Incidental Mutation 'IGL02307:Mrpl15'
ID 287635
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrpl15
Ensembl Gene ENSMUSG00000033845
Gene Name mitochondrial ribosomal protein L15
Synonyms HSPC145, MRP-L7, Rpml7
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # IGL02307
Quality Score
Status
Chromosome 1
Chromosomal Location 4843429-4855962 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4854176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 86 (H86Q)
Ref Sequence ENSEMBL: ENSMUSP00000141204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045689] [ENSMUST00000130201] [ENSMUST00000146665] [ENSMUST00000156816]
AlphaFold Q9CPR5
Predicted Effect probably benign
Transcript: ENSMUST00000045689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000115538
Predicted Effect possibly damaging
Transcript: ENSMUST00000130201
AA Change: H86Q

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114649
Gene: ENSMUSG00000033845
AA Change: H86Q

DomainStartEndE-ValueType
Pfam:Ribosomal_L18e 42 176 4.8e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132625
Predicted Effect possibly damaging
Transcript: ENSMUST00000146665
AA Change: H86Q

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141204
Gene: ENSMUSG00000033845
AA Change: H86Q

DomainStartEndE-ValueType
Pfam:Ribosomal_L18e 42 126 6.2e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000156816
AA Change: H86Q

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000115512
Gene: ENSMUSG00000033845
AA Change: H86Q

DomainStartEndE-ValueType
Pfam:Ribosomal_L18e 44 175 5e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192286
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 that belongs to the EcoL15 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 15q. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,935,395 (GRCm39) D323G probably damaging Het
Ankrd28 A G 14: 31,455,665 (GRCm39) C417R probably damaging Het
Astn1 C T 1: 158,502,184 (GRCm39) R1133C probably damaging Het
Bdp1 C A 13: 100,229,946 (GRCm39) G256V probably damaging Het
Cald1 A G 6: 34,730,390 (GRCm39) K252E probably damaging Het
Ccdc141 T C 2: 76,859,686 (GRCm39) E985G probably damaging Het
Cdc23 A G 18: 34,774,442 (GRCm39) I279T possibly damaging Het
Col16a1 C T 4: 129,952,802 (GRCm39) P416L probably damaging Het
Coro1a T C 7: 126,300,736 (GRCm39) D197G probably damaging Het
Ctnnd2 C T 15: 30,647,357 (GRCm39) T351I possibly damaging Het
Fam76b A G 9: 13,755,332 (GRCm39) N313S probably damaging Het
Fbxw20 C A 9: 109,062,601 (GRCm39) W75L possibly damaging Het
Gjd2 T C 2: 113,842,394 (GRCm39) T28A possibly damaging Het
Glyctk A C 9: 106,032,963 (GRCm39) L350R possibly damaging Het
Gm20726 A T 14: 54,870,060 (GRCm39) V237D probably damaging Het
Gm57858 T C 3: 36,073,016 (GRCm39) K422R possibly damaging Het
Gpr22 C A 12: 31,758,739 (GRCm39) C461F possibly damaging Het
Grhl2 A G 15: 37,288,532 (GRCm39) T279A probably damaging Het
Gstm3 G A 3: 107,874,929 (GRCm39) R108C probably damaging Het
Haus6 T C 4: 86,502,072 (GRCm39) T600A possibly damaging Het
Htra4 G A 8: 25,523,710 (GRCm39) A285V probably damaging Het
Igkv14-100 C T 6: 68,496,349 (GRCm39) P81S probably damaging Het
Kif24 T G 4: 41,395,274 (GRCm39) Q533P probably benign Het
Klhl1 A T 14: 96,438,809 (GRCm39) N496K possibly damaging Het
Lama3 G T 18: 12,714,840 (GRCm39) R1667L probably benign Het
Lct T A 1: 128,214,327 (GRCm39) H1815L possibly damaging Het
Mrgprb2 T A 7: 48,202,644 (GRCm39) Y27F probably benign Het
Myo10 C T 15: 25,776,401 (GRCm39) probably benign Het
Nrp1 T C 8: 129,229,201 (GRCm39) L893P probably damaging Het
Or4n4b A C 14: 50,536,295 (GRCm39) I157S probably damaging Het
Or51a8 A T 7: 102,550,086 (GRCm39) N171Y probably benign Het
Ovol1 T A 19: 5,603,643 (GRCm39) D86V possibly damaging Het
Pacs2 T A 12: 113,034,393 (GRCm39) M851K probably damaging Het
Pde1a A T 2: 79,736,412 (GRCm39) M39K possibly damaging Het
Pdpn T C 4: 143,000,550 (GRCm39) H94R possibly damaging Het
Plcg2 T A 8: 118,306,635 (GRCm39) probably null Het
Pzp A T 6: 128,466,049 (GRCm39) Y1210* probably null Het
Rnf148 G T 6: 23,654,890 (GRCm39) S35R probably benign Het
Ros1 A T 10: 52,004,534 (GRCm39) S1008T possibly damaging Het
Rps18-ps6 G T 13: 97,896,871 (GRCm39) Q76K probably benign Het
Sis A T 3: 72,819,167 (GRCm39) probably benign Het
Spag9 T A 11: 93,992,986 (GRCm39) probably null Het
Srbd1 A G 17: 86,433,616 (GRCm39) L327P probably damaging Het
Steap3 A T 1: 120,169,390 (GRCm39) Y264* probably null Het
Swap70 A G 7: 109,880,501 (GRCm39) E572G probably benign Het
Traf7 C A 17: 24,732,020 (GRCm39) C193F possibly damaging Het
Trmt11 T C 10: 30,470,150 (GRCm39) D58G possibly damaging Het
Tsc22d1 T C 14: 76,653,901 (GRCm39) S127P probably damaging Het
Usf1 T A 1: 171,243,314 (GRCm39) S30R probably damaging Het
Ush1c A G 7: 45,846,612 (GRCm39) probably benign Het
Utrn A T 10: 12,625,809 (GRCm39) L124* probably null Het
Vmn2r75 T C 7: 85,814,974 (GRCm39) N173S probably benign Het
Zic2 T C 14: 122,714,046 (GRCm39) V320A possibly damaging Het
Other mutations in Mrpl15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01470:Mrpl15 APN 1 4,846,754 (GRCm39) missense probably damaging 1.00
IGL02390:Mrpl15 APN 1 4,855,837 (GRCm39) missense probably benign 0.01
IGL03054:Mrpl15 UTSW 1 4,855,794 (GRCm39) critical splice donor site probably null
R0730:Mrpl15 UTSW 1 4,847,834 (GRCm39) missense probably damaging 1.00
R1938:Mrpl15 UTSW 1 4,847,805 (GRCm39) missense probably damaging 0.99
R4855:Mrpl15 UTSW 1 4,844,683 (GRCm39) missense probably benign 0.05
R5025:Mrpl15 UTSW 1 4,854,368 (GRCm39) intron probably benign
R5951:Mrpl15 UTSW 1 4,855,956 (GRCm39) utr 5 prime probably benign
R6723:Mrpl15 UTSW 1 4,852,789 (GRCm39) critical splice donor site probably null
R6802:Mrpl15 UTSW 1 4,846,953 (GRCm39) missense probably benign 0.03
R6988:Mrpl15 UTSW 1 4,852,883 (GRCm39) missense probably benign 0.10
R7057:Mrpl15 UTSW 1 4,846,865 (GRCm39) missense probably benign
R7236:Mrpl15 UTSW 1 4,846,711 (GRCm39) missense probably benign
R7573:Mrpl15 UTSW 1 4,847,778 (GRCm39) missense probably damaging 0.98
R7934:Mrpl15 UTSW 1 4,844,725 (GRCm39) missense probably benign
R8830:Mrpl15 UTSW 1 4,852,807 (GRCm39) missense probably damaging 1.00
R9287:Mrpl15 UTSW 1 4,846,856 (GRCm39) missense probably damaging 1.00
R9531:Mrpl15 UTSW 1 4,847,757 (GRCm39) missense probably benign 0.24
Posted On 2015-04-16