Incidental Mutation 'R8163:Rps10'
ID 633643
Institutional Source Beutler Lab
Gene Symbol Rps10
Ensembl Gene ENSMUSG00000052146
Gene Name ribosomal protein S10
Synonyms 2210402A09Rik
MMRRC Submission 067589-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R8163 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 27849389-27854218 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 27853085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 95 (R95C)
Ref Sequence ENSEMBL: ENSMUSP00000110532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025052] [ENSMUST00000114881] [ENSMUST00000114882] [ENSMUST00000178774]
AlphaFold P63325
Predicted Effect probably benign
Transcript: ENSMUST00000025052
AA Change: R95C

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000025052
Gene: ENSMUSG00000052146
AA Change: R95C

DomainStartEndE-ValueType
Pfam:S10_plectin 3 101 1.2e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114881
AA Change: R95C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000110531
Gene: ENSMUSG00000052146
AA Change: R95C

DomainStartEndE-ValueType
Pfam:S10_plectin 3 101 1.3e-48 PFAM
low complexity region 150 165 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114882
AA Change: R95C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000110532
Gene: ENSMUSG00000052146
AA Change: R95C

DomainStartEndE-ValueType
Pfam:S10_plectin 3 98 2.3e-52 PFAM
low complexity region 150 165 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178774
AA Change: R95C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000136042
Gene: ENSMUSG00000052146
AA Change: R95C

DomainStartEndE-ValueType
Pfam:S10_plectin 3 101 1.3e-48 PFAM
low complexity region 150 165 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 100% (53/53)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930022D16Rik A G 11: 109,304,883 (GRCm39) I11V unknown Het
Ago3 G T 4: 126,262,377 (GRCm39) T391K probably benign Het
Asap1 A G 15: 63,963,899 (GRCm39) W1100R probably damaging Het
Bbof1 T C 12: 84,473,536 (GRCm39) S289P possibly damaging Het
Cd3d T C 9: 44,896,952 (GRCm39) F109L probably benign Het
Cebpd A T 16: 15,705,841 (GRCm39) E218V probably damaging Het
Cfl1 T C 19: 5,543,528 (GRCm39) probably benign Het
Cpa2 A C 6: 30,564,350 (GRCm39) I394L probably damaging Het
Ddx50 C A 10: 62,475,678 (GRCm39) V348F possibly damaging Het
Dnajc28 G A 16: 91,413,795 (GRCm39) R150* probably null Het
Echs1 A G 7: 139,692,357 (GRCm39) V130A possibly damaging Het
Eif2s2 A G 2: 154,734,621 (GRCm39) S2P probably benign Het
Fastk A G 5: 24,649,273 (GRCm39) I38T probably benign Het
Fat3 G A 9: 15,871,055 (GRCm39) R3779C probably damaging Het
Fat4 A T 3: 39,033,881 (GRCm39) N2511I possibly damaging Het
Fbxw13 G A 9: 109,012,122 (GRCm39) T315I probably benign Het
Fzd5 A T 1: 64,774,352 (GRCm39) Y470N probably damaging Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Gpr25 T C 1: 136,187,596 (GRCm39) D339G probably damaging Het
Igsf9b T A 9: 27,233,907 (GRCm39) probably null Het
Il5 T A 11: 53,614,813 (GRCm39) M125K possibly damaging Het
Iqub G A 6: 24,449,714 (GRCm39) T717I probably benign Het
Katnb1 T C 8: 95,823,014 (GRCm39) F403S probably damaging Het
Krt26 T C 11: 99,220,498 (GRCm39) I451V probably benign Het
Krt88 T C 15: 101,351,389 (GRCm39) L132P probably damaging Het
Kynu G T 2: 43,518,966 (GRCm39) G245V probably damaging Het
Lap3 C T 5: 45,669,389 (GRCm39) R513* probably null Het
Lin9 C T 1: 180,486,691 (GRCm39) R126W probably damaging Het
Lrrc37 A T 11: 103,506,688 (GRCm39) I1760K unknown Het
Lrrtm2 C T 18: 35,346,777 (GRCm39) R175H probably damaging Het
N4bp2l2 A G 5: 150,584,774 (GRCm39) L60P probably damaging Het
Ncr1 T C 7: 4,343,828 (GRCm39) F142S probably damaging Het
Nktr TAGAAG TAG 9: 121,579,929 (GRCm39) probably benign Het
Or5b95 A G 19: 12,657,552 (GRCm39) I27V probably benign Het
Parp16 T A 9: 65,137,231 (GRCm39) H152Q probably damaging Het
Plaa C G 4: 94,457,640 (GRCm39) V777L probably benign Het
Prnp A G 2: 131,778,908 (GRCm39) T187A probably benign Het
Pzp T G 6: 128,489,157 (GRCm39) I485L probably benign Het
Rc3h1 T A 1: 160,782,629 (GRCm39) Y703N probably damaging Het
Rngtt G A 4: 33,325,109 (GRCm39) C110Y probably damaging Het
Scn9a T A 2: 66,314,745 (GRCm39) I1658F probably damaging Het
Sec16a A T 2: 26,306,433 (GRCm39) W702R Het
Taf6 G T 5: 138,180,238 (GRCm39) Q339K possibly damaging Het
Tbcd C T 11: 121,384,711 (GRCm39) T315M probably benign Het
Tmem198 C T 1: 75,459,671 (GRCm39) P209S possibly damaging Het
Vmn2r78 G A 7: 86,603,660 (GRCm39) A613T probably damaging Het
Vps13c G A 9: 67,857,720 (GRCm39) E2651K probably benign Het
Wdfy4 C T 14: 32,873,545 (GRCm39) V255I Het
Zfhx3 A G 8: 109,675,925 (GRCm39) D2325G probably damaging Het
Zfp36l2 T C 17: 84,494,551 (GRCm39) N29D possibly damaging Het
Zfp692 T A 11: 58,201,199 (GRCm39) probably null 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
R2344:Rps10 UTSW 17 27,853,081 (GRCm39) missense possibly damaging 0.93
R5054:Rps10 UTSW 17 27,849,454 (GRCm39) missense probably damaging 1.00
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'- CTGTGCTCTAAGAACATGCCTAAG -3'
(R):5'- AGCTGCTGACTGACATGTG -3'

Sequencing Primer
(F):5'- ATCTACAGAGTGCGTTCCAG -3'
(R):5'- ACTGACATGTGTCTATGTCCTGCAG -3'
Posted On 2020-07-13