Incidental Mutation 'R8966:Rps17'
ID 682736
Institutional Source Beutler Lab
Gene Symbol Rps17
Ensembl Gene ENSMUSG00000061787
Gene Name ribosomal protein S17
Synonyms
MMRRC Submission 068800-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R8966 (G1)
Quality Score 127.008
Status Not validated
Chromosome 7
Chromosomal Location 80992481-80994982 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 80994660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 34 (V34L)
Ref Sequence ENSEMBL: ENSMUSP00000079628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080813] [ENSMUST00000098331] [ENSMUST00000130310] [ENSMUST00000178892]
AlphaFold P63276
Predicted Effect probably benign
Transcript: ENSMUST00000080813
AA Change: V34L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000079628
Gene: ENSMUSG00000061787
AA Change: V34L

DomainStartEndE-ValueType
Pfam:Ribosomal_S17e 1 119 9.7e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098331
SMART Domains Protein: ENSMUSP00000095936
Gene: ENSMUSG00000025586

DomainStartEndE-ValueType
low complexity region 112 126 N/A INTRINSIC
low complexity region 176 195 N/A INTRINSIC
RRM 311 386 2.6e-4 SMART
RRM_2 430 506 2.7e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130310
SMART Domains Protein: ENSMUSP00000120139
Gene: ENSMUSG00000025586

DomainStartEndE-ValueType
low complexity region 107 121 N/A INTRINSIC
low complexity region 171 190 N/A INTRINSIC
RRM 306 376 1.35e-1 SMART
RRM 420 496 6.36e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178892
SMART Domains Protein: ENSMUSP00000137079
Gene: ENSMUSG00000025586

DomainStartEndE-ValueType
Pfam:CEBP1_N 1 307 2.5e-153 PFAM
RRM 312 387 6.25e-2 SMART
RRM 431 507 6.36e-1 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
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 four 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 S17E family of ribosomal proteins and is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia 4. Alternative splicing of this gene results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Apr 2014]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444P10Rik A T 1: 16,151,062 (GRCm39) M40K possibly damaging Het
Aak1 A C 6: 86,964,234 (GRCm39) N945T unknown Het
Abca13 C G 11: 9,578,588 (GRCm39) D4863E probably damaging Het
Abca8a C T 11: 109,962,245 (GRCm39) probably null Het
Alppl2 T A 1: 87,015,210 (GRCm39) N413I probably damaging Het
Asb13 T A 13: 3,692,093 (GRCm39) H24Q probably damaging Het
Atg9b A G 5: 24,596,200 (GRCm39) probably null Het
Atp2b4 T A 1: 133,666,317 (GRCm39) H245L probably benign Het
B3galt2 A C 1: 143,521,883 (GRCm39) R6S probably damaging Het
B4galnt2 T C 11: 95,781,811 (GRCm39) H118R probably damaging Het
Ccdc121rt2 T A 5: 112,598,103 (GRCm39) W217R probably damaging Het
Clca3b A G 3: 144,544,872 (GRCm39) S372P probably benign Het
Cnn1 T C 9: 22,010,716 (GRCm39) probably null Het
Cpne6 C T 14: 55,750,060 (GRCm39) R64C probably damaging Het
Csmd1 T A 8: 16,250,059 (GRCm39) H973L probably damaging Het
Dennd5b A T 6: 148,901,474 (GRCm39) H1137Q probably damaging Het
Dnah3 G T 7: 119,549,881 (GRCm39) Y500* probably null Het
Dnajc19 A G 3: 34,132,893 (GRCm39) V104A unknown Het
Eea1 G A 10: 95,832,901 (GRCm39) E249K probably damaging Het
Eif1ad19 G T 12: 87,740,273 (GRCm39) Y95* probably null Het
Fancc T C 13: 63,495,285 (GRCm39) Q213R probably benign Het
Gabrr1 A G 4: 33,152,411 (GRCm39) probably null Het
Hgd T A 16: 37,431,532 (GRCm39) V113E probably damaging Het
Ints7 T C 1: 191,351,717 (GRCm39) S809P probably benign Het
Lrrcc1 T C 3: 14,602,359 (GRCm39) C151R probably damaging Het
Marveld3 T C 8: 110,675,019 (GRCm39) S266G possibly damaging Het
Mdn1 C T 4: 32,672,837 (GRCm39) Q486* probably null Het
Mstn G T 1: 53,105,641 (GRCm39) V328L probably benign Het
Ndc80 C A 17: 71,815,573 (GRCm39) G404V probably benign Het
Nelfb T C 2: 25,090,751 (GRCm39) R557G probably damaging Het
Nol10 T G 12: 17,419,507 (GRCm39) V266G possibly damaging Het
Optc C A 1: 133,828,872 (GRCm39) A245S probably damaging Het
Or51a43 A G 7: 103,718,139 (GRCm39) L33P probably damaging Het
Or52ae7 A T 7: 103,119,524 (GRCm39) I93F probably benign Het
Or5b111 A T 19: 13,291,196 (GRCm39) F151Y probably damaging Het
Or6c75 A T 10: 129,336,951 (GRCm39) Y58F probably damaging Het
Or8i2 T A 2: 86,852,879 (GRCm39) E3V possibly damaging Het
Pcdhb11 A G 18: 37,556,037 (GRCm39) T456A possibly damaging Het
Pkd1 A G 17: 24,794,751 (GRCm39) E2146G possibly damaging Het
Pkdrej A T 15: 85,702,012 (GRCm39) I1308N probably damaging Het
Plekha3 A T 2: 76,523,006 (GRCm39) I225F probably benign Het
Ppp1r3c A T 19: 36,711,736 (GRCm39) D11E probably benign Het
Pprc1 A G 19: 46,054,118 (GRCm39) D1155G unknown Het
Prcc T C 3: 87,792,232 (GRCm39) K140E probably damaging Het
Pth1r A T 9: 110,554,229 (GRCm39) V334D possibly damaging Het
Rab3d G A 9: 21,826,060 (GRCm39) T118M probably damaging Het
Ric8a A G 7: 140,438,379 (GRCm39) E206G probably benign Het
Serpinb13 T C 1: 106,928,165 (GRCm39) S262P probably damaging Het
Serpinb6b T A 13: 33,162,035 (GRCm39) L278Q probably damaging Het
Slc1a3 C T 15: 8,680,332 (GRCm39) probably null Het
Slc27a5 C A 7: 12,725,090 (GRCm39) R452S probably benign Het
Slc45a2 T A 15: 11,001,122 (GRCm39) W74R probably damaging Het
Slc4a2 A G 5: 24,635,092 (GRCm39) T175A probably benign Het
Sos1 C A 17: 80,705,879 (GRCm39) G1231C possibly damaging Het
Spata32 T C 11: 103,100,143 (GRCm39) T121A probably damaging Het
Srd5a3 T A 5: 76,301,437 (GRCm39) F222Y probably benign Het
Stag3 T C 5: 138,289,666 (GRCm39) Y279H probably damaging Het
Stk31 T C 6: 49,423,134 (GRCm39) I795T possibly damaging Het
Syne2 T C 12: 76,146,197 (GRCm39) I1665T probably damaging Het
Tas2r118 A G 6: 23,970,020 (GRCm39) Y14H probably damaging Het
Tmc7 G A 7: 118,160,228 (GRCm39) P203L probably benign Het
Tnik T G 3: 28,587,044 (GRCm39) M105R unknown Het
Trrap A G 5: 144,740,162 (GRCm39) T1195A probably damaging Het
Usf1 T A 1: 171,245,101 (GRCm39) probably null Het
Usp53 G A 3: 122,754,981 (GRCm39) T158I probably damaging Het
Uty T C Y: 1,099,748 (GRCm39) E1149G possibly damaging Het
Vmn2r23 G A 6: 123,719,079 (GRCm39) V811M possibly damaging Het
Zfp663 T A 2: 165,194,958 (GRCm39) K420N probably damaging Het
Zfp703 T C 8: 27,468,302 (GRCm39) S91P possibly damaging Het
Zpld2 T C 4: 133,929,712 (GRCm39) T198A probably damaging Het
Zscan4-ps1 A C 7: 10,800,250 (GRCm39) I213S probably benign Het
Other mutations in Rps17
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1340:Rps17 UTSW 7 80,993,481 (GRCm39) critical splice donor site probably null
R2268:Rps17 UTSW 7 80,994,746 (GRCm39) missense probably benign 0.00
R3710:Rps17 UTSW 7 80,994,672 (GRCm39) missense probably benign 0.00
R7353:Rps17 UTSW 7 80,994,093 (GRCm39) missense possibly damaging 0.91
R8210:Rps17 UTSW 7 80,994,750 (GRCm39) missense probably benign 0.01
R9233:Rps17 UTSW 7 80,993,497 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CGTAAGGAGCCCGAACTAAG -3'
(R):5'- CGCCAACATGGTAGGTGTTTG -3'

Sequencing Primer
(F):5'- GAACTAAGACCACGTCGGC -3'
(R):5'- CAACATGGTAGGTGTTTGGCTCC -3'
Posted On 2021-10-11