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 CGI-118, 1810030E20Rik, D4Ertd786e
Accession Numbers
Essential gene? Probably essential (E-score: 0.932) question?
Stock # IGL01637
Quality Score
Chromosome 7
Chromosomal Location 100545751-100608301 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 100550532 bp (GRCm38)
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

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

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: 28,904,684 (GRCm38) I384N probably damaging Het
Adsl G T 15: 80,948,700 (GRCm38) Q51H probably null Het
Apcdd1 A G 18: 62,937,286 (GRCm38) E208G probably damaging Het
Arrdc4 G A 7: 68,744,832 (GRCm38) R155* probably null Het
Atp9b T C 18: 80,756,455 (GRCm38) E823G probably benign Het
Bmp1 A G 14: 70,492,461 (GRCm38) W468R probably damaging Het
C6 A G 15: 4,759,917 (GRCm38) I281M possibly damaging Het
Ccdc88b T C 19: 6,846,710 (GRCm38) T1392A probably benign Het
Dhx34 G T 7: 16,205,473 (GRCm38) S665Y probably damaging Het
Dock1 A T 7: 135,137,813 (GRCm38) probably null Het
Dpp7 T C 2: 25,354,613 (GRCm38) N252S probably benign Het
Dyrk2 A G 10: 118,860,507 (GRCm38) V282A probably damaging Het
Edrf1 T C 7: 133,650,525 (GRCm38) L401P probably damaging Het
Epc1 A G 18: 6,439,724 (GRCm38) V150A probably benign Het
Fam170a A T 18: 50,281,667 (GRCm38) M127L possibly damaging Het
Fam19a3 C T 3: 104,773,079 (GRCm38) V75M probably damaging Het
Gabrg1 T A 5: 70,777,205 (GRCm38) T277S probably damaging Het
Galntl5 T C 5: 25,189,825 (GRCm38) probably benign Het
Gbp2b A G 3: 142,598,312 (GRCm38) N56S probably damaging Het
Gfm2 T A 13: 97,150,409 (GRCm38) V172E probably damaging Het
Gm10419 T C 5: 108,372,358 (GRCm38) probably benign Het
Gm7293 A G 9: 51,623,606 (GRCm38) noncoding transcript Het
Gstm3 T C 3: 107,967,633 (GRCm38) E101G probably damaging Het
Ifnlr1 T C 4: 135,686,545 (GRCm38) W2R possibly damaging Het
Ighv13-1 A T 12: 114,267,733 (GRCm38) probably benign Het
Ighv7-1 T A 12: 113,896,503 (GRCm38) I90F possibly damaging Het
Itga2b A G 11: 102,455,583 (GRCm38) L1009P probably damaging Het
Kif1a A G 1: 93,039,853 (GRCm38) V1112A possibly damaging Het
Kif5a A T 10: 127,245,368 (GRCm38) D232E possibly damaging Het
Klb G A 5: 65,375,679 (GRCm38) probably null Het
Lrriq1 G A 10: 103,215,628 (GRCm38) A421V probably benign Het
Mdga1 G A 17: 29,839,871 (GRCm38) R721C probably damaging Het
Myo18b T A 5: 112,840,629 (GRCm38) R1030S possibly damaging Het
Nf1 T A 11: 79,547,120 (GRCm38) H2101Q probably damaging Het
Nlrp3 C A 11: 59,549,378 (GRCm38) L594I probably damaging Het
Notch2 C T 3: 98,146,060 (GRCm38) T2013I probably damaging Het
Olfr1018 A T 2: 85,822,988 (GRCm38) T6S probably benign Het
Olfr131 G A 17: 38,082,103 (GRCm38) L292F possibly damaging Het
Olfr593 C A 7: 103,212,177 (GRCm38) R95S probably benign Het
Olfr812 A G 10: 129,842,610 (GRCm38) L144P probably benign Het
Olfr845 T C 9: 19,338,964 (GRCm38) F168S probably damaging Het
Panx3 T C 9: 37,664,056 (GRCm38) D170G probably damaging Het
Pclo A G 5: 14,540,034 (GRCm38) S783G unknown Het
Pde3b T A 7: 114,526,901 (GRCm38) L790* probably null Het
Pik3r2 T C 8: 70,772,348 (GRCm38) probably benign Het
Rassf4 A G 6: 116,641,690 (GRCm38) F211L probably damaging Het
Rbl2 C T 8: 91,106,438 (GRCm38) P666S probably benign Het
Rnf123 A G 9: 108,058,238 (GRCm38) F979L probably damaging Het
Rock2 T A 12: 16,965,171 (GRCm38) D788E probably benign Het
Serpina3b A G 12: 104,132,957 (GRCm38) T244A probably benign Het
Setd1b T C 5: 123,148,513 (GRCm38) S541P unknown Het
Slc12a4 T C 8: 105,960,707 (GRCm38) D60G possibly damaging Het
Stac2 T C 11: 98,041,354 (GRCm38) E241G probably benign Het
Tas2r115 A G 6: 132,737,629 (GRCm38) Y120H probably damaging Het
Tmtc2 A T 10: 105,370,085 (GRCm38) F450I probably benign Het
Txnl1 A T 18: 63,674,191 (GRCm38) I198N probably damaging Het
Ubr2 A T 17: 46,956,654 (GRCm38) M1049K probably damaging Het
Ugt2b5 T C 5: 87,139,900 (GRCm38) E136G probably benign Het
Unc13b C T 4: 43,241,066 (GRCm38) T3623I probably damaging Het
Usp13 T A 3: 32,919,064 (GRCm38) S797T probably benign Het
Vmn1r173 A T 7: 23,702,948 (GRCm38) T203S probably damaging Het
Vwf T A 6: 125,645,736 (GRCm38) I1718N probably damaging Het
Zfr A G 15: 12,159,646 (GRCm38) H676R probably benign Het
Other mutations in Mrpl48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01838:Mrpl48 APN 7 100,552,653 (GRCm38) missense probably damaging 1.00
IGL02395:Mrpl48 APN 7 100,546,344 (GRCm38) utr 3 prime probably benign
IGL02878:Mrpl48 APN 7 100,574,513 (GRCm38) missense possibly damaging 0.92
R0195:Mrpl48 UTSW 7 100,546,353 (GRCm38) utr 3 prime probably benign
R1498:Mrpl48 UTSW 7 100,546,488 (GRCm38) utr 3 prime probably benign
R1619:Mrpl48 UTSW 7 100,546,275 (GRCm38) utr 3 prime probably benign
R2058:Mrpl48 UTSW 7 100,549,333 (GRCm38) missense probably damaging 1.00
R2059:Mrpl48 UTSW 7 100,549,333 (GRCm38) missense probably damaging 1.00
R2279:Mrpl48 UTSW 7 100,565,264 (GRCm38) missense probably damaging 1.00
R3952:Mrpl48 UTSW 7 100,559,923 (GRCm38) splice site probably benign
R4682:Mrpl48 UTSW 7 100,549,369 (GRCm38) missense probably damaging 0.96
R4887:Mrpl48 UTSW 7 100,546,409 (GRCm38) utr 3 prime probably benign
R5225:Mrpl48 UTSW 7 100,549,328 (GRCm38) missense probably damaging 0.97
R5278:Mrpl48 UTSW 7 100,552,583 (GRCm38) missense probably damaging 1.00
R5405:Mrpl48 UTSW 7 100,559,793 (GRCm38) missense probably damaging 1.00
R6209:Mrpl48 UTSW 7 100,559,794 (GRCm38) missense probably damaging 1.00
R6809:Mrpl48 UTSW 7 100,546,367 (GRCm38) utr 3 prime probably benign
R7666:Mrpl48 UTSW 7 100,565,201 (GRCm38) missense probably benign
R8518:Mrpl48 UTSW 7 100,583,062 (GRCm38) start gained probably benign
R8983:Mrpl48 UTSW 7 100,574,495 (GRCm38) missense probably benign
Posted On 2013-12-09