Incidental Mutation 'R3972:Mrpl16'
ID 311047
Institutional Source Beutler Lab
Gene Symbol Mrpl16
Ensembl Gene ENSMUSG00000024683
Gene Name mitochondrial ribosomal protein L16
Synonyms 2310039D06Rik
MMRRC Submission 040840-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R3972 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 11747779-11752320 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11750239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 41 (N41S)
Ref Sequence ENSEMBL: ENSMUSP00000128915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047698] [ENSMUST00000069285] [ENSMUST00000075304] [ENSMUST00000167199] [ENSMUST00000211641]
AlphaFold Q99N93
Predicted Effect probably benign
Transcript: ENSMUST00000047698
SMART Domains Protein: ENSMUSP00000037317
Gene: ENSMUSG00000041488

DomainStartEndE-ValueType
SynN 27 146 5.39e-41 SMART
t_SNARE 186 253 1.07e-19 SMART
transmembrane domain 265 286 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000069285
SMART Domains Protein: ENSMUSP00000069529
Gene: ENSMUSG00000041488

DomainStartEndE-ValueType
SynN 27 146 5.39e-41 SMART
t_SNARE 186 253 6.87e-18 SMART
transmembrane domain 264 286 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000075304
SMART Domains Protein: ENSMUSP00000074776
Gene: ENSMUSG00000041488

DomainStartEndE-ValueType
SynN 27 128 1.13e-16 SMART
t_SNARE 168 235 1.07e-19 SMART
transmembrane domain 247 268 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167199
AA Change: N41S

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000128915
Gene: ENSMUSG00000024683
AA Change: N41S

DomainStartEndE-ValueType
Pfam:Ribosomal_L16 59 190 2.7e-30 PFAM
low complexity region 200 211 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000211641
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alk T G 17: 72,292,442 (GRCm39) D512A probably benign Het
Avl9 T C 6: 56,720,393 (GRCm39) F477S probably damaging Het
C7 C T 15: 5,037,133 (GRCm39) V582I possibly damaging Het
Cldn20 A G 17: 3,582,914 (GRCm39) N29S probably benign Het
Coro2b C T 9: 62,336,522 (GRCm39) A251T possibly damaging Het
Dnah3 T A 7: 119,685,943 (GRCm39) D131V probably damaging Het
Dusp12 T C 1: 170,707,344 (GRCm39) K248R probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fgf1 T C 18: 38,980,147 (GRCm39) T76A probably benign Het
Gucy2c C T 6: 136,685,364 (GRCm39) R859K probably damaging Het
Irf2bp1 T A 7: 18,739,369 (GRCm39) D336E possibly damaging Het
Lpar6 A G 14: 73,476,513 (GRCm39) H158R probably benign Het
Ltbp3 G A 19: 5,804,050 (GRCm39) R854Q probably benign Het
Lyst T C 13: 13,881,210 (GRCm39) C2814R possibly damaging Het
Man2b1 A G 8: 85,812,020 (GRCm39) N158S probably damaging Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Myo5b C T 18: 74,873,598 (GRCm39) L1501F probably damaging Het
Nudt9 G T 5: 104,194,991 (GRCm39) C29F probably benign Het
Or4d11 G T 19: 12,013,383 (GRCm39) T241N probably damaging Het
Otop1 A G 5: 38,457,533 (GRCm39) I431V probably benign Het
Otp T G 13: 95,019,692 (GRCm39) L181R probably damaging Het
Pde4a A G 9: 21,117,513 (GRCm39) T592A probably damaging Het
Pi4ka A G 16: 17,111,739 (GRCm39) Y1579H probably damaging Het
Rb1cc1 T C 1: 6,319,224 (GRCm39) V864A probably benign Het
Reln A T 5: 22,183,999 (GRCm39) F1667I probably damaging Het
Serpinb10 T A 1: 107,463,852 (GRCm39) F45I probably damaging Het
Setdb1 A T 3: 95,248,649 (GRCm39) N422K probably damaging Het
Slc17a7 A G 7: 44,819,334 (GRCm39) I137V possibly damaging Het
Tet1 T A 10: 62,649,505 (GRCm39) E67D probably damaging Het
Tpcn1 C A 5: 120,691,817 (GRCm39) probably null Het
Trav9-4 T C 14: 53,913,877 (GRCm39) Y44H possibly damaging Het
Trmt1l A G 1: 151,309,634 (GRCm39) N106D possibly damaging Het
Ttll12 A T 15: 83,466,297 (GRCm39) L388Q probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubfd1 T G 7: 121,666,656 (GRCm39) S51A probably benign Het
Uckl1 T C 2: 181,216,256 (GRCm39) D148G probably damaging Het
Usp34 T C 11: 23,407,803 (GRCm39) L2571S probably damaging Het
Wdr75 T C 1: 45,861,714 (GRCm39) V718A probably benign Het
Zfp266 A G 9: 20,411,446 (GRCm39) S244P probably damaging Het
Zfp979 G A 4: 147,702,876 (GRCm39) Q25* probably null Het
Other mutations in Mrpl16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Mrpl16 APN 19 11,751,777 (GRCm39) missense probably benign 0.02
R1670:Mrpl16 UTSW 19 11,751,959 (GRCm39) nonsense probably null
R2993:Mrpl16 UTSW 19 11,751,895 (GRCm39) missense possibly damaging 0.94
R6285:Mrpl16 UTSW 19 11,750,332 (GRCm39) missense probably damaging 1.00
R8973:Mrpl16 UTSW 19 11,750,307 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTACAAATAGGGGCTGAACATACAG -3'
(R):5'- AACTCACGTTTCCTTGGGAAC -3'

Sequencing Primer
(F):5'- CCAGAGGCAAATGGTAAC -3'
(R):5'- GGAACCCAGTAGCCTAGTTCTATATC -3'
Posted On 2015-04-29