Incidental Mutation 'R4935:Mrps30'
ID 380320
Institutional Source Beutler Lab
Gene Symbol Mrps30
Ensembl Gene ENSMUSG00000021731
Gene Name mitochondrial ribosomal protein S30
Synonyms Pdcd9, 2610020A16Rik
MMRRC Submission 042535-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.920) question?
Stock # R4935 (G1)
Quality Score 211
Status Not validated
Chromosome 13
Chromosomal Location 118516646-118523788 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118523431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 114 (F114I)
Ref Sequence ENSEMBL: ENSMUSP00000022245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022245] [ENSMUST00000181168]
AlphaFold Q9D0G0
Predicted Effect possibly damaging
Transcript: ENSMUST00000022245
AA Change: F114I

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022245
Gene: ENSMUSG00000021731
AA Change: F114I

DomainStartEndE-ValueType
Pfam:PDCD9 1 423 1.7e-180 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000181168
AA Change: N31I
SMART Domains Protein: ENSMUSP00000137680
Gene: ENSMUSG00000097411
AA Change: N31I

DomainStartEndE-ValueType
low complexity region 6 27 N/A INTRINSIC
low complexity region 72 88 N/A INTRINSIC
low complexity region 117 125 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225170
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 86.9%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730071L15Rik A G 11: 6,150,442 (GRCm39) *138W probably null Het
Abcb1a T A 5: 8,787,773 (GRCm39) probably null Het
Acp6 T C 3: 97,079,060 (GRCm39) probably null Het
Adcyap1 A T 17: 93,511,541 (GRCm39) I172L probably benign Het
Adgrf1 A C 17: 43,606,130 (GRCm39) I85L probably benign Het
Afdn A T 17: 14,111,228 (GRCm39) T1604S probably benign Het
Angpt2 T C 8: 18,742,131 (GRCm39) Y475C probably damaging Het
Ank2 A G 3: 126,749,713 (GRCm39) S439P probably damaging Het
Ank3 T A 10: 69,812,033 (GRCm39) N366K probably damaging Het
Ankrd11 A G 8: 123,626,922 (GRCm39) S87P probably benign Het
Ano7 T A 1: 93,323,036 (GRCm39) S459T possibly damaging Het
Asxl3 G A 18: 22,656,369 (GRCm39) V1460M probably benign Het
Atg16l1 A C 1: 87,694,764 (GRCm39) N147T possibly damaging Het
Atp10a T C 7: 58,463,512 (GRCm39) V1015A probably damaging Het
Atxn7 T A 14: 14,100,401 (GRCm38) S696T probably benign Het
Babam1 C T 8: 71,852,446 (GRCm39) T184I probably benign Het
Blk A G 14: 63,618,711 (GRCm39) S175P possibly damaging Het
Col5a1 T A 2: 27,914,754 (GRCm39) F123L probably damaging Het
Csmd3 T C 15: 48,024,480 (GRCm39) Y496C probably damaging Het
Dnah3 A T 7: 119,615,700 (GRCm39) Y1676* probably null Het
Fdxacb1 T A 9: 50,683,243 (GRCm39) M402K probably benign Het
Frmd5 A G 2: 121,393,405 (GRCm39) V141A possibly damaging Het
Gapvd1 G A 2: 34,594,504 (GRCm39) R685* probably null Het
Grik2 A G 10: 49,116,826 (GRCm39) L645P probably damaging Het
H2aj T A 6: 136,785,681 (GRCm39) V115E possibly damaging Het
Hrh3 T C 2: 179,743,061 (GRCm39) Y189C probably damaging Het
Kcnc2 A G 10: 112,108,133 (GRCm39) T175A probably benign Het
Kcnv2 A G 19: 27,300,332 (GRCm39) Y61C probably damaging Het
Kif24 T C 4: 41,394,939 (GRCm39) R645G probably damaging Het
Knl1 A G 2: 118,899,438 (GRCm39) I380V possibly damaging Het
Lamb2 A G 9: 108,364,700 (GRCm39) I1151M possibly damaging Het
Leo1 A G 9: 75,353,159 (GRCm39) D234G probably benign Het
Lrp1b T G 2: 41,388,405 (GRCm39) N407H probably benign Het
Matn2 T C 15: 34,428,831 (GRCm39) S732P probably damaging Het
Or1l8 T C 2: 36,817,713 (GRCm39) N138D probably benign Het
Or4f17-ps1 G A 2: 111,357,793 (GRCm39) V45I probably damaging Het
Or5b123 T C 19: 13,597,066 (GRCm39) I180T probably benign Het
Oxr1 T C 15: 41,676,980 (GRCm39) V179A probably benign Het
Plaur A T 7: 24,166,141 (GRCm39) S71C possibly damaging Het
Plbd2 T C 5: 120,624,786 (GRCm39) N461D possibly damaging Het
Plcb2 T A 2: 118,549,396 (GRCm39) Y322F probably damaging Het
Prkab2 T C 3: 97,569,671 (GRCm39) V79A probably damaging Het
Ptpn3 A T 4: 57,197,568 (GRCm39) C774S probably damaging Het
Ring1 A C 17: 34,242,016 (GRCm39) L131R probably benign Het
Rxfp2 G A 5: 149,975,097 (GRCm39) probably null Het
Selenbp1 A T 3: 94,845,269 (GRCm39) I122F probably benign Het
Septin7 A G 9: 25,217,468 (GRCm39) H394R probably benign Het
Slc1a7 G A 4: 107,864,758 (GRCm39) V266I probably damaging Het
Slc2a10 A G 2: 165,359,578 (GRCm39) T481A probably benign Het
Spmap2l T C 5: 77,185,200 (GRCm39) probably null Het
Tapbp A G 17: 34,144,596 (GRCm39) M231V probably benign Het
Tbxas1 A T 6: 38,999,981 (GRCm39) N256I probably benign Het
Uimc1 A G 13: 55,240,998 (GRCm39) I30T probably damaging Het
Usp48 C A 4: 137,377,669 (GRCm39) N231K probably benign Het
Zfhx3 T G 8: 109,674,482 (GRCm39) V1844G possibly damaging Het
Znrf3 A T 11: 5,233,422 (GRCm39) C212S probably damaging Het
Other mutations in Mrps30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01647:Mrps30 APN 13 118,517,146 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TTCACGAGCGTCCTCACTAC -3'
(R):5'- CAGTTGACCTCAAGTTCCGG -3'

Sequencing Primer
(F):5'- GAGCGTCCTCACTACCTGGTC -3'
(R):5'- ATTGTCCCAGAATGCCGCTG -3'
Posted On 2016-04-15