Incidental Mutation 'R7210:Rps15a'
ID 560998
Institutional Source Beutler Lab
Gene Symbol Rps15a
Ensembl Gene ENSMUSG00000008683
Gene Name ribosomal protein S15A
Synonyms A630031B11Rik
MMRRC Submission 045239-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R7210 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 117703597-117715370 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117708334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 128 (F128L)
Ref Sequence ENSEMBL: ENSMUSP00000119975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106588] [ENSMUST00000106590] [ENSMUST00000131374] [ENSMUST00000131840] [ENSMUST00000172457]
AlphaFold P62245
Predicted Effect probably benign
Transcript: ENSMUST00000106588
AA Change: F128L

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000102198
Gene: ENSMUSG00000008683
AA Change: F128L

DomainStartEndE-ValueType
Pfam:Ribosomal_S8 5 130 1.7e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106590
SMART Domains Protein: ENSMUSP00000102200
Gene: ENSMUSG00000008683

DomainStartEndE-ValueType
Pfam:Ribosomal_S8 5 108 3.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131374
AA Change: F128L

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000119975
Gene: ENSMUSG00000008683
AA Change: F128L

DomainStartEndE-ValueType
Pfam:Ribosomal_S8 5 130 1.7e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131840
SMART Domains Protein: ENSMUSP00000116061
Gene: ENSMUSG00000008683

DomainStartEndE-ValueType
Pfam:Ribosomal_S8 5 67 1.1e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172457
AA Change: F128L

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000127791
Gene: ENSMUSG00000008683
AA Change: F128L

DomainStartEndE-ValueType
Pfam:Ribosomal_S8 5 130 6.3e-36 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (60/60)
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 S8P family of ribosomal proteins. It is located in the cytoplasm. 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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 G A 11: 94,264,767 (GRCm39) P194S probably benign Het
Ackr2 C T 9: 121,737,943 (GRCm39) A106V possibly damaging Het
Alg3 G A 16: 20,424,644 (GRCm39) P112L unknown Het
Areg T A 5: 91,288,764 (GRCm39) Y23* probably null Het
Aspn A G 13: 49,719,967 (GRCm39) T328A probably benign Het
B020011L13Rik A T 1: 117,729,241 (GRCm39) E249D possibly damaging Het
Bptf G A 11: 106,945,290 (GRCm39) Q2650* probably null Het
Btbd3 A T 2: 138,125,664 (GRCm39) R283W probably damaging Het
Cep131 T C 11: 119,955,615 (GRCm39) H1035R probably damaging Het
Cfap57 A T 4: 118,433,900 (GRCm39) Y959* probably null Het
Cnot1 T C 8: 96,515,286 (GRCm39) Y25C probably damaging Het
Crebbp G A 16: 3,902,121 (GRCm39) H2373Y possibly damaging Het
Ctnna3 T C 10: 64,086,547 (GRCm39) L373P probably damaging Het
Cyp8b1 T A 9: 121,744,246 (GRCm39) D362V probably damaging Het
D630003M21Rik T A 2: 158,057,932 (GRCm39) probably null Het
Dpp6 T C 5: 27,803,801 (GRCm39) I249T probably damaging Het
Fam149b T G 14: 20,428,540 (GRCm39) I475M probably damaging Het
Fat1 A G 8: 45,476,540 (GRCm39) Y1862C probably damaging Het
Fcrl5 A T 3: 87,353,719 (GRCm39) N355Y possibly damaging Het
Fgd6 C T 10: 93,969,954 (GRCm39) T1201I probably damaging Het
Fndc8 A T 11: 82,788,692 (GRCm39) D174V probably damaging Het
Gatb A G 3: 85,481,527 (GRCm39) H26R probably benign Het
Gm37240 T A 3: 84,405,114 (GRCm39) T230S probably benign Het
Gria4 T C 9: 4,464,135 (GRCm39) Q609R probably damaging Het
Gse1 C A 8: 120,957,441 (GRCm39) T644K unknown Het
Ifit1bl1 T G 19: 34,571,564 (GRCm39) I298L probably benign Het
Il31ra T C 13: 112,686,034 (GRCm39) D85G possibly damaging Het
Katnip T C 7: 125,471,411 (GRCm39) V1504A probably damaging Het
Lyst T C 13: 13,831,568 (GRCm39) L1664P probably damaging Het
Mrpl35 A G 6: 71,794,722 (GRCm39) L82S possibly damaging Het
Myo7b G A 18: 32,140,155 (GRCm39) R212C probably damaging Het
Myom2 T C 8: 15,154,114 (GRCm39) V684A probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nop58 G T 1: 59,749,539 (GRCm39) probably null Het
Nudt13 T A 14: 20,359,852 (GRCm39) I193N possibly damaging Het
Nyap1 C A 5: 137,736,244 (GRCm39) R81L probably damaging Het
Or1e28-ps1 T C 11: 73,615,699 (GRCm39) I50M possibly damaging Het
Oxct2b A C 4: 123,010,069 (GRCm39) probably benign Het
Pcf11 C T 7: 92,312,684 (GRCm39) A230T probably benign Het
Phactr4 A T 4: 132,085,582 (GRCm39) *695R probably null Het
Pkd1 T C 17: 24,794,840 (GRCm39) S2176P probably damaging Het
Plch2 C A 4: 155,093,543 (GRCm39) R133L probably damaging Het
Ptprq G T 10: 107,521,032 (GRCm39) N713K probably damaging Het
Ptrh2 A T 11: 86,580,793 (GRCm39) T137S probably benign Het
R3hdm1 A G 1: 128,138,945 (GRCm39) Y718C possibly damaging Het
Rftn1 T A 17: 50,301,335 (GRCm39) R505* probably null Het
Slc25a25 A T 2: 32,310,408 (GRCm39) M177K possibly damaging Het
Smgc C A 15: 91,744,492 (GRCm39) P631Q probably damaging Het
Sox2 T C 3: 34,705,306 (GRCm39) S248P probably damaging Het
Sycp1 T C 3: 102,760,808 (GRCm39) K702E probably damaging Het
Tes G T 6: 17,104,761 (GRCm39) C414F probably damaging Het
Tet1 A T 10: 62,650,280 (GRCm39) C14S probably null Het
Tle3 C T 9: 61,319,587 (GRCm39) P452S probably damaging Het
Tmc6 A C 11: 117,666,670 (GRCm39) L131R possibly damaging Het
Tnip3 C T 6: 65,570,495 (GRCm39) R30* probably null Het
Tnrc6b G T 15: 80,813,486 (GRCm39) G1748W probably damaging Het
Ugt2b38 T G 5: 87,558,284 (GRCm39) D459A probably damaging Het
Zdhhc2 A T 8: 40,920,480 (GRCm39) R246S probably damaging Het
Zscan22 T A 7: 12,640,748 (GRCm39) C331S probably damaging Het
Other mutations in Rps15a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0964:Rps15a UTSW 7 117,714,060 (GRCm39) missense probably benign 0.08
R9676:Rps15a UTSW 7 117,714,361 (GRCm39) missense probably benign 0.02
R9746:Rps15a UTSW 7 117,709,220 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CATACAACCCAAGCTGGAGG -3'
(R):5'- CTAGGCAGTAACAGTCCCTGTG -3'

Sequencing Primer
(F):5'- CCCAAGCTGGAGGTGAAGTG -3'
(R):5'- AGTAACAGTCCCTGTGTGCCTTC -3'
Posted On 2019-06-26