Incidental Mutation 'R2344:Rps10'
ID 245940
Institutional Source Beutler Lab
Gene Symbol Rps10
Ensembl Gene ENSMUSG00000052146
Gene Name ribosomal protein S10
Synonyms 2210402A09Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R2344 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 27849389-27854218 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 27853081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Proline at position 96 (R96P)
Ref Sequence ENSEMBL: ENSMUSP00000136042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025052] [ENSMUST00000114881] [ENSMUST00000114882] [ENSMUST00000152982] [ENSMUST00000178774] [ENSMUST00000155071]
AlphaFold P63325
Predicted Effect probably benign
Transcript: ENSMUST00000025052
AA Change: R96P

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000025052
Gene: ENSMUSG00000052146
AA Change: R96P

DomainStartEndE-ValueType
Pfam:S10_plectin 3 101 1.2e-48 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114881
AA Change: R96P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110531
Gene: ENSMUSG00000052146
AA Change: R96P

DomainStartEndE-ValueType
Pfam:S10_plectin 3 101 1.3e-48 PFAM
low complexity region 150 165 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114882
AA Change: R96P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110532
Gene: ENSMUSG00000052146
AA Change: R96P

DomainStartEndE-ValueType
Pfam:S10_plectin 3 98 2.3e-52 PFAM
low complexity region 150 165 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133274
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150763
Predicted Effect possibly damaging
Transcript: ENSMUST00000152982
AA Change: R96P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000178774
AA Change: R96P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000136042
Gene: ENSMUSG00000052146
AA Change: R96P

DomainStartEndE-ValueType
Pfam:S10_plectin 3 101 1.3e-48 PFAM
low complexity region 150 165 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155071
AA Change: R96P

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternate splicing results in multiple transcript variants that encode the same protein. Naturally occurring read-through transcription occurs between this locus and the neighboring locus NUDT3 (nudix (nucleoside diphosphate linked moiety X)-type motif 3).[provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid4b A G 13: 14,328,075 (GRCm39) Q247R probably benign Het
Bend7 A T 2: 4,793,345 (GRCm39) D383V probably damaging Het
Calm4 A G 13: 3,888,298 (GRCm39) K135E possibly damaging Het
Cdh23 T C 10: 60,152,503 (GRCm39) D2412G probably damaging Het
Col6a5 T C 9: 105,805,736 (GRCm39) T1057A unknown Het
Dpf3 T G 12: 83,397,594 (GRCm39) D90A probably damaging Het
Dtl A T 1: 191,280,490 (GRCm39) M348K probably benign Het
Elmo3 T C 8: 106,035,793 (GRCm39) Y558H probably damaging Het
Epha3 C T 16: 63,472,746 (GRCm39) V79I possibly damaging Het
Ercc5 T C 1: 44,206,329 (GRCm39) M414T probably benign Het
Fam217a T C 13: 35,094,318 (GRCm39) I389M probably damaging Het
Fsip2 T C 2: 82,820,257 (GRCm39) F5330S possibly damaging Het
Grin2a T C 16: 9,481,099 (GRCm39) I533V probably benign Het
Gsdma2 T C 11: 98,546,417 (GRCm39) L167P probably damaging Het
Gys2 A T 6: 142,391,748 (GRCm39) F505I probably damaging Het
Il6 A T 5: 30,219,854 (GRCm39) M77L probably benign Het
Or6c76b A T 10: 129,692,410 (GRCm39) T8S probably benign Het
Pgm2l1 A G 7: 99,909,115 (GRCm39) I194V probably damaging Het
Rbpjl G T 2: 164,256,312 (GRCm39) V433L probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Supt16 T C 14: 52,415,575 (GRCm39) T387A probably benign Het
Usf3 C T 16: 44,036,414 (GRCm39) T298M probably benign Het
Usp49 T C 17: 47,983,828 (GRCm39) F278L probably damaging Het
Zfp729b A G 13: 67,740,352 (GRCm39) C648R probably damaging Het
Other mutations in Rps10
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1509:Rps10 UTSW 17 27,850,182 (GRCm39) missense probably benign 0.06
R2213:Rps10 UTSW 17 27,849,473 (GRCm39) unclassified probably benign
R5054:Rps10 UTSW 17 27,849,454 (GRCm39) missense probably damaging 1.00
R8163:Rps10 UTSW 17 27,853,085 (GRCm39) missense probably benign 0.00
R8462:Rps10 UTSW 17 27,853,208 (GRCm39) missense probably damaging 1.00
R9619:Rps10 UTSW 17 27,849,459 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- TGCTCTAAGAACATGCCTAAGC -3'
(R):5'- AGCTGCTGACTGACATGTG -3'

Sequencing Primer
(F):5'- ATCTACAGAGTGCGTTCCAG -3'
(R):5'- ACTGACATGTGTCTATGTCCTGCAG -3'
Posted On 2014-10-30