Incidental Mutation 'R3176:Mrpl19'
ID 259134
Institutional Source Beutler Lab
Gene Symbol Mrpl19
Ensembl Gene ENSMUSG00000030045
Gene Name mitochondrial ribosomal protein L19
Synonyms D6Ertd157e, RLX1, MRP-L15, Rpml15, 9030416F12Rik
MMRRC Submission 040614-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.928) question?
Stock # R3176 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 81934832-81942939 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81941047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 115 (S115G)
Ref Sequence ENSEMBL: ENSMUSP00000032124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032124] [ENSMUST00000043195] [ENSMUST00000152996]
AlphaFold Q9D338
Predicted Effect probably damaging
Transcript: ENSMUST00000032124
AA Change: S115G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032124
Gene: ENSMUSG00000030045
AA Change: S115G

low complexity region 60 74 N/A INTRINSIC
Pfam:Ribosomal_L19 92 198 9e-19 PFAM
SCOP:d1fura_ 214 282 2e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000043195
SMART Domains Protein: ENSMUSP00000035644
Gene: ENSMUSG00000035125

low complexity region 16 24 N/A INTRINSIC
low complexity region 43 66 N/A INTRINSIC
low complexity region 97 111 N/A INTRINSIC
low complexity region 164 175 N/A INTRINSIC
low complexity region 193 210 N/A INTRINSIC
coiled coil region 255 308 N/A INTRINSIC
low complexity region 392 406 N/A INTRINSIC
Pfam:GCFC 456 672 3e-34 PFAM
low complexity region 753 763 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128374
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148025
Predicted Effect probably benign
Transcript: ENSMUST00000152996
SMART Domains Protein: ENSMUSP00000138136
Gene: ENSMUSG00000035125

low complexity region 16 24 N/A INTRINSIC
low complexity region 43 66 N/A INTRINSIC
low complexity region 97 111 N/A INTRINSIC
low complexity region 164 175 N/A INTRINSIC
low complexity region 193 210 N/A INTRINSIC
Meta Mutation Damage Score 0.7370 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 100% (28/28)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 C T 8: 87,233,495 (GRCm39) R1269H probably damaging Het
Ace A G 11: 105,867,528 (GRCm39) E164G probably null Het
Als2 A T 1: 59,209,167 (GRCm39) V1464E possibly damaging Het
Atox1 A G 11: 55,341,379 (GRCm39) L52P possibly damaging Het
Btnl10 A G 11: 58,813,216 (GRCm39) K282E probably benign Het
Cdkn3 T C 14: 47,008,934 (GRCm39) probably benign Het
Ces2a A G 8: 105,466,010 (GRCm39) probably benign Het
Col16a1 A G 4: 129,951,792 (GRCm39) K72E probably damaging Het
Col6a5 G A 9: 105,788,306 (GRCm39) R1565* probably null Het
Col6a6 T C 9: 105,663,429 (GRCm39) H36R probably benign Het
Cyp4b1 T C 4: 115,483,047 (GRCm39) N415D possibly damaging Het
Dcp1a A G 14: 30,227,499 (GRCm39) probably benign Het
Dennd4a G T 9: 64,796,275 (GRCm39) R767L probably damaging Het
Dhcr24 T C 4: 106,418,436 (GRCm39) F25L probably benign Het
Dhrs3 A G 4: 144,650,510 (GRCm39) T219A probably benign Het
Dhx58 A G 11: 100,587,805 (GRCm39) F584S probably damaging Het
Dmbt1 A G 7: 130,689,801 (GRCm39) T715A probably benign Het
Dtx3l A G 16: 35,752,543 (GRCm39) S688P probably benign Het
Eogt T A 6: 97,108,355 (GRCm39) I229F probably benign Het
Ern2 T C 7: 121,780,187 (GRCm39) T164A possibly damaging Het
Fam133b A T 5: 3,608,522 (GRCm39) N84I probably damaging Het
Fbxl21 T A 13: 56,684,935 (GRCm39) Y346* probably null Het
Fcgbp C A 7: 27,791,086 (GRCm39) H782Q probably damaging Het
Gm5592 A G 7: 40,937,804 (GRCm39) E362G probably benign Het
Gpatch2l A G 12: 86,291,089 (GRCm39) T91A possibly damaging Het
Hao2 T C 3: 98,787,644 (GRCm39) probably benign Het
Hsp90aa1 T A 12: 110,662,114 (GRCm39) M1L possibly damaging Het
Hsp90aa1 C A 12: 110,662,115 (GRCm39) probably null Het
Itgad C A 7: 127,790,153 (GRCm39) H651N possibly damaging Het
Itgav A G 2: 83,606,886 (GRCm39) D409G probably damaging Het
Kcnt2 A G 1: 140,537,377 (GRCm39) N1119S probably benign Het
Kif15 T C 9: 122,816,905 (GRCm39) probably benign Het
Klhl32 T C 4: 24,682,063 (GRCm39) I207V probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lhfpl5 T C 17: 28,798,920 (GRCm39) I143T possibly damaging Het
Lrrk1 T C 7: 65,955,269 (GRCm39) K431E possibly damaging Het
Mag C T 7: 30,601,073 (GRCm39) probably null Het
Maml3 A T 3: 51,764,351 (GRCm39) N204K possibly damaging Het
Mmut A G 17: 41,269,763 (GRCm39) probably null Het
Mthfd1l G C 10: 4,098,025 (GRCm39) G954A probably damaging Het
Myo19 A G 11: 84,783,001 (GRCm39) I172V probably benign Het
Naca T C 10: 127,876,530 (GRCm39) probably benign Het
Nbeal2 G A 9: 110,465,955 (GRCm39) probably benign Het
Nfatc2 T C 2: 168,348,914 (GRCm39) N638D possibly damaging Het
Or52r1c C A 7: 102,734,957 (GRCm39) D72E probably damaging Het
Or8b49 T A 9: 38,505,939 (GRCm39) C141S probably damaging Het
Or9s27 A G 1: 92,516,535 (GRCm39) N161S probably benign Het
Padi6 A G 4: 140,462,700 (GRCm39) L307P probably damaging Het
Pafah1b1 G A 11: 74,581,058 (GRCm39) S57F probably damaging Het
Prcd A G 11: 116,550,637 (GRCm39) E103G possibly damaging Het
Prkx A T X: 76,814,881 (GRCm39) F260I probably damaging Het
Rad54l2 A G 9: 106,631,142 (GRCm39) probably null Het
Rb1cc1 T A 1: 6,319,590 (GRCm39) M1003K probably benign Het
Scap A T 9: 110,203,093 (GRCm39) M256L probably benign Het
Sema4c C T 1: 36,588,960 (GRCm39) R722H possibly damaging Het
Septin4 T C 11: 87,458,070 (GRCm39) V148A possibly damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Spata7 A G 12: 98,603,857 (GRCm39) N75D possibly damaging Het
Tmem120b T A 5: 123,252,167 (GRCm39) I146N probably damaging Het
Ttc23l A G 15: 10,547,318 (GRCm39) F99L possibly damaging Het
Ube3a T A 7: 58,926,267 (GRCm39) C348* probably null Het
Ubr4 T A 4: 139,149,166 (GRCm39) D1777E probably benign Het
Unc79 C A 12: 103,079,476 (GRCm39) D1880E probably damaging Het
Usp36 C T 11: 118,167,585 (GRCm39) probably null Het
Zswim9 T C 7: 13,011,196 (GRCm39) T51A possibly damaging Het
Other mutations in Mrpl19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00562:Mrpl19 APN 6 81,942,853 (GRCm39) missense probably benign 0.02
IGL00563:Mrpl19 APN 6 81,942,853 (GRCm39) missense probably benign 0.02
IGL02113:Mrpl19 APN 6 81,942,896 (GRCm39) missense probably benign
IGL02116:Mrpl19 APN 6 81,942,758 (GRCm39) missense probably benign 0.41
IGL02256:Mrpl19 APN 6 81,941,300 (GRCm39) missense probably benign 0.06
IGL02347:Mrpl19 APN 6 81,938,992 (GRCm39) missense probably damaging 0.99
IGL02415:Mrpl19 APN 6 81,940,942 (GRCm39) missense probably benign 0.29
IGL02825:Mrpl19 APN 6 81,942,796 (GRCm39) missense probably benign 0.25
IGL03189:Mrpl19 APN 6 81,938,974 (GRCm39) nonsense probably null
R1824:Mrpl19 UTSW 6 81,941,060 (GRCm39) splice site probably null
R2310:Mrpl19 UTSW 6 81,941,054 (GRCm39) splice site probably null
R3276:Mrpl19 UTSW 6 81,941,047 (GRCm39) missense probably damaging 0.99
R3821:Mrpl19 UTSW 6 81,938,987 (GRCm39) nonsense probably null
R4705:Mrpl19 UTSW 6 81,941,266 (GRCm39) missense probably damaging 0.99
R4736:Mrpl19 UTSW 6 81,941,329 (GRCm39) missense probably damaging 1.00
R5464:Mrpl19 UTSW 6 81,938,992 (GRCm39) missense probably damaging 0.99
R7408:Mrpl19 UTSW 6 81,942,793 (GRCm39) missense possibly damaging 0.65
R7835:Mrpl19 UTSW 6 81,939,107 (GRCm39) missense probably damaging 1.00
R7956:Mrpl19 UTSW 6 81,940,962 (GRCm39) missense probably benign 0.00
R8432:Mrpl19 UTSW 6 81,939,136 (GRCm39) missense probably damaging 1.00
Z1177:Mrpl19 UTSW 6 81,941,291 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-01-23