Incidental Mutation 'R6752:Mrps10'
ID 530860
Institutional Source Beutler Lab
Gene Symbol Mrps10
Ensembl Gene ENSMUSG00000034729
Gene Name mitochondrial ribosomal protein S10
Synonyms Rpms10, 1110038B19Rik
MMRRC Submission 044869-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.931) question?
Stock # R6752 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 47679812-47692342 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47688740 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 162 (N162S)
Ref Sequence ENSEMBL: ENSMUSP00000113460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060752] [ENSMUST00000119841] [ENSMUST00000119945] [ENSMUST00000120737] [ENSMUST00000125963]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000060752
AA Change: N122S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055301
Gene: ENSMUSG00000034729
AA Change: N122S

DomainStartEndE-ValueType
Pfam:Ribosomal_S10 35 133 9.8e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119841
AA Change: N122S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112740
Gene: ENSMUSG00000034729
AA Change: N122S

DomainStartEndE-ValueType
Pfam:Ribosomal_S10 35 133 9.8e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119945
AA Change: N163S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113343
Gene: ENSMUSG00000034729
AA Change: N163S

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:Ribosomal_S10 77 173 3.1e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120737
AA Change: N162S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113460
Gene: ENSMUSG00000034729
AA Change: N162S

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:Ribosomal_S10 75 173 1.1e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125963
SMART Domains Protein: ENSMUSP00000116184
Gene: ENSMUSG00000034729

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
low complexity region 37 55 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136061
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154039
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143725
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152497
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 98% (55/56)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,086,309 (GRCm39) L45S probably benign Het
Agbl2 G A 2: 90,633,418 (GRCm39) C518Y probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Aox1 T C 1: 58,086,398 (GRCm39) I101T probably benign Het
Arhgap23 T C 11: 97,343,074 (GRCm39) F241S probably damaging Het
Asmt A G X: 169,110,096 (GRCm39) M202V probably benign Het
Atp6v0a2 A G 5: 124,779,452 (GRCm39) E189G probably damaging Het
Birc2 G A 9: 7,857,345 (GRCm39) A376V probably benign Het
Ccbe1 C T 18: 66,209,378 (GRCm39) probably null Het
Chst2 C A 9: 95,286,802 (GRCm39) E515* probably null Het
Col12a1 A T 9: 79,540,706 (GRCm39) N2426K possibly damaging Het
Dmrt2 A G 19: 25,655,706 (GRCm39) N435S probably damaging Het
Dnah14 A G 1: 181,421,017 (GRCm39) K123E probably benign Het
Dock4 T A 12: 40,870,616 (GRCm39) L1452Q probably damaging Het
Galnt7 G A 8: 58,105,985 (GRCm39) R10C probably damaging Het
Gm16506 A G 14: 43,964,876 (GRCm39) I22T unknown Het
H2-Q6 A G 17: 35,647,103 (GRCm39) T292A probably damaging Het
Ifne A G 4: 88,798,319 (GRCm39) M33T probably benign Het
Igf2r G A 17: 12,933,831 (GRCm39) R808W probably damaging Het
Igfbp5 T C 1: 72,903,068 (GRCm39) E169G probably damaging Het
Inppl1 G A 7: 101,481,749 (GRCm39) R198* probably null Het
Irgm1 T C 11: 48,757,290 (GRCm39) T174A probably damaging Het
Itih3 C T 14: 30,645,446 (GRCm39) G21S possibly damaging Het
Klra4 G T 6: 130,038,991 (GRCm39) Q134K probably benign Het
Mfsd1 T A 3: 67,503,936 (GRCm39) Y309* probably null Het
Mtmr14 T C 6: 113,217,358 (GRCm39) F90S probably damaging Het
Myh15 A G 16: 49,003,290 (GRCm39) D1783G probably damaging Het
Myo3b A G 2: 70,119,856 (GRCm39) E972G probably damaging Het
Myt1 G T 2: 181,442,875 (GRCm39) V455F probably damaging Het
Nbea A T 3: 55,944,640 (GRCm39) S575T probably benign Het
Nbea T A 3: 55,875,730 (GRCm39) T1647S probably benign Het
Ntn4 A G 10: 93,570,037 (GRCm39) N466S probably benign Het
Or10ag52 A G 2: 87,043,388 (GRCm39) M51V probably benign Het
Or5b114-ps1 T A 19: 13,352,890 (GRCm39) L188H unknown Het
Or5h27 T A 16: 59,006,694 (GRCm39) N51Y probably damaging Het
Pcdhgb4 T A 18: 37,853,704 (GRCm39) I33N probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Pom121l2 T G 13: 22,165,939 (GRCm39) F70C probably damaging Het
Psmb5 T C 14: 54,854,212 (GRCm39) T89A probably benign Het
Rab11fip2 T C 19: 59,895,475 (GRCm39) D471G probably damaging Het
Rnh1 A G 7: 140,743,354 (GRCm39) V207A probably benign Het
Sh3tc2 C A 18: 62,094,108 (GRCm39) T49N probably benign Het
Skint4 T C 4: 111,977,060 (GRCm39) M158T possibly damaging Het
Skint7 T A 4: 111,837,463 (GRCm39) H80Q probably benign Het
Smg1 A G 7: 117,762,539 (GRCm39) probably benign Het
Sostdc1 T C 12: 36,364,411 (GRCm39) V40A probably benign Het
Sptlc1 C A 13: 53,489,394 (GRCm39) K437N possibly damaging Het
Stat2 T C 10: 128,119,622 (GRCm39) F503L probably damaging Het
Syt16 A T 12: 74,275,987 (GRCm39) probably null Het
Tspyl1 T C 10: 34,158,583 (GRCm39) S103P probably benign Het
Ube4a A T 9: 44,837,246 (GRCm39) S1053R probably damaging Het
Vipr1 A G 9: 121,482,959 (GRCm39) N58S probably damaging Het
Zfp184 C A 13: 22,143,578 (GRCm39) A428E probably damaging Het
Zfp292 A C 4: 34,808,593 (GRCm39) F1484V possibly damaging Het
Zfp599 G A 9: 22,160,840 (GRCm39) H442Y probably damaging Het
Zfp944 G A 17: 22,558,500 (GRCm39) T249I probably benign Het
Zkscan14 T A 5: 145,132,316 (GRCm39) H405L probably damaging 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
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
R8525:Mrps10 UTSW 17 47,683,371 (GRCm39) missense probably damaging 1.00
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'- ACTGAGCAGTGTTTTGGCC -3'
(R):5'- TAGGGAGACTTCTAAGGTGGCTC -3'

Sequencing Primer
(F):5'- TGCCCTGGAATTGAAGTCAG -3'
(R):5'- CTTCTAAGGTGGCTCAGTGAGAAC -3'
Posted On 2018-08-01