Incidental Mutation 'R9205:Rpl38'
ID 698466
Institutional Source Beutler Lab
Gene Symbol Rpl38
Ensembl Gene ENSMUSG00000057322
Gene Name ribosomal protein L38
Synonyms Ts, Rbt, Tss, 0610025G13Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9205 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 114668524-114672331 bp(+) (GRCm38)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 114672288 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Stop codon to Arginine at position 71 (*71R)
Ref Sequence ENSEMBL: ENSMUSP00000102211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045779] [ENSMUST00000077915] [ENSMUST00000082092] [ENSMUST00000106599] [ENSMUST00000106602]
AlphaFold Q9JJI8
Predicted Effect probably benign
Transcript: ENSMUST00000045779
SMART Domains Protein: ENSMUSP00000037821
Gene: ENSMUSG00000034714

Pfam:Tweety 27 433 2.5e-184 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000077915
AA Change: *71R
SMART Domains Protein: ENSMUSP00000102211
Gene: ENSMUSG00000057322
AA Change: *71R

Pfam:Ribosomal_L38e 2 69 1.6e-36 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000082092
AA Change: *71R
SMART Domains Protein: ENSMUSP00000080741
Gene: ENSMUSG00000057322
AA Change: *71R

Pfam:Ribosomal_L38e 2 69 1.6e-36 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106599
AA Change: *71R
SMART Domains Protein: ENSMUSP00000102209
Gene: ENSMUSG00000057322
AA Change: *71R

Pfam:Ribosomal_L38e 2 69 1.6e-36 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106602
AA Change: *71R
SMART Domains Protein: ENSMUSP00000102213
Gene: ENSMUSG00000057322
AA Change: *71R

Pfam:Ribosomal_L38e 2 69 3.9e-40 PFAM
Meta Mutation Damage Score 0.9659 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.3%
Validation Efficiency 95% (76/80)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp2 T A 6: 140,642,228 H341Q probably damaging Het
Apob G A 12: 7,980,635 A125T probably damaging Het
Bace2 G T 16: 97,356,859 A20S unknown Het
Bcar1 T C 8: 111,715,709 Y238C probably damaging Het
Brinp3 A T 1: 146,902,089 D758V possibly damaging Het
Btnl10 T C 11: 58,920,519 S223P probably damaging Het
Cckar C T 5: 53,707,245 probably null Het
Cdhr2 A G 13: 54,713,988 N66S probably benign Het
Chd9 A G 8: 91,030,642 M1890V probably benign Het
Col6a5 C T 9: 105,878,638 G2196R probably damaging Het
Col9a1 T G 1: 24,185,094 M119R unknown Het
Cryaa A G 17: 31,679,668 H123R probably damaging Het
Cux1 A T 5: 136,370,135 D171E probably damaging Het
Dgkz T A 2: 91,933,799 T1067S probably benign Het
Dnah11 C T 12: 118,027,516 E2372K probably damaging Het
Dnah5 T C 15: 28,448,334 M4181T possibly damaging Het
Dnajb14 A G 3: 137,908,384 E352G possibly damaging Het
Dnmt3l T A 10: 78,056,752 probably null Het
Dph6 T C 2: 114,569,514 I117V probably damaging Het
Dsg1a A G 18: 20,340,171 D767G probably damaging Het
Edn3 C T 2: 174,761,689 P77S possibly damaging Het
Elmsan1 A C 12: 84,152,887 F1020V probably benign Het
Fbln7 A C 2: 128,895,248 S328R probably null Het
Fbn2 T C 18: 58,059,356 R1518G probably damaging Het
Foxi2 A T 7: 135,411,796 T252S probably benign Het
Foxred2 A G 15: 77,952,006 S384P probably damaging Het
Gdpd1 G A 11: 87,045,183 H174Y probably benign Het
Gm10542 A C 18: 44,204,638 D61A possibly damaging Het
H2-Ab1 A G 17: 34,265,007 E114G probably damaging Het
Htt C T 5: 34,819,023 T723M probably benign Het
Igfn1 C T 1: 135,975,957 V348I probably damaging Het
Itpr1 T A 6: 108,489,849 L2173Q probably damaging Het
Lamp5 A G 2: 136,059,601 Y115C probably damaging Het
Lrp1 T A 10: 127,594,981 K400* probably null Het
Man2a2 C T 7: 80,361,120 V708I probably benign Het
Matr3 T C 18: 35,587,721 S746P probably benign Het
Me1 C T 9: 86,598,794 V353M probably benign Het
Nbeal1 T A 1: 60,278,680 D1925E probably damaging Het
Oca2 T A 7: 56,316,420 F387I probably damaging Het
Olfr1163 T A 2: 88,070,434 H316L probably benign Het
Olfr181 T G 16: 58,926,122 I150L probably benign Het
Olfr181 G T 16: 58,926,123 F149L probably benign Het
Olfr212 T A 6: 116,516,354 N192K probably benign Het
Olfr420 T C 1: 174,158,890 I39T probably benign Het
Olfr912 T A 9: 38,582,077 S267T probably benign Het
Opn3 G T 1: 175,663,089 N335K probably benign Het
Osm A G 11: 4,238,504 N44D possibly damaging Het
Otop2 T C 11: 115,329,086 Y251H probably damaging Het
Pappa T C 4: 65,156,375 S389P possibly damaging Het
Polr1d C T 5: 147,101,258 A19V probably damaging Het
Ptchd4 G A 17: 42,503,385 V726M probably benign Het
Pzp T A 6: 128,496,663 D731V probably benign Het
Rgl2 A T 17: 33,936,028 I669F probably damaging Het
Rufy1 G A 11: 50,398,474 R514W probably damaging Het
Ruvbl2 G A 7: 45,434,317 probably benign Het
Scn9a T G 2: 66,533,313 I874L probably damaging Het
Slc14a2 A G 18: 78,195,736 S85P probably benign Het
Slc17a1 A G 13: 23,878,811 I287V probably benign Het
Slc35f3 T A 8: 126,389,189 I285N probably damaging Het
Slx4 A G 16: 3,988,063 S542P possibly damaging Het
Sox30 A T 11: 46,017,353 L782F probably damaging Het
Sspo A G 6: 48,455,872 N894S probably benign Het
Syne1 G A 10: 5,202,013 Q5765* probably null Het
Taar7e T C 10: 24,038,074 I154T probably benign Het
Tars A G 15: 11,397,179 probably null Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,160,856 probably null Het
Tmem198b A T 10: 128,803,188 C29S probably damaging Het
Tnr A C 1: 159,895,047 M1021L probably benign Het
Tom1l1 G A 11: 90,657,818 P309L probably damaging Het
Traf4 A G 11: 78,161,101 S186P probably benign Het
Trpm1 T G 7: 64,240,571 V974G possibly damaging Het
Tsga10 T A 1: 37,841,278 probably benign Het
Tyw1 G A 5: 130,269,224 R202Q probably damaging Het
Vmn2r93 A T 17: 18,304,019 I92F probably damaging Het
Zfp457 A T 13: 67,293,901 D203E probably benign Het
Zfp518b G A 5: 38,674,158 S168F probably damaging Het
Zfp7 TGCGGGAAAGGTTTCCACCTGAGCG TGCG 15: 76,890,600 probably benign Het
Zfp777 G A 6: 48,025,587 T523M probably benign Het
Other mutations in Rpl38
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1938:Rpl38 UTSW 11 114671776 missense probably benign 0.31
R3018:Rpl38 UTSW 11 114668935 missense possibly damaging 0.69
R6687:Rpl38 UTSW 11 114668768 splice site probably benign
R8482:Rpl38 UTSW 11 114672288 makesense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-02-07