Incidental Mutation 'R3891:Rpl13'
ID 310397
Institutional Source Beutler Lab
Gene Symbol Rpl13
Ensembl Gene ENSMUSG00000000740
Gene Name ribosomal protein L13
Synonyms L13
MMRRC Submission 040803-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # R3891 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 123829089-123831983 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 123831907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 201 (E201G)
Ref Sequence ENSEMBL: ENSMUSP00000000756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000756] [ENSMUST00000127664]
AlphaFold P47963
Predicted Effect probably damaging
Transcript: ENSMUST00000000756
AA Change: E201G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000000756
Gene: ENSMUSG00000000740
AA Change: E201G

DomainStartEndE-ValueType
Pfam:Ribosomal_L13e 8 184 5.6e-83 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082516
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132275
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184697
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212887
Meta Mutation Damage Score 0.3196 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 A G 4: 128,655,847 (GRCm39) T72A probably damaging Het
Ascc3 T A 10: 50,718,289 (GRCm39) I1994N probably damaging Het
C1qb A T 4: 136,607,727 (GRCm39) V212E probably damaging Het
Cfap54 T A 10: 92,874,708 (GRCm39) I563F possibly damaging Het
Clip2 T C 5: 134,551,847 (GRCm39) K92E probably damaging Het
Clrn3 T C 7: 135,120,194 (GRCm39) T131A possibly damaging Het
Col9a1 T C 1: 24,224,517 (GRCm39) probably null Het
Def8 T C 8: 124,185,083 (GRCm39) probably benign Het
Diaph1 C A 18: 38,033,691 (GRCm39) probably benign Het
Dmrta1 A T 4: 89,579,831 (GRCm39) I264F possibly damaging Het
Dscaml1 A T 9: 45,628,782 (GRCm39) D1112V possibly damaging Het
Ehbp1l1 A G 19: 5,768,340 (GRCm39) S988P possibly damaging Het
Gabrr2 A G 4: 33,081,348 (GRCm39) Y4C probably damaging Het
Gm10088 T C 16: 18,847,001 (GRCm39) noncoding transcript Het
Gm5616 A G 9: 48,361,809 (GRCm39) noncoding transcript Het
H2-T24 T A 17: 36,326,330 (GRCm39) I190F possibly damaging Het
Hmcn1 A T 1: 150,510,946 (GRCm39) D3592E probably damaging Het
Il1rap A G 16: 26,495,606 (GRCm39) Y71C probably damaging Het
Krt1 T A 15: 101,758,847 (GRCm39) S106C unknown Het
Lsamp T C 16: 39,805,054 (GRCm39) V11A probably benign Het
Mob1b T A 5: 88,901,061 (GRCm39) I156K probably damaging Het
Naip2 T A 13: 100,297,606 (GRCm39) E810V probably damaging Het
Nfe2l1 A G 11: 96,710,823 (GRCm39) S181P possibly damaging Het
Nos1ap T C 1: 170,177,025 (GRCm39) Y126C probably damaging Het
Nuak2 G T 1: 132,259,223 (GRCm39) A342S possibly damaging Het
Or10ah1-ps1 G T 5: 143,123,152 (GRCm39) S290R probably benign Het
Or2aj5 A G 16: 19,425,205 (GRCm39) I71T probably damaging Het
Or2t1 T A 14: 14,328,114 (GRCm38) M1K probably null Het
Pcdhb16 A T 18: 37,612,422 (GRCm39) I461F probably benign Het
Pcdhga10 A C 18: 37,882,534 (GRCm39) H765P probably benign Het
Pex2 C T 3: 5,626,008 (GRCm39) C267Y probably damaging Het
Pgghg T C 7: 140,525,616 (GRCm39) I473T probably damaging Het
Polr2e G T 10: 79,873,213 (GRCm39) P80T probably benign Het
Pum1 T C 4: 130,491,393 (GRCm39) L774P probably damaging Het
Rasef A G 4: 73,698,634 (GRCm39) V9A probably benign Het
Skint2 A G 4: 112,481,383 (GRCm39) E82G probably damaging Het
Skor2 A G 18: 76,946,350 (GRCm39) D24G unknown Het
Slc19a3 A T 1: 83,000,678 (GRCm39) F113Y probably damaging Het
Slc29a3 T A 10: 60,552,040 (GRCm39) K335* probably null Het
Slc30a6 T A 17: 74,726,541 (GRCm39) D282E probably benign Het
Slc9a7 A G X: 20,052,352 (GRCm39) F247S probably damaging Het
Slx4 A T 16: 3,797,773 (GRCm39) I1537N probably damaging Het
Specc1 C T 11: 62,042,739 (GRCm39) T872M probably benign Het
Stard10 G A 7: 100,993,137 (GRCm39) R231Q possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tesl1 A G X: 23,773,180 (GRCm39) Y227C probably damaging Het
Vwa1 T C 4: 155,857,651 (GRCm39) E49G probably damaging Het
Zc3h12a A G 4: 125,020,678 (GRCm39) F55S probably damaging Het
Zmym4 A G 4: 126,798,269 (GRCm39) I786T probably benign Het
Other mutations in Rpl13
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0945:Rpl13 UTSW 8 123,831,913 (GRCm39) missense possibly damaging 0.48
R6913:Rpl13 UTSW 8 123,830,014 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- TCGCAACCTGACAAATAGTGGG -3'
(R):5'- GGCCCAAAATGCTGAAACTC -3'

Sequencing Primer
(F):5'- CAACCTGACAAATAGTGGGGATTTAC -3'
(R):5'- GCTGAAACTCAATCACATCTCTTAGG -3'
Posted On 2015-04-17