Incidental Mutation 'R8490:Rps27a'
ID 657955
Institutional Source Beutler Lab
Gene Symbol Rps27a
Ensembl Gene ENSMUSG00000020460
Gene Name ribosomal protein S27A
Synonyms 0610006J14Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R8490 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 29495842-29498040 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29496719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 58 (D58G)
Ref Sequence ENSEMBL: ENSMUSP00000099909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020749] [ENSMUST00000020753] [ENSMUST00000093239] [ENSMUST00000102844] [ENSMUST00000102845] [ENSMUST00000208530]
AlphaFold P62983
Predicted Effect probably benign
Transcript: ENSMUST00000020749
SMART Domains Protein: ENSMUSP00000020749
Gene: ENSMUSG00000020459

DomainStartEndE-ValueType
Pfam:SRPRB 178 310 2.1e-6 PFAM
Pfam:GTP_EFTU 179 344 8.9e-34 PFAM
Pfam:MMR_HSR1 182 289 6.9e-10 PFAM
coiled coil region 449 484 N/A INTRINSIC
Pfam:IF-2 504 607 6.5e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000020753
SMART Domains Protein: ENSMUSP00000020753
Gene: ENSMUSG00000020461

DomainStartEndE-ValueType
Pfam:TSNAXIP1_N 28 152 2.6e-26 PFAM
Pfam:Clathrin_H_link 302 365 3.7e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093239
SMART Domains Protein: ENSMUSP00000090926
Gene: ENSMUSG00000020459

DomainStartEndE-ValueType
Pfam:SRPRB 178 310 2.1e-6 PFAM
Pfam:GTP_EFTU 179 344 8.9e-34 PFAM
Pfam:MMR_HSR1 182 289 6.9e-10 PFAM
coiled coil region 449 484 N/A INTRINSIC
Pfam:IF-2 504 607 6.5e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102844
AA Change: D58G

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000099908
Gene: ENSMUSG00000020460
AA Change: D58G

DomainStartEndE-ValueType
UBQ 1 72 2.14e-36 SMART
Pfam:Ribosomal_S27 101 147 9.1e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102845
AA Change: D58G

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000099909
Gene: ENSMUSG00000020460
AA Change: D58G

DomainStartEndE-ValueType
UBQ 1 72 2.14e-36 SMART
Pfam:Ribosomal_S27 102 147 1.4e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208530
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (52/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ubiquitin, a highly conserved protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome, is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein S27a at the C terminus. When expressed in yeast, the protein is post-translationally processed, generating free ubiquitin monomer and ribosomal protein S27a. Ribosomal protein S27a is a component of the 40S subunit of the ribosome and belongs to the S27AE family of ribosomal proteins. It contains C4-type zinc finger domains and is located in the cytoplasm. Pseudogenes derived from this gene are present in the genome. As with ribosomal protein S27a, ribosomal protein L40 is also synthesized as a fusion protein with ubiquitin; similarly, ribosomal protein S30 is synthesized as a fusion protein with the ubiquitin-like protein fubi. Multiple alternatively spliced transcript variants that encode the same proteins have been identified.[provided by RefSeq, Sep 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T G 1: 71,323,256 (GRCm39) K1609Q probably damaging Het
Arl5a A G 2: 52,314,614 (GRCm39) F12L probably benign Het
Armc9 C T 1: 86,202,125 (GRCm39) T761I probably benign Het
Bmp1 A G 14: 70,727,573 (GRCm39) F670S possibly damaging Het
Cd34 T C 1: 194,621,281 (GRCm39) V3A probably benign Het
Cdkn2a A T 4: 89,212,759 (GRCm39) M1K probably null Het
Cep135 C A 5: 76,786,054 (GRCm39) H1052Q probably benign Het
Cfap100 T C 6: 90,390,721 (GRCm39) probably benign Het
Cib4 A T 5: 30,703,075 (GRCm39) Y17N probably damaging Het
Col3a1 T G 1: 45,385,116 (GRCm39) S78A probably benign Het
Crebzf A G 7: 90,092,706 (GRCm39) M162V probably benign Het
Dbx2 T A 15: 95,552,454 (GRCm39) M64L possibly damaging Het
Epb41l2 A T 10: 25,380,128 (GRCm39) T884S probably damaging Het
Erich3 T A 3: 154,401,461 (GRCm39) S37T Het
Eya1 G T 1: 14,254,899 (GRCm39) Q383K possibly damaging Het
Gm15130 A T 2: 110,983,230 (GRCm39) probably null Het
Ido1 A T 8: 25,086,954 (GRCm39) M1K probably null Het
Loxhd1 C T 18: 77,529,162 (GRCm39) T1069M possibly damaging Het
Lrrtm2 T G 18: 35,346,451 (GRCm39) probably null Het
Map1a C T 2: 121,135,045 (GRCm39) H1716Y possibly damaging Het
Mycbp2 T A 14: 103,446,267 (GRCm39) T1854S probably benign Het
Myh13 T C 11: 67,255,351 (GRCm39) S1574P probably damaging Het
Neu1 G A 17: 35,150,982 (GRCm39) A78T probably benign Het
Nfam1 T C 15: 82,907,238 (GRCm39) probably benign Het
Or1e27-ps1 T A 11: 73,555,675 (GRCm39) L80Q probably damaging Het
Or4c10b A C 2: 89,711,511 (GRCm39) T114P probably damaging Het
Or8k33 A T 2: 86,384,027 (GRCm39) M147K probably benign Het
Pdgfra T C 5: 75,331,329 (GRCm39) probably null Het
Ptgfrn A T 3: 100,963,686 (GRCm39) M642K probably damaging Het
R3hdm1 T A 1: 128,162,864 (GRCm39) H980Q probably benign Het
Rfc2 C A 5: 134,611,698 (GRCm39) S19* probably null Het
Rhbdf1 C A 11: 32,160,162 (GRCm39) S738I probably damaging Het
Rif1 T A 2: 52,001,011 (GRCm39) N1488K probably damaging Het
Rnf31 G A 14: 55,833,566 (GRCm39) V525I probably damaging Het
Serpinc1 T G 1: 160,817,028 (GRCm39) C41G probably damaging Het
Siglece A T 7: 43,309,486 (GRCm39) V24D probably benign Het
Sparcl1 T A 5: 104,233,574 (GRCm39) R592W probably null Het
Stard13 A G 5: 150,987,090 (GRCm39) S104P probably damaging Het
Ston2 A G 12: 91,614,905 (GRCm39) V501A possibly damaging Het
Sv2b C A 7: 74,855,833 (GRCm39) probably null Het
Tiam1 T C 16: 89,681,932 (GRCm39) R349G probably damaging Het
Tmprss11g A G 5: 86,639,976 (GRCm39) probably null Het
Tnik G T 3: 28,650,321 (GRCm39) R507L probably damaging Het
Trabd2b G T 4: 114,460,113 (GRCm39) S417I probably damaging Het
Ube2q1 T A 3: 89,681,308 (GRCm39) V97E probably benign Het
Vim A T 2: 13,584,265 (GRCm39) N306Y probably damaging Het
Vmn1r216 G T 13: 23,283,979 (GRCm39) A221S possibly damaging Het
Vmn2r113 G A 17: 23,177,372 (GRCm39) A719T probably benign Het
Vmn2r66 A G 7: 84,654,794 (GRCm39) probably null Het
Vps45 T C 3: 95,948,661 (GRCm39) S365G probably benign Het
Zzz3 T A 3: 152,134,290 (GRCm39) C449* probably null Het
Other mutations in Rps27a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01419:Rps27a APN 11 29,496,353 (GRCm39) missense probably benign 0.03
IGL02189:Rps27a APN 11 29,496,772 (GRCm39) missense probably damaging 0.99
R1834:Rps27a UTSW 11 29,496,299 (GRCm39) missense probably benign 0.01
R1964:Rps27a UTSW 11 29,497,229 (GRCm39) missense probably null 0.80
R4290:Rps27a UTSW 11 29,495,933 (GRCm39) missense probably benign 0.08
R6027:Rps27a UTSW 11 29,497,808 (GRCm39) unclassified probably benign
R8680:Rps27a UTSW 11 29,495,998 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTTAAGGAGGCTCAGGAATCCAG -3'
(R):5'- GTTACAGAGAAAGTTCCAGGGC -3'

Sequencing Primer
(F):5'- CTCAGGAATCCAGTTCAAGTTGGC -3'
(R):5'- CAGAGAAAGTTCCAGGGCTTTTACTC -3'
Posted On 2021-01-18