Incidental Mutation 'IGL00848:Rps11'
ID278007
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rps11
Ensembl Gene ENSMUSG00000003429
Gene Nameribosomal protein S11
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.947) question?
Stock #IGL00848
Quality Score
Status
Chromosome7
Chromosomal Location45122379-45124439 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 45123501 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 22 (R22Q)
Ref Sequence ENSEMBL: ENSMUSP00000003521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003521] [ENSMUST00000150350] [ENSMUST00000209212] [ENSMUST00000209467] [ENSMUST00000209711] [ENSMUST00000209812] [ENSMUST00000209815] [ENSMUST00000209927] [ENSMUST00000210191] [ENSMUST00000210918] [ENSMUST00000210931] [ENSMUST00000210967] [ENSMUST00000211037] [ENSMUST00000211725]
Predicted Effect probably benign
Transcript: ENSMUST00000003521
AA Change: R22Q

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000003521
Gene: ENSMUSG00000003429
AA Change: R22Q

DomainStartEndE-ValueType
Pfam:Ribosomal_S17_N 5 73 1.9e-40 PFAM
Pfam:Ribosomal_S17 75 144 1.4e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083561
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083694
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083944
Predicted Effect probably benign
Transcript: ENSMUST00000150350
SMART Domains Protein: ENSMUSP00000115722
Gene: ENSMUSG00000074129

DomainStartEndE-ValueType
Pfam:Ribosomal_L13 6 122 7e-27 PFAM
low complexity region 169 180 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198528
Predicted Effect probably benign
Transcript: ENSMUST00000209212
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209340
Predicted Effect probably benign
Transcript: ENSMUST00000209467
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209626
Predicted Effect probably benign
Transcript: ENSMUST00000209711
Predicted Effect probably benign
Transcript: ENSMUST00000209812
Predicted Effect probably benign
Transcript: ENSMUST00000209815
Predicted Effect unknown
Transcript: ENSMUST00000209838
AA Change: R9Q
Predicted Effect probably benign
Transcript: ENSMUST00000209927
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210073
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210134
Predicted Effect probably benign
Transcript: ENSMUST00000210191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210792
Predicted Effect probably benign
Transcript: ENSMUST00000210918
Predicted Effect probably benign
Transcript: ENSMUST00000210931
Predicted Effect probably benign
Transcript: ENSMUST00000210967
Predicted Effect probably benign
Transcript: ENSMUST00000211037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211438
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211494
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211583
Predicted Effect probably benign
Transcript: ENSMUST00000211725
AA Change: R22Q

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Coding Region Coverage
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 member of the S17P family of ribosomal proteins that is a component of the 40S subunit. This gene is co-transcribed with the small nucleolar RNA gene U35B, which is located in the third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,246,724 E869G probably damaging Het
A930011G23Rik A G 5: 99,222,378 F508L probably damaging Het
Adgra3 C T 5: 50,001,949 G320R probably damaging Het
Arhgef40 G A 14: 51,987,427 V10M probably damaging Het
Birc6 C T 17: 74,696,393 Q4739* probably null Het
Cdh20 C T 1: 104,934,256 H54Y probably benign Het
Cep112 A G 11: 108,472,060 D202G probably damaging Het
Cfhr2 T A 1: 139,831,232 T27S probably benign Het
Copa T A 1: 172,110,688 C523S possibly damaging Het
Copz1 T A 15: 103,298,749 probably benign Het
Crybg1 A C 10: 43,967,818 probably null Het
Cyp3a11 A T 5: 145,862,465 I304N probably damaging Het
Eif2d C T 1: 131,164,436 Q315* probably null Het
Fgfr4 A G 13: 55,159,170 E224G probably damaging Het
Fndc3b A T 3: 27,451,509 L870Q probably damaging Het
Glt8d2 C T 10: 82,662,165 probably null Het
Gpat3 A T 5: 100,893,144 M357L probably benign Het
Hrnr A T 3: 93,322,897 K147N unknown Het
Kbtbd3 T A 9: 4,331,184 S519R probably damaging Het
Kcnv1 A G 15: 45,113,228 I221T probably benign Het
Khdrbs2 C T 1: 32,472,752 A266V probably benign Het
Lmtk2 A G 5: 144,176,398 E1312G probably benign Het
Mb21d1 G A 9: 78,435,488 P344L probably damaging Het
Mos T C 4: 3,871,459 N119S probably damaging Het
Mtpap C T 18: 4,380,717 H132Y probably benign Het
Myo18b G A 5: 112,871,485 T642I probably damaging Het
Myo5c A G 9: 75,289,181 E1303G probably benign Het
Napepld A T 5: 21,683,193 M86K probably benign Het
Nvl T A 1: 181,105,125 D709V probably damaging Het
Pak1ip1 A T 13: 41,012,623 E341D probably benign Het
Pgghg G A 7: 140,942,404 G32D probably damaging Het
Phlpp1 G A 1: 106,376,255 R1096H probably damaging Het
Phlpp1 C T 1: 106,339,448 T697M probably damaging Het
Piwil4 T G 9: 14,727,411 T273P probably damaging Het
Pkd2l1 A T 19: 44,192,279 probably benign Het
Polr3b A G 10: 84,680,377 D623G probably damaging Het
Pop1 A G 15: 34,508,729 T317A probably benign Het
Prune2 A T 19: 17,119,118 K662I probably damaging Het
Ptger4 T C 15: 5,235,108 I356V probably benign Het
Rhbdd1 T C 1: 82,340,444 L16P possibly damaging Het
Sfxn2 A T 19: 46,590,157 I204F probably damaging Het
Slc26a9 C T 1: 131,757,528 S365F probably damaging Het
Slc47a2 C T 11: 61,302,233 V565M probably benign Het
Spns1 T C 7: 126,371,242 probably null Het
Stk3 T A 15: 35,114,622 E48V possibly damaging Het
Svs3b T C 2: 164,256,101 E100G probably damaging Het
Tjp1 T C 7: 65,303,194 Q1464R probably benign Het
Tspan10 T C 11: 120,444,270 S69P probably benign Het
Usp32 T C 11: 85,051,181 probably benign Het
Vps45 G T 3: 96,056,973 probably benign Het
Zfp106 A T 2: 120,512,727 N1790K probably damaging Het
Zfp704 A T 3: 9,565,239 S21T possibly damaging Het
Other mutations in Rps11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00817:Rps11 APN 7 45123501 missense probably benign 0.03
R0577:Rps11 UTSW 7 45122850 missense probably benign 0.22
R0594:Rps11 UTSW 7 45124282 splice site probably benign
R4302:Rps11 UTSW 7 45122944 missense probably benign 0.05
Posted On2015-04-16