Incidental Mutation 'IGL01838:Mrpl48'
ID 155036
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01838
Quality Score
Status
Chromosome 7
Chromosomal Location 100194986-100257508 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100201860 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 35 (V35M)
Ref Sequence ENSEMBL: ENSMUSP00000146371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107053] [ENSMUST00000132888] [ENSMUST00000137777] [ENSMUST00000138448] [ENSMUST00000146003] [ENSMUST00000150042]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000107053
Predicted Effect probably damaging
Transcript: ENSMUST00000132888
AA Change: V35M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000137777
AA Change: V35M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000138448
AA Change: V35M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000146003
AA Change: V35M

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000150042
AA Change: V133M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116090
Gene: ENSMUSG00000030706
AA Change: V133M

DomainStartEndE-ValueType
low complexity region 62 74 N/A INTRINSIC
Pfam:Ribosomal_S10 91 186 2.6e-16 PFAM
Coding Region Coverage
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c6 T C 13: 4,499,035 (GRCm39) S208P probably benign Het
Cpe G T 8: 65,047,998 (GRCm39) T422K possibly damaging Het
Dis3l C A 9: 64,215,581 (GRCm39) V888L probably benign Het
Dnah7b T A 1: 46,397,297 (GRCm39) Y3909* probably null Het
Dnajb8 G A 6: 88,200,033 (GRCm39) V190M possibly damaging Het
Grip2 A G 6: 91,741,744 (GRCm39) V927A possibly damaging Het
Hyal3 C T 9: 107,463,786 (GRCm39) R304C possibly damaging Het
Igkv8-21 A G 6: 70,292,009 (GRCm39) S78P probably damaging Het
Lrrc7 A G 3: 157,891,100 (GRCm39) S356P probably damaging Het
Meiob T C 17: 25,042,643 (GRCm39) V157A possibly damaging Het
Myo9b T C 8: 71,787,034 (GRCm39) Y739H probably damaging Het
Nfyb A G 10: 82,586,642 (GRCm39) L174S probably benign Het
Prm2 T C 16: 10,609,672 (GRCm39) probably benign Het
Prss50 T C 9: 110,693,560 (GRCm39) L432P probably benign Het
Raly T A 2: 154,701,590 (GRCm39) probably benign Het
Scn11a A T 9: 119,587,649 (GRCm39) M1365K probably damaging Het
Slc28a2b C A 2: 122,348,464 (GRCm39) F270L possibly damaging Het
Spred1 T G 2: 117,008,062 (GRCm39) S323A probably benign Het
Svep1 T C 4: 58,121,910 (GRCm39) E761G possibly damaging Het
Thbs3 A T 3: 89,126,365 (GRCm39) K229* probably null Het
Thoc1 G A 18: 9,993,386 (GRCm39) G582S possibly damaging Het
Tmpo G A 10: 90,999,104 (GRCm39) R228C probably benign Het
Vmn2r114 T C 17: 23,515,956 (GRCm39) T512A probably benign Het
Wee1 T C 7: 109,723,744 (GRCm39) S220P probably benign Het
Other mutations in Mrpl48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01637:Mrpl48 APN 7 100,199,739 (GRCm39) splice site probably benign
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
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
Posted On 2014-02-04