Incidental Mutation 'R5948:Mrpl39'
ID 472298
Institutional Source Beutler Lab
Gene Symbol Mrpl39
Ensembl Gene ENSMUSG00000022889
Gene Name mitochondrial ribosomal protein L39
Synonyms MRP-L5, Rpml5
MMRRC Submission 043244-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.944) question?
Stock # R5948 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 84515068-84532261 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84522041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 244 (N244D)
Ref Sequence ENSEMBL: ENSMUSP00000112283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000116584]
AlphaFold Q9JKF7
Predicted Effect probably benign
Transcript: ENSMUST00000116584
AA Change: N244D

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112283
Gene: ENSMUSG00000022889
AA Change: N244D

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad1 T C 3: 37,137,504 (GRCm39) probably null Het
Adam8 G T 7: 139,567,797 (GRCm39) D341E probably benign Het
Ankrd6 T C 4: 32,817,075 (GRCm39) T351A possibly damaging Het
Ccdc150 T C 1: 54,316,873 (GRCm39) S251P possibly damaging Het
Cfh T C 1: 140,036,546 (GRCm39) N629S probably damaging Het
Col4a2 T C 8: 11,470,600 (GRCm39) S453P probably benign Het
Csf2 T C 11: 54,138,514 (GRCm39) D109G probably benign Het
Dapk1 C A 13: 60,877,209 (GRCm39) H483N probably damaging Het
Dnah7c T G 1: 46,711,657 (GRCm39) I2628R probably benign Het
Dsp T C 13: 38,379,377 (GRCm39) Y2041H possibly damaging Het
Dusp10 A G 1: 183,801,073 (GRCm39) N280S probably benign Het
Efhc1 T A 1: 21,043,052 (GRCm39) Y324N probably damaging Het
Epsti1 T C 14: 78,177,330 (GRCm39) L170P probably damaging Het
Fbn2 C T 18: 58,170,121 (GRCm39) G2217R probably damaging Het
Fryl A G 5: 73,254,715 (GRCm39) probably null Het
Nptxr C T 15: 79,674,042 (GRCm39) A445T probably benign Het
Or1j15 A G 2: 36,459,363 (GRCm39) Y251C probably damaging Het
Otud3 A G 4: 138,624,925 (GRCm39) Y259H probably benign Het
Parvb G A 15: 84,187,662 (GRCm39) V257M probably damaging Het
Piezo1 T C 8: 123,210,086 (GRCm39) E2258G probably benign Het
Prpf8 A G 11: 75,400,015 (GRCm39) E2303G possibly damaging Het
Psmc6 A G 14: 45,572,114 (GRCm39) D88G probably benign Het
Rbbp6 C T 7: 122,596,851 (GRCm39) T701I probably damaging Het
Rtl1 T A 12: 109,557,033 (GRCm39) D1602V possibly damaging Het
Rubcnl T C 14: 75,285,056 (GRCm39) L525P probably damaging Het
Sbf2 T C 7: 110,088,492 (GRCm39) D73G probably damaging Het
Sh3tc2 T A 18: 62,146,176 (GRCm39) M1185K probably damaging Het
Shank2 A G 7: 143,960,960 (GRCm39) K469E probably damaging Het
Ttc41 T C 10: 86,549,088 (GRCm39) L94P probably damaging Het
Ttf1 G A 2: 28,963,932 (GRCm39) A603T possibly damaging Het
Usp9y A T Y: 1,324,996 (GRCm39) H1686Q possibly damaging Het
Vps37a A G 8: 40,993,752 (GRCm39) E249G possibly damaging Het
Zfp273 A G 13: 67,973,918 (GRCm39) I316V probably benign Het
Zfp600 T A 4: 146,131,645 (GRCm39) N104K probably damaging 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
R5375:Mrpl39 UTSW 16 84,520,790 (GRCm39) missense probably damaging 1.00
R5730:Mrpl39 UTSW 16 84,529,322 (GRCm39) missense probably damaging 1.00
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'- TTGCCCAATCTGAAAATCAACTCTC -3'
(R):5'- TATCAGGCTGTGGTCCTGTC -3'

Sequencing Primer
(F):5'- CCAGTTTACAGAGACGTCGTC -3'
(R):5'- CCAGTGGACAGTGCTGTGAG -3'
Posted On 2017-03-31