Incidental Mutation 'R5375:Mrpl39'
ID 429044
Institutional Source Beutler Lab
Gene Symbol Mrpl39
Ensembl Gene ENSMUSG00000022889
Gene Name mitochondrial ribosomal protein L39
Synonyms MRP-L5, Rpml5
MMRRC Submission 042951-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.944) question?
Stock # R5375 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 84515068-84532261 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84520790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 283 (L283P)
Ref Sequence ENSEMBL: ENSMUSP00000112283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000116584]
AlphaFold Q9JKF7
Predicted Effect probably damaging
Transcript: ENSMUST00000116584
AA Change: L283P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112283
Gene: ENSMUSG00000022889
AA Change: L283P

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
SCOP:d1a04a1 27 69 8e-3 SMART
PDB:4CE4|C 66 335 N/A PDB
SCOP:d1qf6a2 73 126 1e-2 SMART
SCOP:d1qf6a3 128 319 4e-28 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 T A 12: 4,260,870 (GRCm39) N995K probably damaging Het
Aldh4a1 T C 4: 139,361,233 (GRCm39) M60T probably benign Het
Alpk2 A T 18: 65,505,809 (GRCm39) H70Q probably damaging Het
Babam2 T A 5: 31,859,207 (GRCm39) I5N possibly damaging Het
Blm T C 7: 80,162,977 (GRCm39) T125A probably benign Het
Bloc1s1 T C 10: 128,759,826 (GRCm39) probably benign Het
Calcr G T 6: 3,714,651 (GRCm39) Q160K probably benign Het
Ccdc43 C T 11: 102,581,058 (GRCm39) A131T probably damaging Het
Cdh15 A T 8: 123,591,839 (GRCm39) N575Y probably damaging Het
Chd8 T C 14: 52,441,611 (GRCm39) D827G probably damaging Het
Col3a1 A G 1: 45,387,059 (GRCm39) probably null Het
Creb5 A T 6: 53,658,002 (GRCm39) M255L possibly damaging Het
Cst8 A G 2: 148,646,503 (GRCm39) I78V probably benign Het
Cyld A G 8: 89,459,664 (GRCm39) E440G possibly damaging Het
Cyp2b9 A C 7: 25,887,167 (GRCm39) D192A probably damaging Het
Dclre1b C T 3: 103,711,290 (GRCm39) R207H probably damaging Het
Dnah6 A T 6: 73,100,838 (GRCm39) F1936L probably damaging Het
Dpp9 A C 17: 56,496,424 (GRCm39) Y761* probably null Het
Drc1 A T 5: 30,513,745 (GRCm39) M434L probably benign Het
Dtx3l A T 16: 35,753,397 (GRCm39) I403N probably damaging Het
Ecpas T A 4: 58,809,401 (GRCm39) K1658* probably null Het
Efcab9 A G 11: 32,477,484 (GRCm39) Y13H probably damaging Het
Efhb T A 17: 53,708,654 (GRCm39) N672I possibly damaging Het
Eif5b T C 1: 38,084,835 (GRCm39) V894A possibly damaging Het
Elovl3 T C 19: 46,123,135 (GRCm39) F237S probably benign Het
Emc1 T A 4: 139,093,802 (GRCm39) D637E probably damaging Het
Erbb2 C A 11: 98,324,238 (GRCm39) P742Q probably damaging Het
Fam234b C A 6: 135,210,355 (GRCm39) L584M probably damaging Het
Fancd2 A T 6: 113,545,673 (GRCm39) D14V possibly damaging Het
Fat2 T C 11: 55,153,646 (GRCm39) H3522R probably benign Het
Fgfr2 T C 7: 129,842,945 (GRCm39) N147D possibly damaging Het
Gm26657 A G 4: 56,741,180 (GRCm39) probably benign Het
Hcrtr1 C T 4: 130,029,518 (GRCm39) V188M probably benign Het
Herc1 T C 9: 66,375,169 (GRCm39) V3331A probably damaging Het
Hmcn2 T C 2: 31,320,453 (GRCm39) V3978A possibly damaging Het
Invs G A 4: 48,385,262 (GRCm39) R202K probably benign Het
Lgr5 C T 10: 115,314,469 (GRCm39) S156N probably benign Het
Mras T G 9: 99,276,669 (GRCm39) D67A probably damaging Het
Ncoa6 A T 2: 155,275,915 (GRCm39) I110N probably benign Het
Neb T C 2: 52,102,596 (GRCm39) D544G possibly damaging Het
Nlrc3 A G 16: 3,782,617 (GRCm39) I264T possibly damaging Het
Or10a2 T A 7: 106,673,080 (GRCm39) M15K probably benign Het
Or1j13 A G 2: 36,369,309 (GRCm39) Y278H probably damaging Het
Or5k16 T C 16: 58,736,248 (GRCm39) Y252C possibly damaging Het
Or7g18 A G 9: 18,787,442 (GRCm39) K273R probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Phf11d T C 14: 59,590,120 (GRCm39) D234G probably null Het
Polq A T 16: 36,903,146 (GRCm39) D1980V probably damaging Het
Rasa1 A T 13: 85,437,022 (GRCm39) probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sec23a A G 12: 59,053,791 (GRCm39) V69A probably benign Het
Sipa1 A G 19: 5,709,640 (GRCm39) I260T probably damaging Het
Smarcc1 T A 9: 110,020,017 (GRCm39) L628H probably damaging Het
Snx31 A G 15: 36,525,730 (GRCm39) V323A probably damaging Het
Sun2 A G 15: 79,611,723 (GRCm39) S565P probably damaging Het
Tmem74 C T 15: 43,730,564 (GRCm39) D160N possibly damaging Het
Tnik T C 3: 28,648,241 (GRCm39) M431T probably benign Het
Trp53inp1 A G 4: 11,165,305 (GRCm39) T110A probably benign Het
Ttll9 G T 2: 152,826,144 (GRCm39) C118F probably benign Het
Vps4b A G 1: 106,719,422 (GRCm39) L42P probably benign Het
Xirp2 A T 2: 67,342,250 (GRCm39) N1497I probably damaging Het
Xpo4 A G 14: 57,875,764 (GRCm39) V123A probably damaging Het
Zfhx4 A T 3: 5,477,485 (GRCm39) T3367S probably damaging Het
Zfp236 T C 18: 82,615,813 (GRCm39) E1782G possibly damaging Het
Zfp35 T A 18: 24,135,973 (GRCm39) C106S possibly damaging Het
Zfpm1 A G 8: 123,062,812 (GRCm39) T624A probably benign Het
Zmiz2 C T 11: 6,347,519 (GRCm39) Q276* probably null Het
Other mutations in Mrpl39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00974:Mrpl39 APN 16 84,520,740 (GRCm39) missense probably damaging 1.00
R0671:Mrpl39 UTSW 16 84,531,282 (GRCm39) splice site probably benign
R1682:Mrpl39 UTSW 16 84,527,347 (GRCm39) missense probably damaging 0.99
R2357:Mrpl39 UTSW 16 84,524,452 (GRCm39) missense probably benign 0.00
R2424:Mrpl39 UTSW 16 84,527,748 (GRCm39) missense probably benign
R4418:Mrpl39 UTSW 16 84,522,012 (GRCm39) critical splice donor site probably null
R4976:Mrpl39 UTSW 16 84,531,293 (GRCm39) critical splice donor site probably null
R5730:Mrpl39 UTSW 16 84,529,322 (GRCm39) missense probably damaging 1.00
R5948:Mrpl39 UTSW 16 84,522,041 (GRCm39) missense probably benign 0.25
R6407:Mrpl39 UTSW 16 84,529,273 (GRCm39) missense probably benign 0.01
R6910:Mrpl39 UTSW 16 84,532,080 (GRCm39) missense unknown
R8519:Mrpl39 UTSW 16 84,527,736 (GRCm39) missense probably benign 0.13
R9050:Mrpl39 UTSW 16 84,531,844 (GRCm39) intron probably benign
R9309:Mrpl39 UTSW 16 84,532,071 (GRCm39) missense unknown
R9445:Mrpl39 UTSW 16 84,531,346 (GRCm39) missense probably benign 0.00
R9469:Mrpl39 UTSW 16 84,517,170 (GRCm39) missense probably damaging 1.00
R9599:Mrpl39 UTSW 16 84,527,359 (GRCm39) missense probably damaging 1.00
Z1176:Mrpl39 UTSW 16 84,520,860 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGCAAATCATGAAGAGGCTTG -3'
(R):5'- GCTTATGACAGATGGATTGAGTCAG -3'

Sequencing Primer
(F):5'- CATGAAGAGGCTTGCAAAACTATTAG -3'
(R):5'- TTTGAATTGAGATACAGCCATAAGG -3'
Posted On 2016-09-06