Incidental Mutation 'R2278:Rps27l'
ID 242913
Institutional Source Beutler Lab
Gene Symbol Rps27l
Ensembl Gene ENSMUSG00000036781
Gene Name ribosomal protein S27-like
Synonyms 1810034D23Rik
MMRRC Submission 040277-MU
Accession Numbers
Essential gene? Not available question?
Stock # R2278 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 66853368-66856798 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 66854208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 34 (D34E)
Ref Sequence ENSEMBL: ENSMUSP00000120518 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040917] [ENSMUST00000127896] [ENSMUST00000147394]
AlphaFold Q6ZWY3
Predicted Effect probably benign
Transcript: ENSMUST00000040917
AA Change: D34E

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000046016
Gene: ENSMUSG00000036781
AA Change: D34E

DomainStartEndE-ValueType
low complexity region 13 22 N/A INTRINSIC
Pfam:Ribosomal_S27e 28 82 1.1e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123931
Predicted Effect probably benign
Transcript: ENSMUST00000127896
AA Change: D34E

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120518
Gene: ENSMUSG00000036781
AA Change: D34E

DomainStartEndE-ValueType
low complexity region 13 22 N/A INTRINSIC
Pfam:Ribosomal_S27e 28 82 3.3e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143044
Predicted Effect probably benign
Transcript: ENSMUST00000146573
Predicted Effect probably benign
Transcript: ENSMUST00000147394
AA Change: D34E

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000118963
Gene: ENSMUSG00000036781
AA Change: D34E

DomainStartEndE-ValueType
low complexity region 13 22 N/A INTRINSIC
Pfam:Ribosomal_S27e 28 77 1.2e-31 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein sharing 96% amino acid similarity with ribosomal protein S27, which suggests the encoded protein may be a component of the 40S ribosomal subunit. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete postnatal lethality, decreased body weight, hypoplasia of the thymus cortex and liver, and decreased HSC numbers and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T C 8: 25,201,400 (GRCm39) D251G probably damaging Het
Aqp3 T C 4: 41,093,836 (GRCm39) D219G probably damaging Het
Arhgef15 C A 11: 68,842,517 (GRCm39) W404C probably damaging Het
Bdp1 T A 13: 100,197,847 (GRCm39) E846V probably damaging Het
Bdp1 C A 13: 100,197,838 (GRCm39) S849I probably benign Het
Bmp5 T A 9: 75,683,830 (GRCm39) N152K possibly damaging Het
Bpifb2 C T 2: 153,720,399 (GRCm39) Q53* probably null Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Clca3a1 A G 3: 144,463,785 (GRCm39) V164A probably damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Gcn1 T C 5: 115,749,234 (GRCm39) I1922T probably damaging Het
Gnpat A G 8: 125,603,659 (GRCm39) D179G probably benign Het
Hook1 A G 4: 95,886,957 (GRCm39) Q188R probably benign Het
Hsf4 G A 8: 105,996,628 (GRCm39) D18N probably null Het
Ifi44 T C 3: 151,438,025 (GRCm39) N421D probably benign Het
Igdcc4 C T 9: 65,038,025 (GRCm39) T801I probably damaging Het
Itgad T C 7: 127,804,342 (GRCm39) S107P possibly damaging Het
Kank2 C A 9: 21,681,080 (GRCm39) M816I probably damaging Het
Kcnk18 T C 19: 59,223,926 (GRCm39) I357T probably damaging Het
Kcnma1 T A 14: 23,593,151 (GRCm39) R120* probably null Het
Lgi4 T G 7: 30,760,037 (GRCm39) L78V probably damaging Het
Lypla1 T G 1: 4,911,321 (GRCm39) probably null Het
Mknk1 C T 4: 115,732,690 (GRCm39) A306V probably damaging Het
Ncoa6 A T 2: 155,249,570 (GRCm39) S1245T possibly damaging Het
Npas3 T A 12: 53,687,285 (GRCm39) V122E possibly damaging Het
Nrxn2 G C 19: 6,531,883 (GRCm39) Q789H probably damaging Het
Or2h1b A T 17: 37,462,145 (GRCm39) C239* probably null Het
Or3a1 T C 11: 74,225,991 (GRCm39) E22G probably benign Het
Or5p69 T C 7: 107,967,288 (GRCm39) V197A probably benign Het
Or5w12 A G 2: 87,502,289 (GRCm39) C141R possibly damaging Het
Otog G A 7: 45,949,468 (GRCm39) V2369M probably damaging Het
Pfkp T C 13: 6,669,245 (GRCm39) probably null Het
Pja2 T C 17: 64,599,865 (GRCm39) S478G probably damaging Het
Prune2 A G 19: 17,095,919 (GRCm39) I474M possibly damaging Het
Psg22 C A 7: 18,460,762 (GRCm39) Q464K possibly damaging Het
Rp1 C T 1: 4,418,250 (GRCm39) S954N possibly damaging Het
Sae1 A C 7: 16,104,291 (GRCm39) L106R probably damaging Het
Siglec1 T A 2: 130,913,257 (GRCm39) Q1553L probably benign Het
Slc11a2 A G 15: 100,307,962 (GRCm39) probably null Het
Slc14a2 A T 18: 78,203,159 (GRCm39) M556K probably benign Het
Slk T G 19: 47,608,188 (GRCm39) I380M probably damaging Het
Spink5 A G 18: 44,119,396 (GRCm39) N236D probably benign Het
Syne2 A G 12: 75,974,240 (GRCm39) E1146G possibly damaging Het
Tiam2 G A 17: 3,477,495 (GRCm39) V573M probably damaging Het
Tmem170 C A 8: 112,596,349 (GRCm39) V59L probably benign Het
Tmem255b C T 8: 13,501,081 (GRCm39) A106V probably damaging Het
Ttc23l A G 15: 10,523,678 (GRCm39) I347T possibly damaging Het
Vps13c A G 9: 67,846,354 (GRCm39) M2141V probably benign Het
Vwa5a T C 9: 38,634,503 (GRCm39) Y143H probably damaging Het
Zfp280d T A 9: 72,246,055 (GRCm39) C707* probably null Het
Zfp668 A T 7: 127,465,998 (GRCm39) N395K probably benign Het
Znhit6 G T 3: 145,281,991 (GRCm39) probably benign Het
Other mutations in Rps27l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00581:Rps27l APN 9 66,854,207 (GRCm39) missense possibly damaging 0.89
IGL01900:Rps27l APN 9 66,854,225 (GRCm39) splice site probably benign
R1878:Rps27l UTSW 9 66,854,911 (GRCm39) splice site probably null
Z1177:Rps27l UTSW 9 66,856,617 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- GCCAAACGACAAAGGGGTTC -3'
(R):5'- GTCAACGTATCCTTTACCTGGC -3'

Sequencing Primer
(F):5'- AAGTTAGGGTCTTAAGTACCCCC -3'
(R):5'- GGCTCCCATATGTTTCTACAAAGG -3'
Posted On 2014-10-16