Incidental Mutation 'R3018:Rpl38'
ID 257693
Institutional Source Beutler Lab
Gene Symbol Rpl38
Ensembl Gene ENSMUSG00000057322
Gene Name ribosomal protein L38
Synonyms Rbt, Ts, 0610025G13Rik, Tss
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3018 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 114559350-114563157 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 114559761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 11 (F11L)
Ref Sequence ENSEMBL: ENSMUSP00000102213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077915] [ENSMUST00000082092] [ENSMUST00000106599] [ENSMUST00000106602]
AlphaFold Q9JJI8
Predicted Effect possibly damaging
Transcript: ENSMUST00000077915
AA Change: F11L

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102211
Gene: ENSMUSG00000057322
AA Change: F11L

DomainStartEndE-ValueType
Pfam:Ribosomal_L38e 2 69 1.6e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000082092
AA Change: F11L

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000080741
Gene: ENSMUSG00000057322
AA Change: F11L

DomainStartEndE-ValueType
Pfam:Ribosomal_L38e 2 69 1.6e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106599
AA Change: F11L

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102209
Gene: ENSMUSG00000057322
AA Change: F11L

DomainStartEndE-ValueType
Pfam:Ribosomal_L38e 2 69 1.6e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106602
AA Change: F11L

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102213
Gene: ENSMUSG00000057322
AA Change: F11L

DomainStartEndE-ValueType
Pfam:Ribosomal_L38e 2 69 3.9e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120766
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.7%
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 60S subunit. The protein belongs to the L38E family of ribosomal proteins. It is located in the cytoplasm. Alternative splice variants have been identified, both encoding the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome, including one located in the promoter region of the type 1 angiotensin II receptor gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene affect growth and tail formation, and result in anterior and posterior homeotic vertebral transformations along the axial skeleton along with other abnormalities depending on genetic background. Homozygotes die in the early embryonic period. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd T C 1: 127,676,853 (GRCm39) V126A probably benign Het
Bahd1 C T 2: 118,746,887 (GRCm39) P169S probably damaging Het
Dnm3 T A 1: 162,149,328 (GRCm39) K206* probably null Het
Grxcr1 C T 5: 68,267,860 (GRCm39) S203F probably damaging Het
Matn3 A T 12: 9,013,578 (GRCm39) D420V probably benign Het
Mlf2 G T 6: 124,909,467 (GRCm39) M48I probably benign Het
Moxd2 T A 6: 40,855,820 (GRCm39) T590S probably benign Het
Myh2 A G 11: 67,070,410 (GRCm39) D451G possibly damaging Het
Neurod4 T C 10: 130,106,824 (GRCm39) E150G probably damaging Het
Nynrin A T 14: 56,100,867 (GRCm39) E219V probably benign Het
Rad51ap1 T C 6: 126,916,485 (GRCm39) probably null Het
Serinc5 T C 13: 92,825,189 (GRCm39) M206T probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Tnk1 C T 11: 69,745,737 (GRCm39) probably benign Het
Trim41 G T 11: 48,698,521 (GRCm39) R482S probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Zfp292 G A 4: 34,808,814 (GRCm39) T1410I probably damaging Het
Other mutations in Rpl38
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1938:Rpl38 UTSW 11 114,562,602 (GRCm39) missense probably benign 0.31
R6687:Rpl38 UTSW 11 114,559,594 (GRCm39) splice site probably benign
R8482:Rpl38 UTSW 11 114,563,114 (GRCm39) makesense probably null
R9205:Rpl38 UTSW 11 114,563,114 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- GTTAACTCGGGATTGTACCCC -3'
(R):5'- CGCACTCGCTTATTTGGAAGC -3'

Sequencing Primer
(F):5'- GCGTCGCCATGGTGAGT -3'
(R):5'- TACTGAACTACAAGGCTCGCTGTG -3'
Posted On 2015-01-11