Incidental Mutation 'R9648:Rps12'
ID 726880
Institutional Source Beutler Lab
Gene Symbol Rps12
Ensembl Gene ENSMUSG00000061983
Gene Name ribosomal protein S12
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9648 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 23661081-23663173 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23662777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 6 (I6V)
Ref Sequence ENSEMBL: ENSMUSP00000151305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073926] [ENSMUST00000218107] [ENSMUST00000218221] [ENSMUST00000220070]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000073926
AA Change: I6V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073581
Gene: ENSMUSG00000061983
AA Change: I6V

DomainStartEndE-ValueType
Pfam:Ribosomal_L7Ae 16 111 2.7e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218107
AA Change: I6V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000218142
Predicted Effect probably benign
Transcript: ENSMUST00000218221
AA Change: I22V

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000220070
AA Change: I6V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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 S12E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal cancers compared to matched normal colonic mucosa has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra2 G A 8: 27,609,172 (GRCm39) V798M probably damaging Het
Adprhl1 A G 8: 13,273,245 (GRCm39) L1171P probably benign Het
Atp2b2 C T 6: 113,780,707 (GRCm39) probably null Het
Birc6 A T 17: 74,938,696 (GRCm39) N2701Y probably damaging Het
Bptf A T 11: 106,943,720 (GRCm39) N2720K probably damaging Het
Ccpg1 T C 9: 72,919,312 (GRCm39) L309S probably damaging Het
Cep295 T C 9: 15,234,903 (GRCm39) N2126S probably benign Het
Cln5 A G 14: 103,313,734 (GRCm39) T329A probably benign Het
Cmas T A 6: 142,716,935 (GRCm39) L276M probably benign Het
Cnbd1 A C 4: 19,098,142 (GRCm39) probably null Het
Depdc1b A G 13: 108,460,444 (GRCm39) N18S probably damaging Het
Dido1 C A 2: 180,302,468 (GRCm39) R1812I probably damaging Het
Dnajc2 G A 5: 21,968,478 (GRCm39) T403M probably damaging Het
Dnm1 T A 2: 32,230,455 (GRCm39) I120F probably damaging Het
Egfl6 C T X: 165,319,235 (GRCm39) V379I probably benign Het
Foxa2 T A 2: 147,887,799 (GRCm39) K12M probably damaging Het
Fut7 T A 2: 25,315,336 (GRCm39) V198E probably damaging Het
Gramd1b A T 9: 40,244,793 (GRCm39) V205E probably damaging Het
Gtf2i T A 5: 134,284,770 (GRCm39) N510Y probably damaging Het
H2-M1 T C 17: 36,982,248 (GRCm39) I118V probably benign Het
Icam1 T C 9: 20,937,697 (GRCm39) F245L probably damaging Het
Ifna16 C T 4: 88,595,060 (GRCm39) A12T probably benign Het
Il12rb2 T C 6: 67,333,587 (GRCm39) T231A probably benign Het
Klrb1a T C 6: 128,586,816 (GRCm39) probably null Het
Mc3r T C 2: 172,091,639 (GRCm39) L287P probably damaging Het
Mme A T 3: 63,208,426 (GRCm39) I63L probably benign Het
Msh3 A G 13: 92,478,757 (GRCm39) V404A probably benign Het
Myrf T A 19: 10,188,010 (GRCm39) I896F possibly damaging Het
Nup205 T A 6: 35,202,746 (GRCm39) Y1318N probably benign Het
Or2t47 A T 11: 58,442,313 (GRCm39) Y251N probably damaging Het
Or7g17 T A 9: 18,768,748 (GRCm39) S267T possibly damaging Het
Osbp T A 19: 11,943,590 (GRCm39) W96R probably damaging Het
Pcf11 A G 7: 92,307,318 (GRCm39) L950P probably damaging Het
Pcnt T C 10: 76,190,089 (GRCm39) T2816A probably benign Het
Pde7a A G 3: 19,310,966 (GRCm39) Y87H probably damaging Het
Pip4k2c T C 10: 127,041,569 (GRCm39) H163R probably damaging Het
Pld1 T A 3: 28,174,900 (GRCm39) L846Q probably damaging Het
Plppr2 T A 9: 21,852,379 (GRCm39) S113T probably benign Het
Pms1 A T 1: 53,314,284 (GRCm39) L87Q probably damaging Het
Rasa1 A G 13: 85,436,690 (GRCm39) S113P possibly damaging Het
Rexo1 T A 10: 80,385,540 (GRCm39) H506L probably damaging Het
Rsph3a T C 17: 8,171,395 (GRCm39) M170T probably benign Het
Rsrc2 A G 5: 123,877,688 (GRCm39) S156P unknown Het
Rtp3 T C 9: 110,815,586 (GRCm39) T260A probably benign Het
Sall2 A G 14: 52,551,224 (GRCm39) F657S probably damaging Het
Serpind1 T A 16: 17,154,318 (GRCm39) N48K probably benign Het
Slc38a11 T A 2: 65,188,484 (GRCm39) D95V probably benign Het
Slc5a4a T C 10: 76,002,608 (GRCm39) C255R probably damaging Het
Slc6a12 C A 6: 121,335,661 (GRCm39) Y330* probably null Het
Slco1b2 T C 6: 141,602,655 (GRCm39) Y203H possibly damaging Het
Spdye4a C T 5: 143,210,848 (GRCm39) R74K probably benign Het
Stab2 ACC AC 10: 86,692,561 (GRCm39) probably null Het
Stat1 A T 1: 52,165,695 (GRCm39) D97V probably damaging Het
Stk11ip A G 1: 75,505,585 (GRCm39) E418G probably damaging Het
Tcf20 T C 15: 82,739,876 (GRCm39) D525G probably damaging Het
Tcstv7b C T 13: 120,702,495 (GRCm39) P97L possibly damaging Het
Tlr2 A T 3: 83,745,840 (GRCm39) L81Q probably damaging Het
Tmt1a3 C T 15: 100,232,857 (GRCm39) A16V probably benign Het
Trim50 T A 5: 135,395,475 (GRCm39) I277N probably damaging Het
Ttn T A 2: 76,619,806 (GRCm39) Q15954L probably benign Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Wdr43 A G 17: 71,960,494 (GRCm39) K592R probably benign Het
Xirp2 A G 2: 67,346,599 (GRCm39) I2947V probably benign Het
Zan A C 5: 137,405,992 (GRCm39) F3746V unknown Het
Zfp418 G A 7: 7,185,171 (GRCm39) S378N probably benign Het
Zfp518b C G 5: 38,830,240 (GRCm39) Q588H probably damaging Het
Zfp959 G A 17: 56,204,212 (GRCm39) R83K possibly damaging Het
Znrf3 G A 11: 5,231,915 (GRCm39) R437C probably damaging Het
Other mutations in Rps12
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0144:Rps12 UTSW 10 23,662,689 (GRCm39) missense probably benign 0.09
R1836:Rps12 UTSW 10 23,661,527 (GRCm39) missense probably damaging 1.00
R2127:Rps12 UTSW 10 23,662,776 (GRCm39) missense possibly damaging 0.75
R4782:Rps12 UTSW 10 23,662,688 (GRCm39) missense possibly damaging 0.62
R7201:Rps12 UTSW 10 23,661,129 (GRCm39) missense probably benign 0.01
R7723:Rps12 UTSW 10 23,662,752 (GRCm39) missense probably benign 0.10
R8079:Rps12 UTSW 10 23,661,575 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CCGGATGACATTCAGAACTTTTG -3'
(R):5'- CAGTGCGTTCAAGATTCGGC -3'

Sequencing Primer
(F):5'- TCAGAACTTTTGTGCTAACAGC -3'
(R):5'- GTTCAAGATTCGGCGTCAC -3'
Posted On 2022-10-06