Incidental Mutation 'IGL01900:Rps27l'
ID 179510
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rps27l
Ensembl Gene ENSMUSG00000036781
Gene Name ribosomal protein S27-like
Synonyms 1810034D23Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL01900
Quality Score
Status
Chromosome 9
Chromosomal Location 66853368-66856798 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 66854225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040917] [ENSMUST00000127896] [ENSMUST00000147394]
AlphaFold Q6ZWY3
Predicted Effect probably benign
Transcript: ENSMUST00000040917
SMART Domains Protein: ENSMUSP00000046016
Gene: ENSMUSG00000036781

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
SMART Domains Protein: ENSMUSP00000120518
Gene: ENSMUSG00000036781

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
SMART Domains Protein: ENSMUSP00000118963
Gene: ENSMUSG00000036781

DomainStartEndE-ValueType
low complexity region 13 22 N/A INTRINSIC
Pfam:Ribosomal_S27e 28 77 1.2e-31 PFAM
Coding Region Coverage
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc2 T C 11: 101,219,649 (GRCm39) Y627H probably damaging Het
Car14 T C 3: 95,808,533 (GRCm39) D27G probably benign Het
Col6a3 A G 1: 90,722,732 (GRCm39) probably null Het
Ddx60 T C 8: 62,453,743 (GRCm39) probably benign Het
Dhrs4 A G 14: 55,725,654 (GRCm39) E236G probably benign Het
Fpr1 T A 17: 18,097,783 (GRCm39) T69S probably damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hmcn1 A T 1: 150,618,011 (GRCm39) probably benign Het
Hook2 T C 8: 85,727,940 (GRCm39) probably benign Het
Krt6b C T 15: 101,585,981 (GRCm39) R364H possibly damaging Het
Myh2 T A 11: 67,074,609 (GRCm39) I720N probably benign Het
Optc A G 1: 133,829,867 (GRCm39) V181A possibly damaging Het
Or52n5 A G 7: 104,588,369 (GRCm39) D212G probably damaging Het
Ptprn A G 1: 75,228,892 (GRCm39) probably benign Het
Rnf213 A G 11: 119,333,841 (GRCm39) T3018A probably benign Het
Serpinb6c A T 13: 34,064,173 (GRCm39) M294K possibly damaging Het
Spef1l A T 7: 139,552,483 (GRCm39) V274E probably damaging Het
Tekt2 G T 4: 126,218,421 (GRCm39) T83K probably benign Het
Vmn2r62 T A 7: 42,438,495 (GRCm39) N114Y probably benign Het
Other mutations in Rps27l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00581:Rps27l APN 9 66,854,207 (GRCm39) missense possibly damaging 0.89
R1878:Rps27l UTSW 9 66,854,911 (GRCm39) splice site probably null
R2278:Rps27l UTSW 9 66,854,208 (GRCm39) missense probably benign 0.32
Z1177:Rps27l UTSW 9 66,856,617 (GRCm39) missense probably benign 0.04
Posted On 2014-05-07