Incidental Mutation 'R7755:Rpl19'
ID 597513
Institutional Source Beutler Lab
Gene Symbol Rpl19
Ensembl Gene ENSMUSG00000017404
Gene Name ribosomal protein L19
Synonyms
MMRRC Submission 045811-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R7755 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 97917536-97921318 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97919193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 45 (I45T)
Ref Sequence ENSEMBL: ENSMUSP00000017548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017548] [ENSMUST00000092425]
AlphaFold P84099
PDB Structure crystal structure of the non-classical MHC class Ib Qa-2 complexed with a self peptide [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000017548
AA Change: I45T

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000017548
Gene: ENSMUSG00000017404
AA Change: I45T

DomainStartEndE-ValueType
Pfam:Ribosomal_L19e 3 146 3e-72 PFAM
low complexity region 159 183 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092425
AA Change: I43T

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103181
Gene: ENSMUSG00000017404
AA Change: I43T

DomainStartEndE-ValueType
Pfam:Ribosomal_L19e 1 149 7.2e-66 PFAM
low complexity region 157 181 N/A INTRINSIC
Meta Mutation Damage Score 0.7003 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (52/53)
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 L19E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G A 12: 71,236,187 (GRCm39) M1179I probably benign Het
4930402F06Rik T C 2: 35,266,349 (GRCm39) Y107C probably damaging Het
Aff4 T C 11: 53,289,206 (GRCm39) S452P probably damaging Het
Astn2 T C 4: 65,712,795 (GRCm39) D615G probably damaging Het
Begain A G 12: 109,018,802 (GRCm39) L215P probably benign Het
Carf T A 1: 60,187,214 (GRCm39) S606T probably benign Het
Cngb3 A T 4: 19,461,684 (GRCm39) T522S probably benign Het
Ctsll3 A T 13: 60,948,219 (GRCm39) F153I probably damaging Het
Cubn G A 2: 13,284,889 (GRCm39) T3509I probably benign Het
Dmrta1 T C 4: 89,580,170 (GRCm39) S377P probably benign Het
Dnmbp G A 19: 43,838,525 (GRCm39) A659V probably benign Het
Dspp TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG 5: 104,326,227 (GRCm39) probably benign Het
Dync2h1 T C 9: 7,015,490 (GRCm39) D3598G probably benign Het
Elp1 T C 4: 56,774,552 (GRCm39) N779S possibly damaging Het
Flot2 T C 11: 77,940,339 (GRCm39) F29L probably benign Het
Hectd1 A T 12: 51,849,003 (GRCm39) I367K possibly damaging Het
Ivl T A 3: 92,479,317 (GRCm39) K249N probably damaging Het
Khnyn A G 14: 56,125,425 (GRCm39) T503A probably damaging Het
Mbd4 T A 6: 115,821,546 (GRCm39) I490F probably damaging Het
Mlip T C 9: 77,136,838 (GRCm39) T690A probably benign Het
Mmp1a T A 9: 7,467,005 (GRCm39) D227E possibly damaging Het
Mrgprf T C 7: 144,862,380 (GRCm39) L314P probably damaging Het
Ndufb9 T G 15: 58,808,255 (GRCm39) Y80* probably null Het
Neto2 C T 8: 86,396,285 (GRCm39) R155H probably damaging Het
Npat T A 9: 53,470,470 (GRCm39) N365K possibly damaging Het
Nsl1 G A 1: 190,795,380 (GRCm39) V49M probably benign Het
Nudt21 T A 8: 94,749,493 (GRCm39) Y191F probably benign Het
Or2w25 A G 11: 59,504,467 (GRCm39) R226G probably damaging Het
Or8b54 T G 9: 38,687,073 (GRCm39) I174S possibly damaging Het
Pcdh18 T C 3: 49,709,278 (GRCm39) Y679C possibly damaging Het
Pkd1l3 A G 8: 110,356,798 (GRCm39) D741G possibly damaging Het
Pkhd1 T C 1: 20,617,717 (GRCm39) D956G probably damaging Het
Poglut2 T C 1: 44,157,733 (GRCm39) probably benign Het
Pparg C T 6: 115,440,067 (GRCm39) P214S probably damaging Het
Ppargc1a T A 5: 51,630,883 (GRCm39) Y582F unknown Het
Prdm9 C T 17: 15,765,226 (GRCm39) C518Y probably damaging Het
Rangrf T A 11: 68,864,540 (GRCm39) E2V probably damaging Het
Rtn4rl2 T C 2: 84,702,807 (GRCm39) D255G possibly damaging Het
Shld2 T C 14: 33,970,847 (GRCm39) K627E probably damaging Het
Sirt3 T C 7: 140,457,963 (GRCm39) D62G Het
Slc22a30 T C 19: 8,314,133 (GRCm39) T518A probably damaging Het
Slc40a1 T C 1: 45,950,466 (GRCm39) T329A probably damaging Het
Slc6a17 C T 3: 107,381,671 (GRCm39) G470D probably damaging Het
Syne2 A T 12: 76,044,181 (GRCm39) I3923L probably benign Het
Tiam2 C T 17: 3,471,591 (GRCm39) S411L probably benign Het
Ticam1 A G 17: 56,577,182 (GRCm39) C638R unknown Het
Tnrc6c A G 11: 117,648,912 (GRCm39) T1528A probably benign Het
Ufl1 A G 4: 25,262,274 (GRCm39) I404T probably benign Het
Usp43 A T 11: 67,782,294 (GRCm39) S375T possibly damaging Het
Vmn2r88 C G 14: 51,650,503 (GRCm39) A72G probably benign Het
Vmn2r91 A T 17: 18,330,311 (GRCm39) I532F possibly damaging Het
Vmn2r95 T C 17: 18,644,367 (GRCm39) M1T probably null Het
Xirp2 T C 2: 67,345,526 (GRCm39) V2589A probably benign Het
Zfp128 C T 7: 12,624,240 (GRCm39) Q203* probably null Het
Other mutations in Rpl19
AlleleSourceChrCoordTypePredicted EffectPPH Score
minutia UTSW 11 97,919,193 (GRCm39) missense probably benign 0.20
R0326:Rpl19 UTSW 11 97,919,200 (GRCm39) missense probably benign 0.13
R8870:Rpl19 UTSW 11 97,920,615 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- ACAGAAGCAAGCCTTGTTAGTATC -3'
(R):5'- CTTGCTGACAAGTGCTCTACC -3'

Sequencing Primer
(F):5'- GCAAGCCTTGTTAGTATCAGACC -3'
(R):5'- TGACAAGTGCTCTACCCAGTG -3'
Posted On 2019-11-26