Incidental Mutation 'IGL01775:Rps8'
ID 154071
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rps8
Ensembl Gene ENSMUSG00000047675
Gene Name ribosomal protein S8
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # IGL01775
Quality Score
Status
Chromosome 4
Chromosomal Location 117011033-117013329 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 117012249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 56 (R56L)
Ref Sequence ENSEMBL: ENSMUSP00000099757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065896] [ENSMUST00000102696]
AlphaFold P62242
Predicted Effect probably benign
Transcript: ENSMUST00000065896
SMART Domains Protein: ENSMUSP00000064261
Gene: ENSMUSG00000028678

DomainStartEndE-ValueType
low complexity region 192 205 N/A INTRINSIC
KISc 252 590 1.04e-131 SMART
coiled coil region 615 647 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082817
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083746
Predicted Effect probably benign
Transcript: ENSMUST00000102696
AA Change: R56L

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099757
Gene: ENSMUSG00000047675
AA Change: R56L

DomainStartEndE-ValueType
Pfam:Ribosomal_S8e 1 190 1.9e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137423
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140226
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141219
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174941
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174939
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 ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal tumors and colon polyps compared to matched normal colonic mucosa has been observed. This gene is co-transcribed with the small nucleolar RNA genes U38A, U38B, U39, and U40, which are located in its fourth, fifth, first, and second introns, respectively. 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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf A T 11: 84,361,963 (GRCm39) L333Q probably damaging Het
Ablim3 A T 18: 61,949,989 (GRCm39) probably benign Het
Acsl6 T C 11: 54,236,826 (GRCm39) probably benign Het
Adra1b T A 11: 43,726,128 (GRCm39) D263V probably damaging Het
Aicda G A 6: 122,538,012 (GRCm39) V57M probably damaging Het
C2cd3 T C 7: 100,092,638 (GRCm39) W494R probably damaging Het
Ccnb1 T C 13: 100,920,017 (GRCm39) S165G probably benign Het
Cnot4 A T 6: 35,046,411 (GRCm39) probably benign Het
Dph6 A T 2: 114,348,776 (GRCm39) probably benign Het
Emc3 A G 6: 113,508,296 (GRCm39) S50P possibly damaging Het
Fbxo45 A C 16: 32,052,093 (GRCm39) probably null Het
Gm14496 A T 2: 181,642,125 (GRCm39) T599S probably benign Het
Gspt1 T C 16: 11,041,159 (GRCm39) I535V possibly damaging Het
Hemk1 A G 9: 107,207,995 (GRCm39) I215T possibly damaging Het
Ighm A T 12: 113,386,087 (GRCm39) C88S unknown Het
Itih2 A C 2: 10,134,097 (GRCm39) D38E probably benign Het
Lat C A 7: 125,967,261 (GRCm39) V113L probably benign Het
Mical2 T A 7: 111,981,269 (GRCm39) F480L possibly damaging Het
Mki67 A T 7: 135,300,005 (GRCm39) S1676R possibly damaging Het
Msh2 A T 17: 87,990,074 (GRCm39) N254I possibly damaging Het
Naglu T C 11: 100,964,921 (GRCm39) M336T probably damaging Het
Nhsl1 C T 10: 18,400,222 (GRCm39) R483C probably damaging Het
Nsmaf C T 4: 6,396,791 (GRCm39) E899K possibly damaging Het
Nup85 T C 11: 115,471,593 (GRCm39) Y181H probably damaging Het
Or52n2 A T 7: 104,542,499 (GRCm39) M112K possibly damaging Het
Or5m5 T C 2: 85,815,014 (GRCm39) S277P probably damaging Het
Or7g35 A T 9: 19,496,001 (GRCm39) Q56L probably benign Het
Or8g23 C A 9: 38,971,763 (GRCm39) L66F probably damaging Het
P2rx3 C T 2: 84,854,501 (GRCm39) R91H probably benign Het
Plag1 T C 4: 3,904,513 (GRCm39) D226G probably damaging Het
Pofut1 T A 2: 153,090,393 (GRCm39) F96I probably damaging Het
Prim1 A G 10: 127,865,112 (GRCm39) N399S probably benign Het
Prkd3 G T 17: 79,320,189 (GRCm39) T51K probably damaging Het
Ptprc T C 1: 137,992,497 (GRCm39) Y1210C probably damaging Het
Rbm43 A T 2: 51,815,460 (GRCm39) S254T probably damaging Het
Retsat G A 6: 72,584,300 (GRCm39) R528Q probably damaging Het
Rlig1 A T 10: 100,419,799 (GRCm39) L94Q probably benign Het
Samhd1 A T 2: 156,956,250 (GRCm39) probably benign Het
Sfxn1 T C 13: 54,259,758 (GRCm39) probably benign Het
Stk33 T A 7: 108,911,574 (GRCm39) E396D possibly damaging Het
Tcaim T C 9: 122,647,890 (GRCm39) V135A probably damaging Het
Thsd7b A G 1: 129,556,676 (GRCm39) D421G probably damaging Het
Unc80 A G 1: 66,640,215 (GRCm39) D1374G possibly damaging Het
Wnk2 C A 13: 49,224,586 (GRCm39) D232Y probably damaging Het
Zfand1 T C 3: 10,409,926 (GRCm39) T145A probably damaging Het
Other mutations in Rps8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4824:Rps8 UTSW 4 117,012,352 (GRCm39) unclassified probably benign
R5290:Rps8 UTSW 4 117,012,352 (GRCm39) unclassified probably benign
R5687:Rps8 UTSW 4 117,012,352 (GRCm39) unclassified probably benign
R7546:Rps8 UTSW 4 117,011,104 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04