Incidental Mutation 'R8525:Mrps10'
ID 658788
Institutional Source Beutler Lab
Gene Symbol Mrps10
Ensembl Gene ENSMUSG00000034729
Gene Name mitochondrial ribosomal protein S10
Synonyms Rpms10, 1110038B19Rik
MMRRC Submission 067950-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.931) question?
Stock # R8525 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 47679812-47692342 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 47683371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Arginine at position 102 (I102R)
Ref Sequence ENSEMBL: ENSMUSP00000116184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060752] [ENSMUST00000119841] [ENSMUST00000119945] [ENSMUST00000120737] [ENSMUST00000125963]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000060752
SMART Domains Protein: ENSMUSP00000055301
Gene: ENSMUSG00000034729

DomainStartEndE-ValueType
Pfam:Ribosomal_S10 35 133 9.8e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119841
SMART Domains Protein: ENSMUSP00000112740
Gene: ENSMUSG00000034729

DomainStartEndE-ValueType
Pfam:Ribosomal_S10 35 133 9.8e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000119945
AA Change: I23R

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113343
Gene: ENSMUSG00000034729
AA Change: I23R

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:Ribosomal_S10 77 173 3.1e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000120737
AA Change: I23R

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113460
Gene: ENSMUSG00000034729
AA Change: I23R

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:Ribosomal_S10 75 173 1.1e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125963
AA Change: I102R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116184
Gene: ENSMUSG00000034729
AA Change: I102R

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
low complexity region 37 55 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (49/50)
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 belongs to the ribosomal protein S10P family. Pseudogenes corresponding to this gene are found on chromosomes 1q, 3p, and 9p. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik A T 7: 27,255,936 (GRCm39) N8Y possibly damaging Het
4932414N04Rik A T 2: 68,559,378 (GRCm39) D197V possibly damaging Het
Aar2 G A 2: 156,397,837 (GRCm39) R283Q probably benign Het
Acsf2 T A 11: 94,463,446 (GRCm39) I119F probably benign Het
Adamtsl1 C T 4: 86,195,247 (GRCm39) P572S probably damaging Het
Adh5 A T 3: 138,157,095 (GRCm39) I219F probably damaging Het
Arhgap23 T A 11: 97,380,910 (GRCm39) F1098I probably damaging Het
Bicc1 G T 10: 70,779,365 (GRCm39) H674Q possibly damaging Het
Ccdc39 C T 3: 33,868,853 (GRCm39) R786H probably benign Het
Ccr1l1 A G 9: 123,777,589 (GRCm39) I286T possibly damaging Het
Ccr9 T A 9: 123,608,732 (GRCm39) M138K probably benign Het
Dbh T C 2: 27,055,798 (GRCm39) F91L probably benign Het
Dip2a T A 10: 76,110,115 (GRCm39) probably null Het
Eif3j1 A G 2: 121,880,991 (GRCm39) I148V probably damaging Het
Etl4 A G 2: 20,534,892 (GRCm39) R116G probably damaging Het
Exoc6 C A 19: 37,597,440 (GRCm39) Q614K possibly damaging Het
Gabpb1 A G 2: 126,494,194 (GRCm39) S144P possibly damaging Het
Galnt13 G A 2: 54,950,488 (GRCm39) V390M possibly damaging Het
Gimap5 T C 6: 48,729,501 (GRCm39) S24P probably benign Het
Gm4924 T A 10: 82,213,701 (GRCm39) probably benign Het
Gucy1a2 T A 9: 3,865,365 (GRCm39) I613K probably damaging Het
Hsp90ab1 T A 17: 45,880,726 (GRCm39) E115D probably benign Het
Hspg2 T C 4: 137,266,759 (GRCm39) V1949A probably damaging Het
Ice2 A G 9: 69,318,698 (GRCm39) Y294C probably damaging Het
Il17ra T G 6: 120,451,298 (GRCm39) Y157* probably null Het
Ipo13 T C 4: 117,762,126 (GRCm39) E416G probably damaging Het
Large1 C T 8: 73,564,120 (GRCm39) V549M probably damaging Het
Mmp17 A G 5: 129,679,271 (GRCm39) D390G probably damaging Het
Mycbp2 A G 14: 103,450,155 (GRCm39) L1712P probably damaging Het
Nipal2 A G 15: 34,584,815 (GRCm39) M251T probably damaging Het
Nup160 G A 2: 90,548,440 (GRCm39) probably null Het
Or5ac19 A T 16: 59,089,571 (GRCm39) V153D probably benign Het
Or6f2 T C 7: 139,756,255 (GRCm39) I74T probably damaging Het
Pdcd11 G A 19: 47,081,337 (GRCm39) D34N possibly damaging Het
Pigb G T 9: 72,924,809 (GRCm39) P450Q probably damaging Het
Radil A C 5: 142,474,256 (GRCm39) L730R probably damaging Het
Rsbn1 G T 3: 103,821,538 (GRCm39) probably benign Het
Sec24b T C 3: 129,805,467 (GRCm39) D264G probably damaging Het
Shank3 C G 15: 89,431,973 (GRCm39) S906C probably damaging Het
Slc1a3 A G 15: 8,672,459 (GRCm39) V340A possibly damaging Het
Slc1a3 A T 15: 8,680,423 (GRCm39) I145N possibly damaging Het
Slc35f4 A T 14: 49,541,681 (GRCm39) S208T possibly damaging Het
Spopfm1 A G 3: 94,173,862 (GRCm39) N290S probably benign Het
Tmem132b A G 5: 125,715,380 (GRCm39) D363G probably benign Het
Tox3 T G 8: 91,001,309 (GRCm39) N34T probably damaging Het
Vmn1r231 T A 17: 21,110,001 (GRCm39) I305L probably benign Het
Vps18 A G 2: 119,120,711 (GRCm39) I57V possibly damaging Het
Zfhx4 T G 3: 5,464,603 (GRCm39) L1587R probably damaging Het
Zfp112 A G 7: 23,825,322 (GRCm39) N430S probably benign Het
Other mutations in Mrps10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02536:Mrps10 APN 17 47,685,928 (GRCm39) missense probably damaging 1.00
BB001:Mrps10 UTSW 17 47,689,208 (GRCm39) makesense probably null
BB011:Mrps10 UTSW 17 47,689,208 (GRCm39) makesense probably null
R0746:Mrps10 UTSW 17 47,683,564 (GRCm39) missense probably benign 0.36
R1872:Mrps10 UTSW 17 47,683,377 (GRCm39) missense possibly damaging 0.82
R4429:Mrps10 UTSW 17 47,689,124 (GRCm39) splice site probably null
R5617:Mrps10 UTSW 17 47,689,167 (GRCm39) missense probably benign 0.19
R6752:Mrps10 UTSW 17 47,688,740 (GRCm39) missense probably damaging 1.00
R7131:Mrps10 UTSW 17 47,685,940 (GRCm39) missense probably damaging 0.98
R7385:Mrps10 UTSW 17 47,689,146 (GRCm39) missense probably damaging 1.00
R7924:Mrps10 UTSW 17 47,689,208 (GRCm39) makesense probably null
R9324:Mrps10 UTSW 17 47,686,903 (GRCm39) nonsense probably null
R9752:Mrps10 UTSW 17 47,683,572 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GCAAAGAGTAACTCATGTACACAT -3'
(R):5'- CCACATGCAGGTTTGACAGTG -3'

Sequencing Primer
(F):5'- TCGAACTCAGAGATTCGCTG -3'
(R):5'- AGGTTTGACAGTGGCACC -3'
Posted On 2021-01-18