyms 1810030E20Rik, D4Ertd786e, CGI-118
MMRRC Submission 042798-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.886) question?
Stock # R5225 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 100194986-100257508 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 100198535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 206 (L206V)
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

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 benign
Transcript: ENSMUST00000132888
Predicted Effect probably benign
Transcript: ENSMUST00000137777
Predicted Effect probably benign
Transcript: ENSMUST00000138448
Predicted Effect possibly damaging
Transcript: ENSMUST00000146003
AA Change: L108V

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000150042
AA Change: L206V

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000116090
Gene: ENSMUSG00000030706
AA Change: L206V

low complexity region 62 74 N/A INTRINSIC
Pfam:Ribosomal_S10 91 186 2.6e-16 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (70/70)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik C T 17: 9,226,839 (GRCm39) R465* probably null Het
Abcg3 A T 5: 105,114,649 (GRCm39) D289E probably damaging Het
Ablim2 G T 5: 36,024,115 (GRCm39) probably null Het
Acp1 A T 12: 30,955,078 (GRCm39) V36D probably benign Het
Adgrb1 T A 15: 74,449,348 (GRCm39) probably benign Het
Akap6 G A 12: 52,933,329 (GRCm39) V274I probably damaging Het
Arhgap39 T C 15: 76,609,715 (GRCm39) probably benign Het
Bmp1 G A 14: 70,717,605 (GRCm39) R789W probably damaging Het
Catspere2 A T 1: 177,976,474 (GRCm39) probably benign Het
Cfhr2 T A 1: 139,749,520 (GRCm39) Y154F possibly damaging Het
Cilp2 T C 8: 70,336,015 (GRCm39) Y358C probably damaging Het
Cyp1a2 T A 9: 57,584,516 (GRCm39) K513* probably null Het
Dennd4a G T 9: 64,796,210 (GRCm39) K745N possibly damaging Het
Dlg1 T A 16: 31,655,085 (GRCm39) S542T probably benign Het
Dmbt1 A T 7: 130,696,465 (GRCm39) I893F possibly damaging Het
Dnhd1 A T 7: 105,353,130 (GRCm39) E2761V possibly damaging Het
F11 T C 8: 45,708,341 (GRCm39) T40A probably benign Het
Fam227a T C 15: 79,520,936 (GRCm39) D296G possibly damaging Het
Fance C T 17: 28,534,589 (GRCm39) probably benign Het
Gaa A G 11: 119,167,669 (GRCm39) D149G probably damaging Het
Gapt A G 13: 110,490,522 (GRCm39) M47T possibly damaging Het
Gm1110 T C 9: 26,813,774 (GRCm39) N202D probably damaging Het
Gm7535 T C 17: 18,131,809 (GRCm39) probably benign Het
Gm973 T A 1: 59,601,859 (GRCm39) M491K probably benign Het
Gmnc A G 16: 26,782,695 (GRCm39) V27A probably benign Het
Kif27 T C 13: 58,440,915 (GRCm39) T1167A possibly damaging Het
Klrg1 T A 6: 122,248,331 (GRCm39) *189C probably null Het
Lime1 T A 2: 181,024,640 (GRCm39) M98K probably benign Het
Lrp1 C A 10: 127,391,965 (GRCm39) A2867S probably benign Het
Lrrd1 G A 5: 3,908,735 (GRCm39) S669N probably benign Het
Mmel1 A G 4: 154,976,456 (GRCm39) N520S probably damaging Het
Nagpa C T 16: 5,021,596 (GRCm39) A52T probably benign Het
Or1o3 A G 17: 37,573,919 (GRCm39) V212A probably benign Het
Or4c3 T G 2: 89,851,528 (GRCm39) D294A probably benign Het
Orai2 A G 5: 136,190,355 (GRCm39) S71P probably damaging Het
Pcbp1 A T 6: 86,502,209 (GRCm39) I230N probably damaging Het
Pcdh15 T C 10: 74,138,986 (GRCm39) L349P probably damaging Het
Pcdhb16 T C 18: 37,613,011 (GRCm39) V657A probably benign Het
Prdm15 G T 16: 97,609,875 (GRCm39) H590N probably damaging Het
Psg18 T C 7: 18,079,874 (GRCm39) I442M probably damaging Het
Pygm C A 19: 6,439,494 (GRCm39) D279E probably benign Het
Rrn3 T A 16: 13,610,798 (GRCm39) probably null Het
Sass6 T C 3: 116,407,702 (GRCm39) S273P possibly damaging Het
Schip1 A G 3: 68,402,270 (GRCm39) M116V probably benign Het
Sdc3 G A 4: 130,546,087 (GRCm39) V55I unknown Het
Serpinb8 T A 1: 107,525,201 (GRCm39) M1K probably null Het
Slc24a5 T C 2: 124,927,739 (GRCm39) I346T probably damaging Het
Slc35f3 T A 8: 127,117,846 (GRCm39) I335N probably damaging Het
Snapc2 T A 8: 4,305,299 (GRCm39) V147E probably damaging Het
Snx2 T C 18: 53,322,784 (GRCm39) S56P possibly damaging Het
Sptbn5 A G 2: 119,915,812 (GRCm39) probably benign Het
Stk19 A T 17: 35,040,400 (GRCm39) probably benign Het
Sulf1 A G 1: 12,911,702 (GRCm39) E692G probably benign Het
Tet1 C T 10: 62,674,450 (GRCm39) V1209I probably damaging Het
Tln1 T C 4: 43,539,406 (GRCm39) T1639A probably benign Het
Tmem135 G T 7: 88,845,335 (GRCm39) Y165* probably null Het
Tmprss6 T C 15: 78,336,707 (GRCm39) T398A probably damaging Het
Ube4a C T 9: 44,851,258 (GRCm39) probably null Het
Vmn1r227 T C 17: 20,955,499 (GRCm39) noncoding transcript Het
Wdhd1 T C 14: 47,488,273 (GRCm39) S745G probably benign Het
Xylt1 A G 7: 117,191,263 (GRCm39) H353R probably damaging Het
Zfp788 A G 7: 41,298,980 (GRCm39) T539A probably benign Het
Zfp866 A T 8: 70,218,091 (GRCm39) F510I 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
R5278:Mrpl48 UTSW 7 100,201,790 (GRCm39) missense probably damaging 1.00
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

Sequencing Primer
Posted On 2016-07-22