Incidental Mutation 'IGL01637:Mrpl48'
ID 93089
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 # IGL01637
Quality Score
Status
Chromosome 7
Chromosomal Location 100194986-100257508 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 100199739 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 benign
Transcript: ENSMUST00000132888
Predicted Effect probably benign
Transcript: ENSMUST00000137777
Predicted Effect probably benign
Transcript: ENSMUST00000138448
Predicted Effect probably benign
Transcript: ENSMUST00000146003
Predicted Effect probably benign
Transcript: ENSMUST00000150042
SMART Domains Protein: ENSMUSP00000116090
Gene: ENSMUSG00000030706

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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,604,109 (GRCm39) I384N probably damaging Het
Adsl G T 15: 80,832,901 (GRCm39) Q51H probably null Het
Apcdd1 A G 18: 63,070,357 (GRCm39) E208G probably damaging Het
Arrdc4 G A 7: 68,394,580 (GRCm39) R155* probably null Het
Atp9b T C 18: 80,799,670 (GRCm39) E823G probably benign Het
Bmp1 A G 14: 70,729,901 (GRCm39) W468R probably damaging Het
C6 A G 15: 4,789,399 (GRCm39) I281M possibly damaging Het
Ccdc88b T C 19: 6,824,078 (GRCm39) T1392A probably benign Het
Dhx34 G T 7: 15,939,398 (GRCm39) S665Y probably damaging Het
Dock1 A T 7: 134,739,542 (GRCm39) probably null Het
Dpp7 T C 2: 25,244,625 (GRCm39) N252S probably benign Het
Dyrk2 A G 10: 118,696,412 (GRCm39) V282A probably damaging Het
Edrf1 T C 7: 133,252,254 (GRCm39) L401P probably damaging Het
Epc1 A G 18: 6,439,724 (GRCm39) V150A probably benign Het
Fam170a A T 18: 50,414,734 (GRCm39) M127L possibly damaging Het
Gabrg1 T A 5: 70,934,548 (GRCm39) T277S probably damaging Het
Galntl5 T C 5: 25,394,823 (GRCm39) probably benign Het
Gbp2b A G 3: 142,304,073 (GRCm39) N56S probably damaging Het
Gfm2 T A 13: 97,286,917 (GRCm39) V172E probably damaging Het
Gm10419 T C 5: 108,520,224 (GRCm39) probably benign Het
Gm7293 A G 9: 51,534,906 (GRCm39) noncoding transcript Het
Gstm3 T C 3: 107,874,949 (GRCm39) E101G probably damaging Het
Ifnlr1 T C 4: 135,413,856 (GRCm39) W2R possibly damaging Het
Ighv13-1 A T 12: 114,231,353 (GRCm39) probably benign Het
Ighv7-1 T A 12: 113,860,123 (GRCm39) I90F possibly damaging Het
Itga2b A G 11: 102,346,409 (GRCm39) L1009P probably damaging Het
Kif1a A G 1: 92,967,575 (GRCm39) V1112A possibly damaging Het
Kif5a A T 10: 127,081,237 (GRCm39) D232E possibly damaging Het
Klb G A 5: 65,533,022 (GRCm39) probably null Het
Lrriq1 G A 10: 103,051,489 (GRCm39) A421V probably benign Het
Mdga1 G A 17: 30,058,845 (GRCm39) R721C probably damaging Het
Myo18b T A 5: 112,988,495 (GRCm39) R1030S possibly damaging Het
Nf1 T A 11: 79,437,946 (GRCm39) H2101Q probably damaging Het
Nlrp3 C A 11: 59,440,204 (GRCm39) L594I probably damaging Het
Notch2 C T 3: 98,053,376 (GRCm39) T2013I probably damaging Het
Or2ah1 A T 2: 85,653,332 (GRCm39) T6S probably benign Het
Or2y3 G A 17: 38,392,994 (GRCm39) L292F possibly damaging Het
Or52s1 C A 7: 102,861,384 (GRCm39) R95S probably benign Het
Or6c216 A G 10: 129,678,479 (GRCm39) L144P probably benign Het
Or7g27 T C 9: 19,250,260 (GRCm39) F168S probably damaging Het
Panx3 T C 9: 37,575,352 (GRCm39) D170G probably damaging Het
Pclo A G 5: 14,590,048 (GRCm39) S783G unknown Het
Pde3b T A 7: 114,126,136 (GRCm39) L790* probably null Het
Pik3r2 T C 8: 71,224,992 (GRCm39) probably benign Het
Rassf4 A G 6: 116,618,651 (GRCm39) F211L probably damaging Het
Rbl2 C T 8: 91,833,066 (GRCm39) P666S probably benign Het
Rnf123 A G 9: 107,935,437 (GRCm39) F979L probably damaging Het
Rock2 T A 12: 17,015,172 (GRCm39) D788E probably benign Het
Serpina3b A G 12: 104,099,216 (GRCm39) T244A probably benign Het
Setd1b T C 5: 123,286,576 (GRCm39) S541P unknown Het
Slc12a4 T C 8: 106,687,339 (GRCm39) D60G possibly damaging Het
Stac2 T C 11: 97,932,180 (GRCm39) E241G probably benign Het
Tafa3 C T 3: 104,680,395 (GRCm39) V75M probably damaging Het
Tas2r115 A G 6: 132,714,592 (GRCm39) Y120H probably damaging Het
Tmtc2 A T 10: 105,205,946 (GRCm39) F450I probably benign Het
Txnl1 A T 18: 63,807,262 (GRCm39) I198N probably damaging Het
Ubr2 A T 17: 47,267,580 (GRCm39) M1049K probably damaging Het
Ugt2b5 T C 5: 87,287,759 (GRCm39) E136G probably benign Het
Unc13b C T 4: 43,241,066 (GRCm39) T3623I probably damaging Het
Usp13 T A 3: 32,973,213 (GRCm39) S797T probably benign Het
Vmn1r173 A T 7: 23,402,373 (GRCm39) T203S probably damaging Het
Vwf T A 6: 125,622,699 (GRCm39) I1718N probably damaging Het
Zfr A G 15: 12,159,732 (GRCm39) H676R probably benign Het
Other mutations in Mrpl48
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-12-09