Incidental Mutation 'R3710:Rps17'
ID 259545
Institutional Source Beutler Lab
Gene Symbol Rps17
Ensembl Gene ENSMUSG00000061787
Gene Name ribosomal protein S17
Synonyms
MMRRC Submission 040703-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R3710 (G1)
Quality Score 195
Status Validated
Chromosome 7
Chromosomal Location 80992481-80994982 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80994672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 30 (T30S)
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: T30S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000079628
Gene: ENSMUSG00000061787
AA Change: T30S

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 noncoding transcript
Transcript: ENSMUST00000130487
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134425
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138936
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208054
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152319
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
Meta Mutation Damage Score 0.1305 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 98% (55/56)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T C 15: 64,597,384 (GRCm39) probably benign Het
Agbl2 G A 2: 90,636,152 (GRCm39) D563N probably benign Het
Aida C A 1: 183,085,610 (GRCm39) probably null Het
Ank1 A G 8: 23,577,095 (GRCm39) D200G probably damaging Het
Ankrd28 A G 14: 31,470,808 (GRCm39) probably benign Het
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
Atrnl1 C A 19: 57,645,546 (GRCm39) H469N probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bud23 A C 5: 135,085,204 (GRCm39) S41A possibly damaging Het
Car12 G T 9: 66,658,260 (GRCm39) A21S probably damaging Het
Cav3 T A 6: 112,436,774 (GRCm39) M1K probably null Het
Cdc42bpa A G 1: 179,892,628 (GRCm39) D264G probably damaging Het
Cic A G 7: 24,986,406 (GRCm39) D1276G probably damaging Het
Col2a1 A G 15: 97,888,788 (GRCm39) probably benign Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Csn3 C A 5: 88,077,882 (GRCm39) N129K possibly damaging Het
Diaph1 C A 18: 37,978,537 (GRCm39) G1209W probably damaging Het
Dsg2 A G 18: 20,735,174 (GRCm39) T1051A probably damaging Het
Gm1965 A T 6: 89,122,407 (GRCm39) noncoding transcript Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Gsto1 T C 19: 47,847,971 (GRCm39) probably null Het
Il15ra G T 2: 11,735,458 (GRCm39) probably null Het
Ipo8 A T 6: 148,707,842 (GRCm39) probably null Het
Lsm14a T A 7: 34,053,204 (GRCm39) I283F probably damaging Het
Mael T C 1: 166,066,135 (GRCm39) D34G probably damaging Het
Marchf6 A T 15: 31,509,972 (GRCm39) probably benign Het
Mtmr10 C A 7: 63,976,433 (GRCm39) A410D possibly damaging Het
Myh9 T C 15: 77,657,547 (GRCm39) E1066G possibly damaging Het
Nim1k A G 13: 120,173,635 (GRCm39) S420P probably benign Het
Nlrp4c T A 7: 6,068,627 (GRCm39) V176E probably damaging Het
Ogfod1 A T 8: 94,784,380 (GRCm39) K313* probably null Het
Or5an1 T G 19: 12,260,450 (GRCm39) F13V probably damaging Het
Osbpl10 C A 9: 115,036,655 (GRCm39) P253Q probably benign Het
Otof A T 5: 30,542,610 (GRCm39) M661K probably benign Het
Rbms2 C T 10: 127,979,312 (GRCm39) R139Q probably damaging Het
Rimbp2 G A 5: 128,866,795 (GRCm39) T508I probably benign Het
Ros1 A T 10: 52,037,991 (GRCm39) C393* probably null Het
Rps3 T C 7: 99,128,626 (GRCm39) K197R probably benign Het
Samd11 G A 4: 156,334,952 (GRCm39) L109F probably damaging Het
Smarca2 T G 19: 26,646,290 (GRCm39) probably benign Het
Sprr2g C A 3: 92,282,036 (GRCm39) P30Q unknown Het
Spz1 G A 13: 92,711,631 (GRCm39) Q282* probably null Het
Syne3 A G 12: 104,909,697 (GRCm39) L713P possibly damaging Het
Tgm1 C A 14: 55,950,052 (GRCm39) probably benign Het
Tomm22 T C 15: 79,555,419 (GRCm39) F55L probably damaging Het
Tph2 T A 10: 115,009,963 (GRCm39) Y199F probably benign Het
Vmn2r108 A T 17: 20,682,932 (GRCm39) F757L probably benign Het
Vmn2r69 T A 7: 85,055,601 (GRCm39) T846S probably benign Het
Was G T X: 7,952,927 (GRCm39) S271R probably benign Het
Zc3hav1 A C 6: 38,309,097 (GRCm39) M575R 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
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
R8966:Rps17 UTSW 7 80,994,660 (GRCm39) missense probably benign 0.00
R9233:Rps17 UTSW 7 80,993,497 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GTAAGGAGCCCGAACTAAGACC -3'
(R):5'- CGCCAACATGGTAGGTGTTTG -3'

Sequencing Primer
(F):5'- GTCGGCAAAACCCCACTGTG -3'
(R):5'- CAACATGGTAGGTGTTTGGCTCC -3'
Posted On 2015-01-23