Incidental Mutation 'R7210:Mrpl35'
ID 560995
Institutional Source Beutler Lab
Gene Symbol Mrpl35
Ensembl Gene ENSMUSG00000052962
Gene Name mitochondrial ribosomal protein L35
Synonyms 1110066C01Rik
MMRRC Submission 045239-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R7210 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 71789981-71800768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71794722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 82 (L82S)
Ref Sequence ENSEMBL: ENSMUSP00000066493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065103] [ENSMUST00000205435]
AlphaFold Q9CQL6
Predicted Effect possibly damaging
Transcript: ENSMUST00000065103
AA Change: L82S

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000066493
Gene: ENSMUSG00000052962
AA Change: L82S

DomainStartEndE-ValueType
Pfam:Ribosomal_L35p 102 162 1.6e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205435
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (60/60)
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. Sequence analysis identified three transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p, 10q, and Xp. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 G A 11: 94,264,767 (GRCm39) P194S probably benign Het
Ackr2 C T 9: 121,737,943 (GRCm39) A106V possibly damaging Het
Alg3 G A 16: 20,424,644 (GRCm39) P112L unknown Het
Areg T A 5: 91,288,764 (GRCm39) Y23* probably null Het
Aspn A G 13: 49,719,967 (GRCm39) T328A probably benign Het
B020011L13Rik A T 1: 117,729,241 (GRCm39) E249D possibly damaging Het
Bptf G A 11: 106,945,290 (GRCm39) Q2650* probably null Het
Btbd3 A T 2: 138,125,664 (GRCm39) R283W probably damaging Het
Cep131 T C 11: 119,955,615 (GRCm39) H1035R probably damaging Het
Cfap57 A T 4: 118,433,900 (GRCm39) Y959* probably null Het
Cnot1 T C 8: 96,515,286 (GRCm39) Y25C probably damaging Het
Crebbp G A 16: 3,902,121 (GRCm39) H2373Y possibly damaging Het
Ctnna3 T C 10: 64,086,547 (GRCm39) L373P probably damaging Het
Cyp8b1 T A 9: 121,744,246 (GRCm39) D362V probably damaging Het
D630003M21Rik T A 2: 158,057,932 (GRCm39) probably null Het
Dpp6 T C 5: 27,803,801 (GRCm39) I249T probably damaging Het
Fam149b T G 14: 20,428,540 (GRCm39) I475M probably damaging Het
Fat1 A G 8: 45,476,540 (GRCm39) Y1862C probably damaging Het
Fcrl5 A T 3: 87,353,719 (GRCm39) N355Y possibly damaging Het
Fgd6 C T 10: 93,969,954 (GRCm39) T1201I probably damaging Het
Fndc8 A T 11: 82,788,692 (GRCm39) D174V probably damaging Het
Gatb A G 3: 85,481,527 (GRCm39) H26R probably benign Het
Gm37240 T A 3: 84,405,114 (GRCm39) T230S probably benign Het
Gria4 T C 9: 4,464,135 (GRCm39) Q609R probably damaging Het
Gse1 C A 8: 120,957,441 (GRCm39) T644K unknown Het
Ifit1bl1 T G 19: 34,571,564 (GRCm39) I298L probably benign Het
Il31ra T C 13: 112,686,034 (GRCm39) D85G possibly damaging Het
Katnip T C 7: 125,471,411 (GRCm39) V1504A probably damaging Het
Lyst T C 13: 13,831,568 (GRCm39) L1664P probably damaging Het
Myo7b G A 18: 32,140,155 (GRCm39) R212C probably damaging Het
Myom2 T C 8: 15,154,114 (GRCm39) V684A probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nop58 G T 1: 59,749,539 (GRCm39) probably null Het
Nudt13 T A 14: 20,359,852 (GRCm39) I193N possibly damaging Het
Nyap1 C A 5: 137,736,244 (GRCm39) R81L probably damaging Het
Or1e28-ps1 T C 11: 73,615,699 (GRCm39) I50M possibly damaging Het
Oxct2b A C 4: 123,010,069 (GRCm39) probably benign Het
Pcf11 C T 7: 92,312,684 (GRCm39) A230T probably benign Het
Phactr4 A T 4: 132,085,582 (GRCm39) *695R probably null Het
Pkd1 T C 17: 24,794,840 (GRCm39) S2176P probably damaging Het
Plch2 C A 4: 155,093,543 (GRCm39) R133L probably damaging Het
Ptprq G T 10: 107,521,032 (GRCm39) N713K probably damaging Het
Ptrh2 A T 11: 86,580,793 (GRCm39) T137S probably benign Het
R3hdm1 A G 1: 128,138,945 (GRCm39) Y718C possibly damaging Het
Rftn1 T A 17: 50,301,335 (GRCm39) R505* probably null Het
Rps15a A G 7: 117,708,334 (GRCm39) F128L probably benign Het
Slc25a25 A T 2: 32,310,408 (GRCm39) M177K possibly damaging Het
Smgc C A 15: 91,744,492 (GRCm39) P631Q probably damaging Het
Sox2 T C 3: 34,705,306 (GRCm39) S248P probably damaging Het
Sycp1 T C 3: 102,760,808 (GRCm39) K702E probably damaging Het
Tes G T 6: 17,104,761 (GRCm39) C414F probably damaging Het
Tet1 A T 10: 62,650,280 (GRCm39) C14S probably null Het
Tle3 C T 9: 61,319,587 (GRCm39) P452S probably damaging Het
Tmc6 A C 11: 117,666,670 (GRCm39) L131R possibly damaging Het
Tnip3 C T 6: 65,570,495 (GRCm39) R30* probably null Het
Tnrc6b G T 15: 80,813,486 (GRCm39) G1748W probably damaging Het
Ugt2b38 T G 5: 87,558,284 (GRCm39) D459A probably damaging Het
Zdhhc2 A T 8: 40,920,480 (GRCm39) R246S probably damaging Het
Zscan22 T A 7: 12,640,748 (GRCm39) C331S probably damaging Het
Other mutations in Mrpl35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02811:Mrpl35 APN 6 71,795,804 (GRCm39) missense probably benign 0.02
IGL03117:Mrpl35 APN 6 71,793,263 (GRCm39) nonsense probably null
R2200:Mrpl35 UTSW 6 71,794,723 (GRCm39) missense probably benign 0.03
R5620:Mrpl35 UTSW 6 71,794,720 (GRCm39) missense probably benign
R6228:Mrpl35 UTSW 6 71,800,661 (GRCm39) intron probably benign
R8421:Mrpl35 UTSW 6 71,793,151 (GRCm39) missense probably damaging 1.00
R8550:Mrpl35 UTSW 6 71,793,259 (GRCm39) missense probably damaging 1.00
R8888:Mrpl35 UTSW 6 71,793,271 (GRCm39) missense possibly damaging 0.90
R8895:Mrpl35 UTSW 6 71,793,271 (GRCm39) missense possibly damaging 0.90
R9665:Mrpl35 UTSW 6 71,795,704 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTGCACAAGGACACAGCAG -3'
(R):5'- TGACCCTAAAGTCTTGTATGTGC -3'

Sequencing Primer
(F):5'- TACCGTAAGATGAGTGCACACCATG -3'
(R):5'- CCCTAAAGTCTTGTATGTGCTAAAC -3'
Posted On 2019-06-26