Incidental Mutation 'IGL01647:Mrps30'
ID 102708
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrps30
Ensembl Gene ENSMUSG00000021731
Gene Name mitochondrial ribosomal protein S30
Synonyms Pdcd9, 2610020A16Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.920) question?
Stock # IGL01647
Quality Score
Status
Chromosome 13
Chromosomal Location 118516646-118523788 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 118517146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 358 (G358R)
Ref Sequence ENSEMBL: ENSMUSP00000022245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022245]
AlphaFold Q9D0G0
Predicted Effect probably damaging
Transcript: ENSMUST00000022245
AA Change: G358R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022245
Gene: ENSMUSG00000021731
AA Change: G358R

DomainStartEndE-ValueType
Pfam:PDCD9 1 423 1.7e-180 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225170
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 28S subunit protein that is similar to the chicken pro-apoptotic protein p52. Transcript variants using alternative promoters or polyA sites have been mentioned in the literature but the complete description of these sequences is not available. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T A 2: 35,266,097 (GRCm39) D191V probably damaging Het
Adcy6 T C 15: 98,498,156 (GRCm39) D382G probably damaging Het
Arhgef33 A T 17: 80,672,695 (GRCm39) probably benign Het
Armc10 A G 5: 21,851,091 (GRCm39) probably benign Het
Bcas1 T A 2: 170,191,172 (GRCm39) Q586L probably damaging Het
Bltp3b T C 10: 89,609,982 (GRCm39) probably null Het
Ccdc88a A C 11: 29,454,321 (GRCm39) probably benign Het
Cep250 T A 2: 155,825,296 (GRCm39) C1057S probably benign Het
Ctsm A T 13: 61,688,087 (GRCm39) M14K probably benign Het
Dpy19l1 C T 9: 24,396,365 (GRCm39) R117Q probably damaging Het
Frem1 A G 4: 82,868,593 (GRCm39) Y1463H possibly damaging Het
Garin3 G T 11: 46,296,224 (GRCm39) E199* probably null Het
Gck A T 11: 5,854,472 (GRCm39) M251K probably damaging Het
Gzf1 C T 2: 148,525,570 (GRCm39) P14S probably damaging Het
Iws1 A T 18: 32,230,275 (GRCm39) K748* probably null Het
Kif15 T A 9: 122,792,536 (GRCm39) probably benign Het
Ly6g6f A G 17: 35,299,817 (GRCm39) probably benign Het
Nfrkb T A 9: 31,307,801 (GRCm39) probably benign Het
Or5m3b C T 2: 85,872,441 (GRCm39) P261S probably damaging Het
Pakap A T 4: 57,688,477 (GRCm39) I107F possibly damaging Het
Pcnt T A 10: 76,205,835 (GRCm39) K2506* probably null Het
Pgc G T 17: 48,043,329 (GRCm39) G226W probably damaging Het
Pip5k1a C T 3: 94,981,383 (GRCm39) V82M probably damaging Het
Plk3 A G 4: 116,987,554 (GRCm39) V466A probably damaging Het
Prss44 C A 9: 110,643,745 (GRCm39) Q130K probably damaging Het
Rbck1 T C 2: 152,165,152 (GRCm39) Y66C probably damaging Het
Rbm6 T C 9: 107,730,081 (GRCm39) E189G probably benign Het
Rtn4r G T 16: 17,969,190 (GRCm39) R206L probably damaging Het
Ryr2 C T 13: 11,600,366 (GRCm39) G4613E probably damaging Het
Sema5a T G 15: 32,417,587 (GRCm39) L19R possibly damaging Het
Slc30a5 T C 13: 100,957,653 (GRCm39) T139A possibly damaging Het
Slco2a1 T G 9: 102,947,495 (GRCm39) S265A possibly damaging Het
Smad4 A G 18: 73,773,544 (GRCm39) probably benign Het
St13 C T 15: 81,255,708 (GRCm39) R240Q probably damaging Het
Tcea3 A C 4: 136,002,087 (GRCm39) probably benign Het
Vmn1r177 T C 7: 23,565,600 (GRCm39) Y92C probably damaging Het
Wnt8b A T 19: 44,499,704 (GRCm39) D151V probably damaging Het
Zfp426 T A 9: 20,389,453 (GRCm39) M1L possibly damaging Het
Other mutations in Mrps30
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0030:Mrps30 UTSW 13 118,519,531 (GRCm39) missense possibly damaging 0.94
R2439:Mrps30 UTSW 13 118,521,808 (GRCm39) missense probably damaging 1.00
R2764:Mrps30 UTSW 13 118,521,124 (GRCm39) missense probably benign 0.03
R4030:Mrps30 UTSW 13 118,517,077 (GRCm39) missense probably damaging 1.00
R4231:Mrps30 UTSW 13 118,523,376 (GRCm39) missense probably damaging 0.98
R4232:Mrps30 UTSW 13 118,523,376 (GRCm39) missense probably damaging 0.98
R4234:Mrps30 UTSW 13 118,523,376 (GRCm39) missense probably damaging 0.98
R4235:Mrps30 UTSW 13 118,523,376 (GRCm39) missense probably damaging 0.98
R4236:Mrps30 UTSW 13 118,523,376 (GRCm39) missense probably damaging 0.98
R4625:Mrps30 UTSW 13 118,523,250 (GRCm39) missense probably benign 0.14
R4935:Mrps30 UTSW 13 118,523,431 (GRCm39) missense possibly damaging 0.82
R5363:Mrps30 UTSW 13 118,523,698 (GRCm39) missense probably benign 0.39
R5986:Mrps30 UTSW 13 118,521,101 (GRCm39) critical splice donor site probably null
R6566:Mrps30 UTSW 13 118,523,662 (GRCm39) missense probably benign 0.00
R6681:Mrps30 UTSW 13 118,517,134 (GRCm39) missense probably damaging 0.98
R6694:Mrps30 UTSW 13 118,523,497 (GRCm39) missense possibly damaging 0.82
R6699:Mrps30 UTSW 13 118,517,134 (GRCm39) missense probably damaging 0.98
R6700:Mrps30 UTSW 13 118,517,134 (GRCm39) missense probably damaging 0.98
R6788:Mrps30 UTSW 13 118,516,908 (GRCm39) missense probably benign 0.06
R8788:Mrps30 UTSW 13 118,523,538 (GRCm39) missense possibly damaging 0.86
R8905:Mrps30 UTSW 13 118,523,479 (GRCm39) missense probably benign
R8914:Mrps30 UTSW 13 118,523,755 (GRCm39) missense possibly damaging 0.52
R8927:Mrps30 UTSW 13 118,523,205 (GRCm39) missense probably damaging 1.00
R8928:Mrps30 UTSW 13 118,523,205 (GRCm39) missense probably damaging 1.00
R8930:Mrps30 UTSW 13 118,523,695 (GRCm39) missense probably benign
R8932:Mrps30 UTSW 13 118,523,695 (GRCm39) missense probably benign
Posted On 2014-01-21